{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"O95104","secondaryAccessions":["C9JLZ0","Q0P5W8","Q6P1M5","Q8N3I8","Q9UFM1","Q9ULP8"],"uniProtkbId":"SCAF4_HUMAN","entryAudit":{"firstPublicDate":"2000-05-30","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2005-02-15","entryVersion":202,"sequenceVersion":3},"annotationScore":5.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"31104839"}],"value":"SR-related and CTD-associated factor 4"}},"alternativeNames":[{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"CTD-binding SR-like protein RA4"}},{"fullName":{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Splicing factor, arginine/serine-rich 15"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"31104839"},{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:19304"}],"value":"SCAF4"},"synonyms":[{"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10574461"}],"value":"KIAA1172"},{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:19304"}],"value":"SFRS15"}]}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31104839"}],"value":"Anti-terminator protein required to prevent early mRNA termination during transcription (PubMed:31104839). Together with SCAF8, acts by suppressing the use of early, alternative poly(A) sites, thereby preventing the accumulation of non-functional truncated proteins (PubMed:31104839). Mechanistically, associates with the phosphorylated C-terminal heptapeptide repeat domain (CTD) of the largest RNA polymerase II subunit (POLR2A), and subsequently binds nascent RNA upstream of early polyadenylation sites to prevent premature mRNA transcript cleavage and polyadenylation (PubMed:31104839). Independently of SCAF8, also acts as a suppressor of transcriptional readthrough (PubMed:31104839)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31104839"}],"value":"Interacts with POLR2A; via C-terminal heptapeptide repeat domain (CTD) phosphorylated at 'Ser-2' and 'Ser-5'"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"31104839"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["O95104-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["O95104-2"],"sequenceIds":["VSP_005879"],"isoformSequenceStatus":"Described"},{"name":{"value":"3"},"isoformIds":["O95104-3"],"sequenceIds":["VSP_047351"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Fliedner-Zweier syndrome","diseaseAccession":"DI-06763","acronym":"FZS","description":"An autosomal dominant neurodevelopmental disorder characterized by variable features including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies.","diseaseCrossReference":{"database":"MIM","id":"620511"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32730804"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36333968"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}]},"note":{"texts":[{"value":"The disease is caused by variants affecting the gene represented in this entry"}]}},{"commentType":"SEQUENCE CAUTION","sequenceCautionType":"Erroneous initiation","sequence":"AAD09327.1","evidences":[{"evidenceCode":"ECO:0000305"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"SR-related and CTD-associated factor 4","featureId":"PRO_0000081943"},{"type":"Domain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"CID","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00724"}]},{"type":"Domain","location":{"start":{"value":508,"modifier":"EXACT"},"end":{"value":582,"modifier":"EXACT"}},"description":"RRM","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00176"}]},{"type":"Region","location":{"start":{"value":145,"modifier":"EXACT"},"end":{"value":179,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":254,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":269,"modifier":"EXACT"},"end":{"value":331,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":424,"modifier":"EXACT"},"end":{"value":502,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":629,"modifier":"EXACT"},"end":{"value":661,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":879,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":283,"modifier":"EXACT"},"end":{"value":292,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":299,"modifier":"EXACT"},"end":{"value":310,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":424,"modifier":"EXACT"},"end":{"value":433,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":434,"modifier":"EXACT"},"end":{"value":475,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":477,"modifier":"EXACT"},"end":{"value":492,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":879,"modifier":"EXACT"},"end":{"value":913,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":941,"modifier":"EXACT"},"end":{"value":965,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":966,"modifier":"EXACT"},"end":{"value":977,"modifier":"EXACT"}},"description":"Pro residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":1009,"modifier":"EXACT"},"end":{"value":1085,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":49,"modifier":"EXACT"},"end":{"value":49,"modifier":"EXACT"}},"description":"N6-acetyllysine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19608861"}]},{"type":"Modified residue","location":{"start":{"value":154,"modifier":"EXACT"},"end":{"value":154,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":656,"modifier":"EXACT"},"end":{"value":656,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17081983"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Modified residue","location":{"start":{"value":1004,"modifier":"EXACT"},"end":{"value":1004,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Alternative sequence","location":{"start":{"value":38,"modifier":"EXACT"},"end":{"value":52,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_047351","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":766,"modifier":"EXACT"},"end":{"value":788,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"10574461"},{"evidenceCode":"ECO:0000303","source":"PubMed","id":"17974005"}],"featureId":"VSP_005879","alternativeSequence":{"originalSequence":"STIAGINEDTTKDLSIGNPIPTV","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":11,"modifier":"EXACT"},"end":{"value":11,"modifier":"EXACT"}},"description":"in FZS; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091299","alternativeSequence":{"originalSequence":"L","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":13,"modifier":"EXACT"},"end":{"value":13,"modifier":"EXACT"}},"description":"in FZS; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091300","alternativeSequence":{"originalSequence":"S","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":118,"modifier":"EXACT"},"end":{"value":118,"modifier":"EXACT"}},"description":"in FZS; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091301","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["P"]}},{"type":"Natural variant","location":{"start":{"value":191,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091302","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":233,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091303","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":236,"modifier":"EXACT"},"end":{"value":236,"modifier":"EXACT"}},"description":"in FZS; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091304","alternativeSequence":{"originalSequence":"T","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":261,"modifier":"EXACT"},"end":{"value":261,"modifier":"EXACT"}},"description":"in FZS; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32730804"}],"featureId":"VAR_088993","alternativeSequence":{"originalSequence":"L","alternativeSequences":["F"]}},{"type":"Natural variant","location":{"start":{"value":349,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091305","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":426,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091306","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":434,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32730804"}],"featureId":"VAR_088994","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":441,"modifier":"EXACT"},"end":{"value":441,"modifier":"EXACT"}},"description":"in FZS; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091307","alternativeSequence":{"originalSequence":"R","alternativeSequences":["T"]}},{"type":"Natural variant","location":{"start":{"value":447,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091308","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":455,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091309","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":460,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091310","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":475,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32730804"}],"featureId":"VAR_088995","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":484,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091311","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":491,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091312","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":541,"modifier":"EXACT"},"end":{"value":541,"modifier":"EXACT"}},"description":"in FZS; uncertain significance","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091313","alternativeSequence":{"originalSequence":"P","alternativeSequences":["A"]}},{"type":"Natural variant","location":{"start":{"value":604,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32730804"}],"featureId":"VAR_088996","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":630,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"32730804"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_088997","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":681,"modifier":"EXACT"},"end":{"value":1147,"modifier":"EXACT"}},"description":"in FZS; likely pathogenic","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"39668183"}],"featureId":"VAR_091314","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":846,"modifier":"EXACT"},"end":{"value":846,"modifier":"EXACT"}},"description":"in dbSNP:rs12152067","featureCrossReferences":[{"database":"dbSNP","id":"rs12152067"}],"featureId":"VAR_052234","alternativeSequence":{"originalSequence":"S","alternativeSequences":["Y"]}},{"type":"Sequence conflict","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":1,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"M","alternativeSequences":["W"]}},{"type":"Sequence conflict","location":{"start":{"value":260,"modifier":"EXACT"},"end":{"value":264,"modifier":"EXACT"}},"description":"in Ref. 3; CAB55911","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{}},{"type":"Sequence conflict","location":{"start":{"value":283,"modifier":"EXACT"},"end":{"value":283,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["I"]}},{"type":"Sequence conflict","location":{"start":{"value":286,"modifier":"EXACT"},"end":{"value":286,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":299,"modifier":"EXACT"},"end":{"value":299,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"T","alternativeSequences":["A"]}},{"type":"Sequence conflict","location":{"start":{"value":302,"modifier":"EXACT"},"end":{"value":302,"modifier":"EXACT"}},"description":"in Ref. 6; BAA86486","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"V","alternativeSequences":["L"]}},{"type":"Sequence conflict","location":{"start":{"value":552,"modifier":"EXACT"},"end":{"value":552,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"H","alternativeSequences":["Y"]}},{"type":"Sequence conflict","location":{"start":{"value":560,"modifier":"EXACT"},"end":{"value":560,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["V"]}},{"type":"Sequence conflict","location":{"start":{"value":571,"modifier":"EXACT"},"end":{"value":571,"modifier":"EXACT"}},"description":"in Ref. 1","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"N","alternativeSequences":["T"]}},{"type":"Sequence conflict","location":{"start":{"value":598,"modifier":"EXACT"},"end":{"value":600,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"GVT","alternativeSequences":["CVI"]}},{"type":"Sequence conflict","location":{"start":{"value":604,"modifier":"EXACT"},"end":{"value":606,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"WDK","alternativeSequences":["CDN"]}},{"type":"Sequence conflict","location":{"start":{"value":612,"modifier":"EXACT"},"end":{"value":612,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"L","alternativeSequences":["M"]}},{"type":"Sequence conflict","location":{"start":{"value":616,"modifier":"EXACT"},"end":{"value":616,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"C","alternativeSequences":["Y"]}},{"type":"Sequence conflict","location":{"start":{"value":624,"modifier":"EXACT"},"end":{"value":624,"modifier":"EXACT"}},"description":"in Ref. 3; AK308406","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"D","alternativeSequences":["N"]}},{"type":"Sequence conflict","location":{"start":{"value":808,"modifier":"EXACT"},"end":{"value":826,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"AVPPAAPTNLPTPPVTQPV","alternativeSequences":["TCCTHESAHPSCNPACLPC"]}},{"type":"Sequence conflict","location":{"start":{"value":844,"modifier":"EXACT"},"end":{"value":844,"modifier":"EXACT"}},"description":"in Ref. 1; AAD09327","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"A","alternativeSequences":["E"]}},{"type":"Sequence conflict","location":{"start":{"value":1139,"modifier":"EXACT"},"end":{"value":1139,"modifier":"EXACT"}},"description":"in Ref. 1","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"S","alternativeSequences":["G"]}},{"type":"Helix","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":12,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":13,"modifier":"EXACT"},"end":{"value":16,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":23,"modifier":"EXACT"},"end":{"value":35,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":37,"modifier":"EXACT"},"end":{"value":39,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":40,"modifier":"EXACT"},"end":{"value":53,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":56,"modifier":"EXACT"},"end":{"value":58,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":59,"modifier":"EXACT"},"end":{"value":77,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Turn","location":{"start":{"value":79,"modifier":"EXACT"},"end":{"value":81,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":84,"modifier":"EXACT"},"end":{"value":89,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":92,"modifier":"EXACT"},"end":{"value":99,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":104,"modifier":"EXACT"},"end":{"value":106,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":107,"modifier":"EXACT"},"end":{"value":120,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]},{"type":"Helix","location":{"start":{"value":125,"modifier":"EXACT"},"end":{"value":134,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"6XKB"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0007","category":"PTM","name":"Acetylation"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-0887","category":"Disease","name":"Epilepsy"},{"id":"KW-0991","category":"Disease","name":"Intellectual disability"},{"id":"KW-0539","category":"Cellular component","name":"Nucleus"},{"id":"KW-0597","category":"PTM","name":"Phosphoprotein"},{"id":"KW-1267","category":"Technical term","name":"Proteomics identification"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"},{"id":"KW-0694","category":"Molecular function","name":"RNA-binding"},{"id":"KW-0804","category":"Biological process","name":"Transcription"},{"id":"KW-0805","category":"Biological process","name":"Transcription regulation"}],"references":[{"referenceNumber":1,"citation":{"id":"CI-2QFH2RBJI9QD","citationType":"submission","authors":["Tassone F.","Villard L.","Gardiner K."],"title":"Sequence, genomic organization and map localization of the human SR protein gene rA4.","publicationDate":"AUG-1997","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)"]},{"referenceNumber":2,"citation":{"id":"14702039","citationType":"journal article","authors":["Ota T.","Suzuki Y.","Nishikawa T.","Otsuki T.","Sugiyama T.","Irie R.","Wakamatsu A.","Hayashi K.","Sato H.","Nagai K.","Kimura K.","Makita H.","Sekine M.","Obayashi M.","Nishi T.","Shibahara T.","Tanaka T.","Ishii S.","Yamamoto J.","Saito K.","Kawai Y.","Isono Y.","Nakamura Y.","Nagahari K.","Murakami K.","Yasuda T.","Iwayanagi T.","Wagatsuma M.","Shiratori A.","Sudo H.","Hosoiri T.","Kaku Y.","Kodaira H.","Kondo H.","Sugawara M.","Takahashi M.","Kanda K.","Yokoi T.","Furuya T.","Kikkawa E.","Omura Y.","Abe K.","Kamihara K.","Katsuta N.","Sato K.","Tanikawa M.","Yamazaki M.","Ninomiya K.","Ishibashi T.","Yamashita H.","Murakawa K.","Fujimori K.","Tanai H.","Kimata M.","Watanabe M.","Hiraoka S.","Chiba Y.","Ishida S.","Ono Y.","Takiguchi S.","Watanabe S.","Yosida M.","Hotuta T.","Kusano J.","Kanehori K.","Takahashi-Fujii A.","Hara H.","Tanase T.-O.","Nomura Y.","Togiya S.","Komai F.","Hara R.","Takeuchi K.","Arita M.","Imose N.","Musashino K.","Yuuki H.","Oshima A.","Sasaki N.","Aotsuka S.","Yoshikawa Y.","Matsunawa H.","Ichihara T.","Shiohata N.","Sano S.","Moriya S.","Momiyama H.","Satoh N.","Takami S.","Terashima Y.","Suzuki O.","Nakagawa S.","Senoh A.","Mizoguchi H.","Goto Y.","Shimizu F.","Wakebe H.","Hishigaki H.","Watanabe T.","Sugiyama A.","Takemoto M.","Kawakami B.","Yamazaki M.","Watanabe K.","Kumagai A.","Itakura S.","Fukuzumi Y.","Fujimori Y.","Komiyama M.","Tashiro H.","Tanigami A.","Fujiwara T.","Ono T.","Yamada K.","Fujii Y.","Ozaki K.","Hirao M.","Ohmori Y.","Kawabata A.","Hikiji T.","Kobatake N.","Inagaki H.","Ikema Y.","Okamoto S.","Okitani R.","Kawakami T.","Noguchi S.","Itoh T.","Shigeta K.","Senba T.","Matsumura K.","Nakajima Y.","Mizuno T.","Morinaga M.","Sasaki M.","Togashi T.","Oyama M.","Hata H.","Watanabe M.","Komatsu T.","Mizushima-Sugano J.","Satoh T.","Shirai Y.","Takahashi Y.","Nakagawa K.","Okumura K.","Nagase T.","Nomura N.","Kikuchi H.","Masuho Y.","Yamashita R.","Nakai K.","Yada T.","Nakamura Y.","Ohara O.","Isogai T.","Sugano S."],"citationCrossReferences":[{"database":"PubMed","id":"14702039"},{"database":"DOI","id":"10.1038/ng1285"}],"title":"Complete sequencing and characterization of 21,243 full-length human cDNAs.","publicationDate":"2004","journal":"Nat. Genet.","firstPage":"40","lastPage":"45","volume":"36"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3)"],"referenceComments":[{"value":"Trachea","type":"TISSUE"}]},{"referenceNumber":3,"citation":{"id":"17974005","citationType":"journal article","authors":["Bechtel S.","Rosenfelder H.","Duda A.","Schmidt C.P.","Ernst U.","Wellenreuther R.","Mehrle A.","Schuster C.","Bahr A.","Bloecker H.","Heubner D.","Hoerlein A.","Michel G.","Wedler H.","Koehrer K.","Ottenwaelder B.","Poustka A.","Wiemann S.","Schupp I."],"citationCrossReferences":[{"database":"PubMed","id":"17974005"},{"database":"DOI","id":"10.1186/1471-2164-8-399"}],"title":"The full-ORF clone resource of the German cDNA consortium.","publicationDate":"2007","journal":"BMC Genomics","firstPage":"399","lastPage":"399","volume":"8"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2)"],"referenceComments":[{"value":"Melanoma","type":"TISSUE"},{"value":"Testis","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"10830953","citationType":"journal article","authors":["Hattori M.","Fujiyama A.","Taylor T.D.","Watanabe H.","Yada T.","Park H.-S.","Toyoda A.","Ishii K.","Totoki Y.","Choi D.-K.","Groner Y.","Soeda E.","Ohki M.","Takagi T.","Sakaki Y.","Taudien S.","Blechschmidt K.","Polley A.","Menzel U.","Delabar J.","Kumpf K.","Lehmann R.","Patterson D.","Reichwald K.","Rump A.","Schillhabel M.","Schudy A.","Zimmermann W.","Rosenthal A.","Kudoh J.","Shibuya K.","Kawasaki K.","Asakawa S.","Shintani A.","Sasaki T.","Nagamine K.","Mitsuyama S.","Antonarakis S.E.","Minoshima S.","Shimizu N.","Nordsiek G.","Hornischer K.","Brandt P.","Scharfe M.","Schoen O.","Desario A.","Reichelt J.","Kauer G.","Bloecker H.","Ramser J.","Beck A.","Klages S.","Hennig S.","Riesselmann L.","Dagand E.","Wehrmeyer S.","Borzym K.","Gardiner K.","Nizetic D.","Francis F.","Lehrach H.","Reinhardt R.","Yaspo M.-L."],"citationCrossReferences":[{"database":"PubMed","id":"10830953"},{"database":"DOI","id":"10.1038/35012518"}],"title":"The DNA sequence of human chromosome 21.","publicationDate":"2000","journal":"Nature","firstPage":"311","lastPage":"319","volume":"405"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":5,"citation":{"id":"15489334","citationType":"journal article","authoringGroup":["The MGC Project Team"],"citationCrossReferences":[{"database":"PubMed","id":"15489334"},{"database":"DOI","id":"10.1101/gr.2596504"}],"title":"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).","publicationDate":"2004","journal":"Genome Res.","firstPage":"2121","lastPage":"2127","volume":"14"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)"],"referenceComments":[{"value":"Brain","type":"TISSUE"},{"value":"Uterus","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"10574461","citationType":"journal article","authors":["Hirosawa M.","Nagase T.","Ishikawa K.","Kikuno R.","Nomura N.","Ohara O."],"citationCrossReferences":[{"database":"PubMed","id":"10574461"},{"database":"DOI","id":"10.1093/dnares/6.5.329"}],"title":"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain.","publicationDate":"1999","journal":"DNA Res.","firstPage":"329","lastPage":"336","volume":"6"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 197-1147 (ISOFORM 2)"],"referenceComments":[{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"17081983","citationType":"journal article","authors":["Olsen J.V.","Blagoev B.","Gnad F.","Macek B.","Kumar C.","Mortensen P.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"17081983"},{"database":"DOI","id":"10.1016/j.cell.2006.09.026"}],"title":"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.","publicationDate":"2006","journal":"Cell","firstPage":"635","lastPage":"648","volume":"127"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-656","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":8,"citation":{"id":"18669648","citationType":"journal article","authors":["Dephoure N.","Zhou C.","Villen J.","Beausoleil S.A.","Bakalarski C.E.","Elledge S.J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"18669648"},{"database":"DOI","id":"10.1073/pnas.0805139105"}],"title":"A quantitative atlas of mitotic phosphorylation.","publicationDate":"2008","journal":"Proc. Natl. Acad. Sci. U.S.A.","firstPage":"10762","lastPage":"10767","volume":"105"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-154","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":9,"citation":{"id":"19413330","citationType":"journal article","authors":["Gauci S.","Helbig A.O.","Slijper M.","Krijgsveld J.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"19413330"},{"database":"DOI","id":"10.1021/ac9004309"}],"title":"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.","publicationDate":"2009","journal":"Anal. Chem.","firstPage":"4493","lastPage":"4501","volume":"81"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":10,"citation":{"id":"19690332","citationType":"journal article","authors":["Mayya V.","Lundgren D.H.","Hwang S.-I.","Rezaul K.","Wu L.","Eng J.K.","Rodionov V.","Han D.K."],"citationCrossReferences":[{"database":"PubMed","id":"19690332"},{"database":"DOI","id":"10.1126/scisignal.2000007"}],"title":"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.","publicationDate":"2009","journal":"Sci. Signal.","firstPage":"RA46","lastPage":"RA46","volume":"2"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-154","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]},{"referenceNumber":11,"citation":{"id":"19608861","citationType":"journal article","authors":["Choudhary C.","Kumar C.","Gnad F.","Nielsen M.L.","Rehman M.","Walther T.C.","Olsen J.V.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"19608861"},{"database":"DOI","id":"10.1126/science.1175371"}],"title":"Lysine acetylation targets protein complexes and co-regulates major cellular functions.","publicationDate":"2009","journal":"Science","firstPage":"834","lastPage":"840","volume":"325"},"referencePositions":["ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-49","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":12,"citation":{"id":"20068231","citationType":"journal article","authors":["Olsen J.V.","Vermeulen M.","Santamaria A.","Kumar C.","Miller M.L.","Jensen L.J.","Gnad F.","Cox J.","Jensen T.S.","Nigg E.A.","Brunak S.","Mann M."],"citationCrossReferences":[{"database":"PubMed","id":"20068231"},{"database":"DOI","id":"10.1126/scisignal.2000475"}],"title":"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.","publicationDate":"2010","journal":"Sci. Signal.","firstPage":"RA3","lastPage":"RA3","volume":"3"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":13,"citation":{"id":"21269460","citationType":"journal article","authors":["Burkard T.R.","Planyavsky M.","Kaupe I.","Breitwieser F.P.","Buerckstuemmer T.","Bennett K.L.","Superti-Furga G.","Colinge J."],"citationCrossReferences":[{"database":"PubMed","id":"21269460"},{"database":"DOI","id":"10.1186/1752-0509-5-17"}],"title":"Initial characterization of the human central proteome.","publicationDate":"2011","journal":"BMC Syst. Biol.","firstPage":"17","lastPage":"17","volume":"5"},"referencePositions":["IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":14,"citation":{"id":"21406692","citationType":"journal article","authors":["Rigbolt K.T.","Prokhorova T.A.","Akimov V.","Henningsen J.","Johansen P.T.","Kratchmarova I.","Kassem M.","Mann M.","Olsen J.V.","Blagoev B."],"citationCrossReferences":[{"database":"PubMed","id":"21406692"},{"database":"DOI","id":"10.1126/scisignal.2001570"}],"title":"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.","publicationDate":"2011","journal":"Sci. Signal.","firstPage":"RS3","lastPage":"RS3","volume":"4"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-656","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":15,"citation":{"id":"23186163","citationType":"journal article","authors":["Zhou H.","Di Palma S.","Preisinger C.","Peng M.","Polat A.N.","Heck A.J.","Mohammed S."],"citationCrossReferences":[{"database":"PubMed","id":"23186163"},{"database":"DOI","id":"10.1021/pr300630k"}],"title":"Toward a comprehensive characterization of a human cancer cell phosphoproteome.","publicationDate":"2013","journal":"J. Proteome Res.","firstPage":"260","lastPage":"271","volume":"12"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-154 AND SER-1004","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":16,"citation":{"id":"24275569","citationType":"journal article","authors":["Bian Y.","Song C.","Cheng K.","Dong M.","Wang F.","Huang J.","Sun D.","Wang L.","Ye M.","Zou H."],"citationCrossReferences":[{"database":"PubMed","id":"24275569"},{"database":"DOI","id":"10.1016/j.jprot.2013.11.014"}],"title":"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.","publicationDate":"2014","journal":"J. Proteomics","firstPage":"253","lastPage":"262","volume":"96"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-154","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":17,"citation":{"id":"31104839","citationType":"journal article","authors":["Gregersen L.H.","Mitter R.","Ugalde A.P.","Nojima T.","Proudfoot N.J.","Agami R.","Stewart A.","Svejstrup J.Q."],"citationCrossReferences":[{"database":"PubMed","id":"31104839"},{"database":"DOI","id":"10.1016/j.cell.2019.04.038"}],"title":"SCAF4 and SCAF8, mRNA anti-terminator proteins.","publicationDate":"2019","journal":"Cell","firstPage":"0","lastPage":"0","volume":"0"},"referencePositions":["FUNCTION","SUBCELLULAR LOCATION","INTERACTION WITH POLR2A"]},{"referenceNumber":18,"citation":{"id":"32730804","citationType":"journal article","authoringGroup":["UCLA Clinical Genomics Center"],"authors":["Fliedner A.","Kirchner P.","Wiesener A.","van de Beek I.","Waisfisz Q.","van Haelst M.","Scott D.A.","Lalani S.R.","Rosenfeld J.A.","Azamian M.S.","Xia F.","Dutra-Clarke M.","Martinez-Agosto J.A.","Lee H.","Noh G.J.","Lippa N.","Alkelai A.","Aggarwal V.","Agre K.E.","Gavrilova R.","Mirzaa G.M.","Straussberg R.","Cohen R.","Horist B.","Krishnamurthy V.","McWalter K.","Juusola J.","Davis-Keppen L.","Ohden L.","van Slegtenhorst M.","de Man S.A.","Ekici A.B.","Gregor A.","van de Laar I.","Zweier C."],"citationCrossReferences":[{"database":"PubMed","id":"32730804"},{"database":"DOI","id":"10.1016/j.ajhg.2020.06.019"}],"title":"Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.","publicationDate":"2020","journal":"Am. J. Hum. Genet.","firstPage":"544","lastPage":"554","volume":"107"},"referencePositions":["INVOLVEMENT IN FZS","VARIANTS FZS PHE-261; 434-SER--ARG-1147 DEL; 475-ARG--ARG-1147 DEL; 604-TRP--ARG-1147 DEL AND 630-TRP--ARG-1147 DEL"]},{"referenceNumber":19,"citation":{"id":"36333968","citationType":"journal article","authors":["Carvalho L.M.L.","Pinto C.F.","de Oliveira Scliar M.","Otto P.A.","Krepischi A.C.V.","Rosenberg C."],"citationCrossReferences":[{"database":"PubMed","id":"36333968"},{"database":"DOI","id":"10.1002/ajmg.a.63032"}],"title":"SCAF4-related syndromic intellectual disability.","publicationDate":"2023","journal":"Am. J. Med. Genet. A","firstPage":"570","lastPage":"574","volume":"191"},"referencePositions":["INVOLVEMENT IN FZS"]},{"referenceNumber":20,"citation":{"id":"39668183","citationType":"journal article","authors":["Schmid C.M.","Gregor A.","Ruiz A.","Manso Bazus C.","Herman I.","Ammouri F.","Kotzaeridou U.","McNiven V.","Dupuis L.","Steindl K.","Begemann A.","Rauch A.","Suter A.A.","Isidor B.","Mercier S.","Nizon M.","Cogne B.","Deb W.","Besnard T.","Haack T.B.","Falb R.J.","Mueller A.J.","Linden T.","Haldeman-Englert C.R.","Ockeloen C.W.","Mattioli F.","Reymond A.","Ibrahim N.","Naz S.","Lacaze E.","Bassetti J.A.","Hoefele J.","Brunet T.","Riedhammer K.M.","Elloumi H.Z.","Person R.","Zou F.","Kahle J.J.","Cremer K.","Schmidt A.","Delrue M.A.","Almeida P.M.","Ramos F.","Srivastava S.","Quinlan A.","Robertson S.","Manka E.","Kuechler A.","Spranger S.","Nowaczyk M.J.M.","Elshafie R.M.","Alsharhan H.","Hillman P.R.","Dunnington L.A.","Braakman H.M.H.","McKee S.","Moresco A.","Ignat A.D.","Newbury-Ecob R.","Banneau G.","Patat O.","Kuerbitz J.","Rzucidlo S.","Sell S.S.","Gordon P.","Schuhmann S.","Reis A.","Halleb Y.","Stoeva R.","Keren B.","Al Masseri Z.","Tuemer Z.","Hammer-Hansen S.","Krueger Soelyst S.","Steigerwald C.G.","Abreu N.J.","Faust H.","Mueller-Nedebock A.","Tran Mau-Them F.","Sticht H.","Zweier C."],"citationCrossReferences":[{"database":"PubMed","id":"39668183"},{"database":"DOI","id":"10.1038/s41431-024-01760-2"}],"title":"Further delineation of the SCAF4-associated neurodevelopmental disorder.","publicationDate":"2025","journal":"Eur. J. Hum. Genet.","firstPage":"588","lastPage":"594","volume":"33"},"referencePositions":["VARIANTS FZS PRO-11; LEU-13; PRO-118; 191-GLN--ARG-1147 DEL; 233-GLN--ARG-1147 DEL; ILE-236; 349-GLN--ARG-1147 DEL; 426-ARG--ARG-1147 DEL; THR-441; 447-ARG--ARG-1147 DEL; 455-ARG--ARG-1147 DEL; 460-ARG--ARG-1147 DEL; 484-ARG--ARG-1147 DEL; 491-ARG--ARG-1147 DEL; ALA-541; 630-TRP--ARG-1147 DEL AND 681-GLN--ARG-1147 DEL","INVOLVEMENT IN FZS"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AF023142","properties":[{"key":"ProteinId","value":"AAD09327.1"},{"key":"Status","value":"ALT_INIT"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK308406","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL834304","properties":[{"key":"ProteinId","value":"CAD38974.2"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AL117417","properties":[{"key":"ProteinId","value":"CAB55911.1"},{"key":"Status","value":"ALT_SEQ"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AP001711","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC014921","properties":[{"key":"ProteinId","value":"AAH14921.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC052286","properties":[{"key":"ProteinId","value":"AAH52286.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"BC064990","properties":[{"key":"ProteinId","value":"AAH64990.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AB032998","properties":[{"key":"ProteinId","value":"BAA86486.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS33537.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O95104-1"},{"database":"CCDS","id":"CCDS46644.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O95104-2"},{"database":"CCDS","id":"CCDS54482.1","properties":[{"key":"Description","value":"-"}],"isoformId":"O95104-3"},{"database":"RefSeq","id":"NP_001138916.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001145444.1"}],"isoformId":"O95104-3"},{"database":"RefSeq","id":"NP_001138917.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001145445.1"}],"isoformId":"O95104-2"},{"database":"RefSeq","id":"NP_065757.1","properties":[{"key":"NucleotideSequenceId","value":"NM_020706.2"}],"isoformId":"O95104-1"},{"database":"PDB","id":"6XKB","properties":[{"key":"Method","value":"X-ray"},{"key":"Resolution","value":"1.60 A"},{"key":"Chains","value":"A/B/C/D/E=1-139"}]},{"database":"PDBsum","id":"6XKB","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"121536","properties":[{"key":"Interactions","value":"151"}]},{"database":"CORUM","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"FunCoup","id":"O95104","properties":[{"key":"Number of interactors","value":"4420"}]},{"database":"IntAct","id":"O95104","properties":[{"key":"Interactions","value":"61"}]},{"database":"MINT","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"STRING","id":"9606.ENSP00000286835","properties":[{"key":"Description","value":"-"}]},{"database":"GlyCosmos","id":"O95104","properties":[{"key":"glycosylation","value":"1 site, 1 glycan"}]},{"database":"GlyGen","id":"O95104","properties":[{"key":"glycosylation","value":"8 sites, 1 O-linked glycan (4 sites)"}]},{"database":"iPTMnet","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"SCAF4","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000286835","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"10774","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"50653","properties":[{"key":"Description","value":"-"}],"isoformId":"O95104-1"},{"database":"ProteomicsDB","id":"50654","properties":[{"key":"Description","value":"-"}],"isoformId":"O95104-2"},{"database":"Pumba","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"6761","properties":[{"key":"antibodies","value":"101 antibodies from 25 providers"}]},{"database":"DNASU","id":"57466","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000286835.12","properties":[{"key":"ProteinId","value":"ENSP00000286835.7"},{"key":"GeneId","value":"ENSG00000156304.16"}],"isoformId":"O95104-1"},{"database":"Ensembl","id":"ENST00000399804.5","properties":[{"key":"ProteinId","value":"ENSP00000382703.1"},{"key":"GeneId","value":"ENSG00000156304.16"}],"isoformId":"O95104-2"},{"database":"Ensembl","id":"ENST00000434667.3","properties":[{"key":"ProteinId","value":"ENSP00000402377.2"},{"key":"GeneId","value":"ENSG00000156304.16"}],"isoformId":"O95104-3"},{"database":"GeneID","id":"57466","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:57466","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000286835.12","properties":[{"key":"ProteinId","value":"ENSP00000286835.7"},{"key":"RefSeqNucleotideId","value":"NM_020706.2"},{"key":"RefSeqProteinId","value":"NP_065757.1"}]},{"database":"UCSC","id":"uc002ypd.3","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"O95104-1"},{"database":"AGR","id":"HGNC:19304","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA134903281","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"57466","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"57466","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"SCAF4","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:19304","properties":[{"key":"GeneName","value":"SCAF4"}]},{"database":"HPA","id":"ENSG00000156304","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"SCAF4","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"616023","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"620511","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000156304","properties":[{"key":"Description","value":"-"}]},{"database":"Orphanet","id":"528084","properties":[{"key":"Disease","value":"Non-specific syndromic intellectual disability"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000156304","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG0132","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00530000063946","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_005263_0_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"PPQMIAR","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"79367at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"O95104","properties":[{"key":"Number of GO annotations","value":"4 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"O95104","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000156304","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"57466","properties":[{"key":"hits","value":"114 hits in 1169 CRISPR screens"}]},{"database":"ChiTaRS","id":"SCAF4","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"57466","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"O95104","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:O95104","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 21"}]},{"database":"RNAct","id":"O95104","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000156304","properties":[{"key":"ExpressionPatterns","value":"Expressed in tendon of biceps brachii and 181 other cell types or tissues"}]},{"database":"GO","id":"GO:0005654","properties":[{"key":"GoTerm","value":"C:nucleoplasm"},{"key":"GoEvidenceType","value":"IDA:HPA"}]},{"database":"GO","id":"GO:0005634","properties":[{"key":"GoTerm","value":"C:nucleus"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"31104839"}]},{"database":"GO","id":"GO:0003723","properties":[{"key":"GoTerm","value":"F:RNA binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"31104839"}]},{"database":"GO","id":"GO:1990269","properties":[{"key":"GoTerm","value":"F:RNA polymerase II C-terminal domain phosphoserine binding"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"31104839"}]},{"database":"GO","id":"GO:2000805","properties":[{"key":"GoTerm","value":"P:negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"31104839"}]},{"database":"CDD","id":"cd17005","properties":[{"key":"EntryName","value":"CID_SFRS15_SCAF4"},{"key":"MatchStatus","value":"1"}]},{"database":"CDD","id":"cd12461","properties":[{"key":"EntryName","value":"RRM_SCAF4"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"1.25.40.90:FF:000004","properties":[{"key":"EntryName","value":"splicing factor, arginine/serine-rich 15"},{"key":"MatchStatus","value":"1"}]},{"database":"FunFam","id":"3.30.70.330:FF:000094","properties":[{"key":"EntryName","value":"SR-related CTD associated factor 8"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"1.25.40.90","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"Gene3D","id":"3.30.70.330","properties":[{"key":"EntryName","value":"-"},{"key":"MatchStatus","value":"1"}]},{"database":"InterPro","id":"IPR006569","properties":[{"key":"EntryName","value":"CID_dom"}]},{"database":"InterPro","id":"IPR008942","properties":[{"key":"EntryName","value":"ENTH_VHS"}]},{"database":"InterPro","id":"IPR012677","properties":[{"key":"EntryName","value":"Nucleotide-bd_a/b_plait_sf"}]},{"database":"InterPro","id":"IPR035979","properties":[{"key":"EntryName","value":"RBD_domain_sf"}]},{"database":"InterPro","id":"IPR000504","properties":[{"key":"EntryName","value":"RRM_dom"}]},{"database":"InterPro","id":"IPR034369","properties":[{"key":"EntryName","value":"SCAF4_RRM"}]},{"database":"InterPro","id":"IPR051485","properties":[{"key":"EntryName","value":"SR-CTD_assoc_factor"}]},{"database":"PANTHER","id":"PTHR23140","properties":[{"key":"EntryName","value":"RNA PROCESSING PROTEIN LD23810P"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR23140:SF3","properties":[{"key":"EntryName","value":"SR-RELATED AND CTD-ASSOCIATED FACTOR 4"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF04818","properties":[{"key":"EntryName","value":"CID"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF00076","properties":[{"key":"EntryName","value":"RRM_1"},{"key":"MatchStatus","value":"1"}]},{"database":"PRINTS","id":"PR01217","properties":[{"key":"EntryName","value":"PRICHEXTENSN"}]},{"database":"SMART","id":"SM00582","properties":[{"key":"EntryName","value":"RPR"},{"key":"MatchStatus","value":"1"}]},{"database":"SMART","id":"SM00360","properties":[{"key":"EntryName","value":"RRM"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF48464","properties":[{"key":"EntryName","value":"ENTH/VHS domain"},{"key":"MatchStatus","value":"1"}]},{"database":"SUPFAM","id":"SSF54928","properties":[{"key":"EntryName","value":"RNA-binding domain, RBD"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS51391","properties":[{"key":"EntryName","value":"CID"},{"key":"MatchStatus","value":"1"}]},{"database":"PROSITE","id":"PS50102","properties":[{"key":"EntryName","value":"RRM"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MDAVNAFNQELFSLMDMKPPISRAKMILITKAAIKAIKLYKHVVQIVEKFIKKCKPEYKVPGLYVIDSIVRQSRHQFGTDKDVFGPRFSKNITATFQYLYLCPSEDKSKIVRVLNLWQKNGVFKIEIIQPLLDMAAGTSNAAPVAENVTNNEGSPPPPVKVSSEPPTQATPNSVPAVPQLPSSDAFAAVAQLFQTTQGQQLQQILQTFQQPPKPQSPALDNAVMAQVQAITAQLKTTPTQPSEQKAAFPPPEQKTAFDKKLLDRFDYDDEPEAVEESKKEDTTAVTTTAPAAAVPPAPTATVPAAAAPAAASPPPPQAPFGFPGDGMQQPAYTQHQNMDQFQPRMMGIQQDPMHHQVPLPPNGQMPGFGLLPTPPFPPMAQPVIPPTPPVQQPFQASFQAQNEPLTQKPHQQEMEVEQPCIQEVKRHMSDNRKSRSRSASRSPKRRRSRSGSRSRRSRHRRSRSRSRDRRRHSPRSRSQERRDREKERERRQKGLPQVKPETASVCSTTLWVGQLDKRTTQQDVASLLEEFGPIESINMIPPRGCAYIVMVHRQDAYRALQKLSRGNYKVNQKSIKIAWALNKGIKADYKQYWDVELGVTYIPWDKVKPEELESFCEGGMLDSDTLNPDWKGIPKKPENEVAQNGGAETSHTEPVSPIPKPLPVPVPPIPVPAPITVPPPQVPPHQPGPPVVGALQPPAFTPPLGIPPPGFGPGVPPPPPPPPFLRPGFNPMHLPPGFLPPGPPPPITPPVSIPPPHTPPISIPNSTIAGINEDTTKDLSIGNPIPTVVSGARGNAESGDSVKMYGSAVPPAAPTNLPTPPVTQPVSLLGTQGVAPGPVIGLQAPSTGLLGARPGLIPLQRPPGMPPPHLQRFPLMPPRPMPPHMMHRGPPPGPGGFAMPPPHGMKGPFPPHGPFVRPGGMPGLGGPGPGPGGPEDRDGRQQPPQQPQQQPQPQAPQQPQQQQQQQPPPSQQPPPTQQQPQQFRNDNRQQFNSGRDQERFGRRSFGNRVENDRERYGNRNDDRDNSNRDRREWGRRSPDRDRHRDLEERNRRSSGHRDRERDSRDRESRREKEEARGKEKPEVTDRAGGNKTVEPPISQVGNVDTASELEKGVSEAAVLKPSEELPAEATSSVEPEKDSGSAAEAPR","length":1147,"molWeight":125869,"crc64":"DED5EEAB45DB4B83","md5":"8A51E6B5D980BE803F984BFE6D3BDD02"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":3,"DISEASE":1,"SEQUENCE CAUTION":1},"countByFeatureType":{"Chain":1,"Domain":2,"Region":6,"Compositional bias":9,"Modified residue":4,"Alternative sequence":2,"Natural variant":22,"Sequence conflict":17,"Helix":12,"Turn":1},"uniParcId":"UPI0000206D66"}}