{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q9BRD0","secondaryAccessions":["A8K0S0","Q96LS7"],"uniProtkbId":"BUD13_HUMAN","entryAudit":{"firstPublicDate":"2007-05-15","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2001-06-01","entryVersion":165,"sequenceVersion":1},"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":{"value":"BUD13 homolog"}}},"genes":[{"geneName":{"value":"BUD13"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29360106"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29361316"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35670808"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"33509932"}],"value":"Involved in pre-mRNA splicing as component of the activated spliceosome. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29360106"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29361316"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"33509932"}],"value":"Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well-formed active site but still cannot catalyze the branching reaction and is composed of at least 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Component of the minor spliceosome, which splices U12-type introns (PubMed:33509932)"}],"commentType":"SUBUNIT"},{"commentType":"INTERACTION","interactions":[{"interactantOne":{"uniProtKBAccession":"Q9BRD0","intActId":"EBI-2561235"},"interactantTwo":{"uniProtKBAccession":"Q92917","geneName":"GPKOW","intActId":"EBI-746309"},"numberOfExperiments":14,"organismDiffer":false},{"interactantOne":{"uniProtKBAccession":"Q9BRD0","intActId":"EBI-2561235"},"interactantTwo":{"uniProtKBAccession":"Q9Y388","geneName":"RBMX2","intActId":"EBI-7704044"},"numberOfExperiments":6,"organismDiffer":false}]},{"commentType":"SUBCELLULAR LOCATION","subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29360106"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"29361316"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35670808"}],"value":"Nucleus","id":"SL-0191"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q9BRD0-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q9BRD0-2"],"sequenceIds":["VSP_025590"],"isoformSequenceStatus":"Described"}]},{"commentType":"DISEASE","disease":{"diseaseId":"Achalasia-progeroid syndrome","diseaseAccession":"DI-07010","acronym":"ACHPS","description":"An autosomal recessive syndrome characterized by lipodystrophy with onset in childhood, progeroid appearance, corneal clouding, achalasia, progressive hearing loss, and variable severity. Some affected individuals manifest stunted growth and intellectual disability, and death within the first decade of life has been reported.","diseaseCrossReference":{"database":"MIM","id":"621123"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35670808"}]},"note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35670808"}],"value":"The disease is caused by variants affecting the gene represented in this entry. A nonsense substitution NM_032725.4:c.688C>T, predicted to result in variant p.Arg230Ter, was found in 5 patients. This variant protein as such could not be detected in patients cells, possibly due to nonsense-mediated mRNA decay. However, this variant also affects BUD13 splicing and results in the production of a stable, disease-associated isoform p.Arg230_Arg284del. Expression of p.Arg230_Arg284del inversely correlates with disease severity and life expectancy. Patients with high p.Arg230_Arg284del levels have a milder disease course and survive into adulthood"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"Belongs to the CWC26 family"}],"commentType":"SIMILARITY"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":619,"modifier":"EXACT"}},"description":"BUD13 homolog","featureId":"PRO_0000287688"},{"type":"Region","location":{"start":{"value":20,"modifier":"EXACT"},"end":{"value":56,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":106,"modifier":"EXACT"},"end":{"value":429,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":538,"modifier":"EXACT"},"end":{"value":578,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":433,"modifier":"EXACT"},"end":{"value":520,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Compositional bias","location":{"start":{"value":109,"modifier":"EXACT"},"end":{"value":128,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":160,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":246,"modifier":"EXACT"},"end":{"value":264,"modifier":"EXACT"}},"description":"Polar residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":289,"modifier":"EXACT"},"end":{"value":306,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":335,"modifier":"EXACT"},"end":{"value":353,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":404,"modifier":"EXACT"},"end":{"value":415,"modifier":"EXACT"}},"description":"Low complexity","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Modified residue","location":{"start":{"value":28,"modifier":"EXACT"},"end":{"value":28,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":123,"modifier":"EXACT"},"end":{"value":123,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R149"}]},{"type":"Modified residue","location":{"start":{"value":127,"modifier":"EXACT"},"end":{"value":127,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q4QQU1"}]},{"type":"Modified residue","location":{"start":{"value":135,"modifier":"EXACT"},"end":{"value":135,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":139,"modifier":"EXACT"},"end":{"value":139,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R149"}]},{"type":"Modified residue","location":{"start":{"value":147,"modifier":"EXACT"},"end":{"value":147,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17081983"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Modified residue","location":{"start":{"value":151,"modifier":"EXACT"},"end":{"value":151,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17081983"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"24275569"}]},{"type":"Modified residue","location":{"start":{"value":159,"modifier":"EXACT"},"end":{"value":159,"modifier":"EXACT"}},"description":"Phosphothreonine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":163,"modifier":"EXACT"},"end":{"value":163,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":172,"modifier":"EXACT"},"end":{"value":172,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q4QQU1"}]},{"type":"Modified residue","location":{"start":{"value":175,"modifier":"EXACT"},"end":{"value":175,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R149"}]},{"type":"Modified residue","location":{"start":{"value":197,"modifier":"EXACT"},"end":{"value":197,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":201,"modifier":"EXACT"},"end":{"value":201,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":214,"modifier":"EXACT"},"end":{"value":214,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":222,"modifier":"EXACT"},"end":{"value":222,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":226,"modifier":"EXACT"},"end":{"value":226,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":235,"modifier":"EXACT"},"end":{"value":235,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Modified residue","location":{"start":{"value":236,"modifier":"EXACT"},"end":{"value":236,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Modified residue","location":{"start":{"value":240,"modifier":"EXACT"},"end":{"value":240,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Modified residue","location":{"start":{"value":248,"modifier":"EXACT"},"end":{"value":248,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Modified residue","location":{"start":{"value":258,"modifier":"EXACT"},"end":{"value":258,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":259,"modifier":"EXACT"},"end":{"value":259,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":271,"modifier":"EXACT"},"end":{"value":271,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"17081983"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18220336"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":281,"modifier":"EXACT"},"end":{"value":281,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":325,"modifier":"EXACT"},"end":{"value":325,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"16964243"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18220336"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"19690332"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":354,"modifier":"EXACT"},"end":{"value":354,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"}]},{"type":"Modified residue","location":{"start":{"value":357,"modifier":"EXACT"},"end":{"value":357,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q8R149"}]},{"type":"Modified residue","location":{"start":{"value":358,"modifier":"EXACT"},"end":{"value":358,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"18669648"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"20068231"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"21406692"}]},{"type":"Modified residue","location":{"start":{"value":391,"modifier":"EXACT"},"end":{"value":391,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":407,"modifier":"EXACT"},"end":{"value":407,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Modified residue","location":{"start":{"value":494,"modifier":"EXACT"},"end":{"value":494,"modifier":"EXACT"}},"description":"Phosphotyrosine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"15592455"}]},{"type":"Modified residue","location":{"start":{"value":567,"modifier":"EXACT"},"end":{"value":567,"modifier":"EXACT"}},"description":"Phosphoserine","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"23186163"}]},{"type":"Cross-link","location":{"start":{"value":65,"modifier":"EXACT"},"end":{"value":65,"modifier":"EXACT"}},"description":"Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)","evidences":[{"evidenceCode":"ECO:0007744","source":"PubMed","id":"25218447"},{"evidenceCode":"ECO:0007744","source":"PubMed","id":"28112733"}]},{"type":"Alternative sequence","location":{"start":{"value":212,"modifier":"EXACT"},"end":{"value":345,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_025590","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":120,"modifier":"EXACT"},"end":{"value":120,"modifier":"EXACT"}},"description":"in dbSNP:rs10488698","featureCrossReferences":[{"database":"dbSNP","id":"rs10488698"}],"featureId":"VAR_032343","alternativeSequence":{"originalSequence":"R","alternativeSequences":["C"]}},{"type":"Natural variant","location":{"start":{"value":148,"modifier":"EXACT"},"end":{"value":148,"modifier":"EXACT"}},"description":"in dbSNP:rs11820589","featureCrossReferences":[{"database":"dbSNP","id":"rs11820589"}],"featureId":"VAR_032344","alternativeSequence":{"originalSequence":"P","alternativeSequences":["L"]}},{"type":"Natural variant","location":{"start":{"value":230,"modifier":"EXACT"},"end":{"value":619,"modifier":"EXACT"}},"description":"in ACHPS; likely pathogenic; may be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay; the underlying nucleotide substitution also affects BUD13 splicing, resulting in the production of a disease-associated variant that is expressed in cells from all patients and expression levels are higher in patients with a mild disease course compared to severely affected individuals","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35670808"}],"featureId":"VAR_090578","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":242,"modifier":"EXACT"},"end":{"value":242,"modifier":"EXACT"}},"description":"in dbSNP:rs11216131","featureCrossReferences":[{"database":"dbSNP","id":"rs11216131"}],"featureId":"VAR_032345","alternativeSequence":{"originalSequence":"R","alternativeSequences":["I"]}},{"type":"Natural variant","location":{"start":{"value":388,"modifier":"EXACT"},"end":{"value":388,"modifier":"EXACT"}},"description":"in dbSNP:rs35004487","featureCrossReferences":[{"database":"dbSNP","id":"rs35004487"}],"featureId":"VAR_053908","alternativeSequence":{"originalSequence":"S","alternativeSequences":["C"]}},{"type":"Helix","location":{"start":{"value":481,"modifier":"EXACT"},"end":{"value":499,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]},{"type":"Helix","location":{"start":{"value":501,"modifier":"EXACT"},"end":{"value":519,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]},{"type":"Helix","location":{"start":{"value":523,"modifier":"EXACT"},"end":{"value":525,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]},{"type":"Helix","location":{"start":{"value":529,"modifier":"EXACT"},"end":{"value":536,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]},{"type":"Helix","location":{"start":{"value":546,"modifier":"EXACT"},"end":{"value":556,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]},{"type":"Helix","location":{"start":{"value":562,"modifier":"EXACT"},"end":{"value":564,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"8I0R"}]},{"type":"Helix","location":{"start":{"value":570,"modifier":"EXACT"},"end":{"value":573,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]},{"type":"Helix","location":{"start":{"value":578,"modifier":"EXACT"},"end":{"value":581,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]},{"type":"Helix","location":{"start":{"value":593,"modifier":"EXACT"},"end":{"value":616,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0007829","source":"PDB","id":"7DVQ"}]}],"keywords":[{"id":"KW-0002","category":"Technical term","name":"3D-structure"},{"id":"KW-0025","category":"Coding sequence diversity","name":"Alternative splicing"},{"id":"KW-0175","category":"Domain","name":"Coiled coil"},{"id":"KW-0225","category":"Disease","name":"Disease variant"},{"id":"KW-1017","category":"PTM","name":"Isopeptide bond"},{"id":"KW-0507","category":"Biological process","name":"mRNA processing"},{"id":"KW-0508","category":"Biological process","name":"mRNA splicing"},{"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-0747","category":"Cellular component","name":"Spliceosome"},{"id":"KW-0832","category":"PTM","name":"Ubl conjugation"}],"references":[{"referenceNumber":1,"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] (ISOFORMS 1 AND 2)"],"referenceComments":[{"value":"Amygdala","type":"TISSUE"},{"value":"Brain","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"CI-5GBDQ6B103N1E","citationType":"submission","authors":["Mural R.J.","Istrail S.","Sutton G.G.","Florea L.","Halpern A.L.","Mobarry C.M.","Lippert R.","Walenz B.","Shatkay H.","Dew I.","Miller J.R.","Flanigan M.J.","Edwards N.J.","Bolanos R.","Fasulo D.","Halldorsson B.V.","Hannenhalli S.","Turner R.","Yooseph S.","Lu F.","Nusskern D.R.","Shue B.C.","Zheng X.H.","Zhong F.","Delcher A.L.","Huson D.H.","Kravitz S.A.","Mouchard L.","Reinert K.","Remington K.A.","Clark A.G.","Waterman M.S.","Eichler E.E.","Adams M.D.","Hunkapiller M.W.","Myers E.W.","Venter J.C."],"publicationDate":"JUL-2005","submissionDatabase":"EMBL/GenBank/DDBJ databases"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]},{"referenceNumber":3,"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":"Muscle","type":"TISSUE"}]},{"referenceNumber":4,"citation":{"id":"15592455","citationType":"journal article","authors":["Rush J.","Moritz A.","Lee K.A.","Guo A.","Goss V.L.","Spek E.J.","Zhang H.","Zha X.-M.","Polakiewicz R.D.","Comb M.J."],"citationCrossReferences":[{"database":"PubMed","id":"15592455"},{"database":"DOI","id":"10.1038/nbt1046"}],"title":"Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.","publicationDate":"2005","journal":"Nat. Biotechnol.","firstPage":"94","lastPage":"101","volume":"23"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-494","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":5,"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 THR-147; SER-151 AND SER-271","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":6,"citation":{"id":"16964243","citationType":"journal article","authors":["Beausoleil S.A.","Villen J.","Gerber S.A.","Rush J.","Gygi S.P."],"citationCrossReferences":[{"database":"PubMed","id":"16964243"},{"database":"DOI","id":"10.1038/nbt1240"}],"title":"A probability-based approach for high-throughput protein phosphorylation analysis and site localization.","publicationDate":"2006","journal":"Nat. Biotechnol.","firstPage":"1285","lastPage":"1292","volume":"24"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-325","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":7,"citation":{"id":"18220336","citationType":"journal article","authors":["Cantin G.T.","Yi W.","Lu B.","Park S.K.","Xu T.","Lee J.-D.","Yates J.R. III"],"citationCrossReferences":[{"database":"PubMed","id":"18220336"},{"database":"DOI","id":"10.1021/pr0705441"}],"title":"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.","publicationDate":"2008","journal":"J. Proteome Res.","firstPage":"1346","lastPage":"1351","volume":"7"},"referencePositions":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-271 AND SER-325","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-271; SER-325; SER-354 AND SER-358","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":9,"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-271 AND SER-325","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Leukemic T-cell","type":"TISSUE"}]},{"referenceNumber":10,"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":["PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-147; SER-151; THR-159; SER-163; SER-197; SER-201; SER-222; SER-226; SER-235; SER-240; SER-248; SER-271; SER-325 AND SER-358","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"}]},{"referenceNumber":11,"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 THR-147; SER-151; THR-159; SER-163; SER-222; SER-226; SER-235; SER-236; SER-240; SER-248; SER-271; SER-325 AND SER-358","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":12,"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-28; THR-159; SER-163; SER-197; SER-201; SER-214; SER-222; SER-226; SER-258; SER-259; SER-271; SER-281; SER-325; SER-391; SER-407 AND SER-567","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Cervix carcinoma","type":"TISSUE"},{"value":"Erythroleukemia","type":"TISSUE"}]},{"referenceNumber":13,"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 THR-135 AND SER-151","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":14,"citation":{"id":"25218447","citationType":"journal article","authors":["Hendriks I.A.","D'Souza R.C.","Yang B.","Verlaan-de Vries M.","Mann M.","Vertegaal A.C."],"citationCrossReferences":[{"database":"PubMed","id":"25218447"},{"database":"DOI","id":"10.1038/nsmb.2890"}],"title":"Uncovering global SUMOylation signaling networks in a site-specific manner.","publicationDate":"2014","journal":"Nat. Struct. Mol. Biol.","firstPage":"927","lastPage":"936","volume":"21"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-65","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":15,"citation":{"id":"28112733","citationType":"journal article","authors":["Hendriks I.A.","Lyon D.","Young C.","Jensen L.J.","Vertegaal A.C.","Nielsen M.L."],"citationCrossReferences":[{"database":"PubMed","id":"28112733"},{"database":"DOI","id":"10.1038/nsmb.3366"}],"title":"Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.","publicationDate":"2017","journal":"Nat. Struct. Mol. Biol.","firstPage":"325","lastPage":"336","volume":"24"},"referencePositions":["SUMOYLATION [LARGE SCALE ANALYSIS] AT LYS-65","IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]"]},{"referenceNumber":16,"citation":{"id":"35670808","citationType":"journal article","authors":["Kornak U.","Saha N.","Keren B.","Neumann A.","Taylor Tavares A.L.","Piard J.","Kopp J.","Rodrigues Alves J.G.","Rodriguez de Los Santos M.","El Choubassi N.","Ehmke N.","Jaeger M.","Spielmann M.","Pantel J.T.","Lejeune E.","Fauler B.","Mielke T.","Hecht J.","Meierhofer D.","Strom T.M.","Laugel V.","Brice A.","Mundlos S.","Bertoli-Avella A.","Bauer P.","Heyd F.","Boute O.","Dupont J.","Depienne C.","Van Maldergem L.","Fischer-Zirnsak B."],"citationCrossReferences":[{"database":"PubMed","id":"35670808"},{"database":"DOI","id":"10.1016/j.gim.2022.05.004"}],"title":"Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features.","publicationDate":"2022","journal":"Genet. Med.","firstPage":"1927","lastPage":"1940","volume":"24"},"referencePositions":["INVOLVEMENT IN ACHPS","VARIANT ACHPS 230-ARG--MET-619 DEL","CHARACTERIZATION OF VARIANT ACHPS 230-ARG--MET-619 DEL","FUNCTION","SUBCELLULAR LOCATION"]},{"referenceNumber":17,"citation":{"id":"29361316","citationType":"journal article","authors":["Haselbach D.","Komarov I.","Agafonov D.E.","Hartmuth K.","Graf B.","Dybkov O.","Urlaub H.","Kastner B.","Luhrmann R.","Stark H."],"citationCrossReferences":[{"database":"PubMed","id":"29361316"},{"database":"DOI","id":"10.1016/j.cell.2018.01.010"}],"title":"Structure and Conformational Dynamics of the Human Spliceosomal Bact Complex.","publicationDate":"2018","journal":"Cell","firstPage":"454","lastPage":"464","volume":"172"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY (16.00 ANGSTROMS)","FUNCTION","SUBUNIT","SUBCELLULAR LOCATION"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"6FF4"}]},{"referenceNumber":18,"citation":{"id":"29360106","citationType":"journal article","authors":["Zhang X.","Yan C.","Zhan X.","Li L.","Lei J.","Shi Y."],"citationCrossReferences":[{"database":"PubMed","id":"29360106"},{"database":"DOI","id":"10.1038/cr.2018.14"}],"title":"Structure of the human activated spliceosome in three conformational states.","publicationDate":"2018","journal":"Cell Res.","firstPage":"307","lastPage":"322","volume":"28"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY (4.90 ANGSTROMS)","FUNCTION","SUBUNIT","SUBCELLULAR LOCATION"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"5Z56"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5Z57"},{"evidenceCode":"ECO:0007744","source":"PDB","id":"5Z58"}]},{"referenceNumber":19,"citation":{"id":"33509932","citationType":"journal article","authors":["Bai R.","Wan R.","Wang L.","Xu K.","Zhang Q.","Lei J.","Shi Y."],"citationCrossReferences":[{"database":"PubMed","id":"33509932"},{"database":"DOI","id":"10.1126/science.abg0879"}],"title":"Structure of the activated human minor spliceosome.","publicationDate":"2021","journal":"Science","firstPage":"0","lastPage":"0","volume":"371"},"referencePositions":["STRUCTURE BY ELECTRON MICROSCOPY (2.89 ANGSTROMS)","SUBUNIT"],"evidences":[{"evidenceCode":"ECO:0007744","source":"PDB","id":"7DVQ"}]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AK057832","properties":[{"key":"ProteinId","value":"BAB71593.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AK289635","properties":[{"key":"ProteinId","value":"BAF82324.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"CH471065","properties":[{"key":"ProteinId","value":"EAW67265.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"EMBL","id":"BC006350","properties":[{"key":"ProteinId","value":"AAH06350.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"CCDS","id":"CCDS53712.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9BRD0-2"},{"database":"CCDS","id":"CCDS8374.1","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9BRD0-1"},{"database":"RefSeq","id":"NP_001153208.1","properties":[{"key":"NucleotideSequenceId","value":"NM_001159736.2"}],"isoformId":"Q9BRD0-2"},{"database":"RefSeq","id":"NP_116114.1","properties":[{"key":"NucleotideSequenceId","value":"NM_032725.4"}],"isoformId":"Q9BRD0-1"},{"database":"PDB","id":"5Z56","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"5.10 A"},{"key":"Chains","value":"Z=1-619"}]},{"database":"PDB","id":"5Z57","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"6.50 A"},{"key":"Chains","value":"Z=1-619"}]},{"database":"PDB","id":"5Z58","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.90 A"},{"key":"Chains","value":"Z=1-619"}]},{"database":"PDB","id":"6FF4","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"16.00 A"},{"key":"Chains","value":"3=1-619"}]},{"database":"PDB","id":"6FF7","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"4.50 A"},{"key":"Chains","value":"3=1-619"}]},{"database":"PDB","id":"7ABI","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"8.00 A"},{"key":"Chains","value":"3=1-619"}]},{"database":"PDB","id":"7DVQ","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"2.89 A"},{"key":"Chains","value":"Z=1-619"}]},{"database":"PDB","id":"7QTT","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.10 A"},{"key":"Chains","value":"L=1-619"}]},{"database":"PDB","id":"8CH6","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"5.90 A"},{"key":"Chains","value":"L=1-619"}]},{"database":"PDB","id":"8I0P","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.40 A"},{"key":"Chains","value":"Z=1-619"}]},{"database":"PDB","id":"8I0R","properties":[{"key":"Method","value":"EM"},{"key":"Resolution","value":"3.00 A"},{"key":"Chains","value":"Z=1-619"}]},{"database":"PDBsum","id":"5Z56","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5Z57","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"5Z58","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6FF4","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"6FF7","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7ABI","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7DVQ","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"7QTT","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8CH6","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8I0P","properties":[{"key":"Description","value":"-"}]},{"database":"PDBsum","id":"8I0R","properties":[{"key":"Description","value":"-"}]},{"database":"AlphaFoldDB","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-11697","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-14146","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-16658","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-30875","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-35105","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-35107","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-4255","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-6889","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-6890","properties":[{"key":"Description","value":"-"}]},{"database":"EMDB","id":"EMD-6891","properties":[{"key":"Description","value":"-"}]},{"database":"SMR","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"124272","properties":[{"key":"Interactions","value":"131"}]},{"database":"ComplexPortal","id":"CPX-26447","properties":[{"key":"EntryName","value":"Retention and splicing complex"}]},{"database":"FunCoup","id":"Q9BRD0","properties":[{"key":"Number of interactors","value":"3490"}]},{"database":"IntAct","id":"Q9BRD0","properties":[{"key":"Interactions","value":"609"}]},{"database":"MINT","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"STRING","id":"9606.ENSP00000260210","properties":[{"key":"Description","value":"-"}]},{"database":"iPTMnet","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"PhosphoSitePlus","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"BUD13","properties":[{"key":"Description","value":"-"}]},{"database":"DMDM","id":"74732865","properties":[{"key":"Description","value":"-"}]},{"database":"jPOST","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"MassIVE","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000260210","properties":[{"key":"Description","value":"-"}]},{"database":"PeptideAtlas","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"ProteomicsDB","id":"78758","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9BRD0-1"},{"database":"ProteomicsDB","id":"78759","properties":[{"key":"Description","value":"-"}],"isoformId":"Q9BRD0-2"},{"database":"Pumba","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"52338","properties":[{"key":"antibodies","value":"97 antibodies from 21 providers"}]},{"database":"DNASU","id":"84811","properties":[{"key":"Description","value":"-"}]},{"database":"Ensembl","id":"ENST00000260210.5","properties":[{"key":"ProteinId","value":"ENSP00000260210.3"},{"key":"GeneId","value":"ENSG00000137656.13"}],"isoformId":"Q9BRD0-1"},{"database":"Ensembl","id":"ENST00000375445.7","properties":[{"key":"ProteinId","value":"ENSP00000364594.3"},{"key":"GeneId","value":"ENSG00000137656.13"}],"isoformId":"Q9BRD0-2"},{"database":"GeneID","id":"84811","properties":[{"key":"Description","value":"-"}]},{"database":"KEGG","id":"hsa:84811","properties":[{"key":"Description","value":"-"}]},{"database":"MANE-Select","id":"ENST00000260210.5","properties":[{"key":"ProteinId","value":"ENSP00000260210.3"},{"key":"RefSeqNucleotideId","value":"NM_032725.4"},{"key":"RefSeqProteinId","value":"NP_116114.1"}]},{"database":"UCSC","id":"uc001ppn.4","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q9BRD0-1"},{"database":"AGR","id":"HGNC:28199","properties":[{"key":"Description","value":"-"}]},{"database":"ClinPGx","id":"PA144596512","properties":[{"key":"Description","value":"-"}]},{"database":"CTD","id":"84811","properties":[{"key":"Description","value":"-"}]},{"database":"DisGeNET","id":"84811","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"BUD13","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:28199","properties":[{"key":"GeneName","value":"BUD13"}]},{"database":"HPA","id":"ENSG00000137656","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"BUD13","properties":[{"key":"Description","value":"-"}]},{"database":"MIM","id":"620691","properties":[{"key":"Type","value":"gene"}]},{"database":"MIM","id":"621123","properties":[{"key":"Type","value":"phenotype"}]},{"database":"OpenTargets","id":"ENSG00000137656","properties":[{"key":"Description","value":"-"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000137656","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"KOG2654","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00390000014500","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_024195_3_1_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"OMA","id":"FEAEFQF","properties":[{"key":"Fingerprint","value":"-"}]},{"database":"OrthoDB","id":"6022at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q9BRD0","properties":[{"key":"Number of GO annotations","value":"2 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"Reactome","id":"R-HSA-72163","properties":[{"key":"PathwayName","value":"mRNA Splicing - Major Pathway"}]},{"database":"SignaLink","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"SIGNOR","id":"Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000137656","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"84811","properties":[{"key":"hits","value":"468 hits in 1155 CRISPR screens"}]},{"database":"ChiTaRS","id":"BUD13","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"84811","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q9BRD0","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"PRO","id":"PR:Q9BRD0","properties":[{"key":"Description","value":"-"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 11"}]},{"database":"RNAct","id":"Q9BRD0","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000137656","properties":[{"key":"ExpressionPatterns","value":"Expressed in secondary oocyte and 171 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q9BRD0","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"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":"29360106"}]},{"database":"GO","id":"GO:0070274","properties":[{"key":"GoTerm","value":"C:RES complex"},{"key":"GoEvidenceType","value":"ISS:BHF-UCL"}],"evidences":[{"evidenceCode":"ECO:0000250","source":"PubMed","id":"15565172"}]},{"database":"GO","id":"GO:0005681","properties":[{"key":"GoTerm","value":"C:spliceosomal complex"},{"key":"GoEvidenceType","value":"IPI:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"39068178"}]},{"database":"GO","id":"GO:0071018","properties":[{"key":"GoTerm","value":"C:U12-type catalytic step 2 spliceosome"},{"key":"GoEvidenceType","value":"IPI:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"33509932"}]},{"database":"GO","id":"GO:0005686","properties":[{"key":"GoTerm","value":"C:U2 snRNP"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"31744343"}]},{"database":"GO","id":"GO:0071006","properties":[{"key":"GoTerm","value":"C:U2-type catalytic step 1 spliceosome"},{"key":"GoEvidenceType","value":"IPI:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000353","source":"PubMed","id":"39068178"}]},{"database":"GO","id":"GO:0071005","properties":[{"key":"GoTerm","value":"C:U2-type precatalytic spliceosome"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"29360106"}]},{"database":"GO","id":"GO:0005684","properties":[{"key":"GoTerm","value":"C:U2-type spliceosomal complex"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0003723","properties":[{"key":"GoTerm","value":"F:RNA binding"},{"key":"GoEvidenceType","value":"HDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0007005","source":"PubMed","id":"22658674"}]},{"database":"GO","id":"GO:0000398","properties":[{"key":"GoTerm","value":"P:mRNA splicing, via spliceosome"},{"key":"GoEvidenceType","value":"IDA:UniProtKB"}],"evidences":[{"evidenceCode":"ECO:0000314","source":"PubMed","id":"29360106"}]},{"database":"GO","id":"GO:1903241","properties":[{"key":"GoTerm","value":"P:U2-type prespliceosome assembly"},{"key":"GoEvidenceType","value":"NAS:ComplexPortal"}],"evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"31744343"}]},{"database":"InterPro","id":"IPR018609","properties":[{"key":"EntryName","value":"Bud13"}]},{"database":"InterPro","id":"IPR051112","properties":[{"key":"EntryName","value":"CWC26_splicing_factor"}]},{"database":"PANTHER","id":"PTHR31809","properties":[{"key":"EntryName","value":"BUD13 HOMOLOG"},{"key":"MatchStatus","value":"1"}]},{"database":"PANTHER","id":"PTHR31809:SF0","properties":[{"key":"EntryName","value":"BUD13 HOMOLOG"},{"key":"MatchStatus","value":"1"}]},{"database":"Pfam","id":"PF09736","properties":[{"key":"EntryName","value":"Bud13"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MAAAPPLSKAEYLKRYLSGADAGVDRGSESGRKRRKKRPKPGGAGGKGMRIVDDDVSWTAISTTKLEKEEEEDDGDLPVVAEFVDERPEEVKQMEAFRSSAKWKLLGGHNEDLPSNRHFRHDTPDSSPRRVRHGTPDPSPRKDRHDTPDPSPRRARHDTPDPSPLRGARHDSDTSPPRRIRHDSSDTSPPRRARHDSPDPSPPRRPQHNSSGASPRRVRHDSPDPSPPRRARHGSSDISSPRRVHNNSPDTSRRTLGSSDTQQLRRARHDSPDLAPNVTYSLPRTKSGKAPERASSKTSPHWKESGASHLSFPKNSKYEYDPDISPPRKKQAKSHFGDKKQLDSKGDCQKATDSDLSSPRHKQSPGHQDSDSDLSPPRNRPRHRSSDSDLSPPRRRQRTKSSDSDLSPPRRSQPPGKKAAHMYSGAKTGLVLTDIQREQQELKEQDQETMAFEAEFQYAETVFRDKSGRKRNLKLERLEQRRKAEKDSERDELYAQWGKGLAQSRQQQQNVEDAMKEMQKPLARYIDDEDLDRMLREQEREGDPMANFIKKNKAKENKNKKVRPRYSGPAPPPNRFNIWPGYRWDGVDRSNGFEQKRFARLASKKAVEELAYKWSVEDM","length":619,"molWeight":70521,"crc64":"98B7732B4AA158FF","md5":"EB0DBD25B2F5A8A3AE92BC5D89BCABA6"},"extraAttributes":{"countByCommentType":{"FUNCTION":1,"SUBUNIT":1,"INTERACTION":2,"SUBCELLULAR LOCATION":1,"ALTERNATIVE PRODUCTS":2,"DISEASE":1,"SIMILARITY":1},"countByFeatureType":{"Chain":1,"Region":3,"Coiled coil":1,"Compositional bias":6,"Modified residue":32,"Cross-link":1,"Alternative sequence":1,"Natural variant":5,"Helix":9},"uniParcId":"UPI0000072AE6"}}