{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q6ZVN7","uniProtkbId":"SEML_HUMAN","entryAudit":{"firstPublicDate":"2008-02-26","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2008-02-26","entryVersion":117,"sequenceVersion":2},"annotationScore":2.0,"organism":{"scientificName":"Homo sapiens","commonName":"Human","taxonId":9606,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Primates","Haplorrhini","Catarrhini","Hominidae","Homo"]},"proteinExistence":"2: Evidence at transcript level","proteinDescription":{"recommendedName":{"fullName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:10845"}],"value":"Putative protein SEM1, isoform 2"}}},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:10845"}],"value":"SEM1"},"synonyms":[{"value":"C7orf76"}]}],"comments":[{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative promoter usage"],"isoforms":[{"name":{"value":"2"},"isoformIds":["Q6ZVN7-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"1"},"isoformIds":["P60896-1"],"isoformSequenceStatus":"External"}]}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":128,"modifier":"EXACT"}},"description":"Putative protein SEM1, isoform 2","featureId":"PRO_0000319035"},{"type":"Region","location":{"start":{"value":22,"modifier":"EXACT"},"end":{"value":42,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":22,"modifier":"EXACT"},"end":{"value":32,"modifier":"EXACT"}},"description":"Basic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Sequence conflict","location":{"start":{"value":86,"modifier":"EXACT"},"end":{"value":86,"modifier":"EXACT"}},"description":"in Ref. 1; BAC85824","evidences":[{"evidenceCode":"ECO:0000305"}],"alternativeSequence":{"originalSequence":"R","alternativeSequences":["G"]}}],"keywords":[{"id":"KW-0877","category":"Coding sequence diversity","name":"Alternative promoter usage"},{"id":"KW-1185","category":"Technical term","name":"Reference proteome"}],"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]"],"referenceComments":[{"value":"Liver","type":"TISSUE"}]},{"referenceNumber":2,"citation":{"id":"12853948","citationType":"journal article","authors":["Hillier L.W.","Fulton R.S.","Fulton L.A.","Graves T.A.","Pepin K.H.","Wagner-McPherson C.","Layman D.","Maas J.","Jaeger S.","Walker R.","Wylie K.","Sekhon M.","Becker M.C.","O'Laughlin M.D.","Schaller M.E.","Fewell G.A.","Delehaunty K.D.","Miner T.L.","Nash W.E.","Cordes M.","Du H.","Sun H.","Edwards J.","Bradshaw-Cordum H.","Ali J.","Andrews S.","Isak A.","Vanbrunt A.","Nguyen C.","Du F.","Lamar B.","Courtney L.","Kalicki J.","Ozersky P.","Bielicki L.","Scott K.","Holmes A.","Harkins R.","Harris A.","Strong C.M.","Hou S.","Tomlinson C.","Dauphin-Kohlberg S.","Kozlowicz-Reilly A.","Leonard S.","Rohlfing T.","Rock S.M.","Tin-Wollam A.-M.","Abbott A.","Minx P.","Maupin R.","Strowmatt C.","Latreille P.","Miller N.","Johnson D.","Murray J.","Woessner J.P.","Wendl M.C.","Yang S.-P.","Schultz B.R.","Wallis J.W.","Spieth J.","Bieri T.A.","Nelson J.O.","Berkowicz N.","Wohldmann P.E.","Cook L.L.","Hickenbotham M.T.","Eldred J.","Williams D.","Bedell J.A.","Mardis E.R.","Clifton S.W.","Chissoe S.L.","Marra M.A.","Raymond C.","Haugen E.","Gillett W.","Zhou Y.","James R.","Phelps K.","Iadanoto S.","Bubb K.","Simms E.","Levy R.","Clendenning J.","Kaul R.","Kent W.J.","Furey T.S.","Baertsch R.A.","Brent M.R.","Keibler E.","Flicek P.","Bork P.","Suyama M.","Bailey J.A.","Portnoy M.E.","Torrents D.","Chinwalla A.T.","Gish W.R.","Eddy S.R.","McPherson J.D.","Olson M.V.","Eichler E.E.","Green E.D.","Waterston R.H.","Wilson R.K."],"citationCrossReferences":[{"database":"PubMed","id":"12853948"},{"database":"DOI","id":"10.1038/nature01782"}],"title":"The DNA sequence of human chromosome 7.","publicationDate":"2003","journal":"Nature","firstPage":"157","lastPage":"164","volume":"424"},"referencePositions":["NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]"]}],"uniProtKBCrossReferences":[{"database":"EMBL","id":"AK124274","properties":[{"key":"ProteinId","value":"BAC85824.1"},{"key":"Status","value":"-"},{"key":"MoleculeType","value":"mRNA"}]},{"database":"EMBL","id":"AC092031","properties":[{"key":"ProteinId","value":"-"},{"key":"Status","value":"NOT_ANNOTATED_CDS"},{"key":"MoleculeType","value":"Genomic_DNA"}]},{"database":"AlphaFoldDB","id":"Q6ZVN7","properties":[{"key":"Description","value":"-"}]},{"database":"BioGRID","id":"135063","properties":[{"key":"Interactions","value":"58"}]},{"database":"FunCoup","id":"Q6ZVN7","properties":[{"key":"Number of interactors","value":"155"}]},{"database":"NDEx","id":"IQUERY-CP-SEM1","properties":[{"key":"Evidences","value":"3 NDEx IQuery Curated Pathways"}]},{"database":"STRING","id":"9606.ENSP00000481021","properties":[{"key":"Description","value":"-"}]},{"database":"BioMuta","id":"SEM1","properties":[{"key":"Description","value":"-"}]},{"database":"PaxDb","id":"9606-ENSP00000481021","properties":[{"key":"Description","value":"-"}]},{"database":"Antibodypedia","id":"30181","properties":[{"key":"antibodies","value":"142 antibodies from 28 providers"}]},{"database":"Ensembl","id":"ENST00000356686.2","properties":[{"key":"ProteinId","value":"ENSP00000349114.1"},{"key":"GeneId","value":"ENSG00000127922.11"}]},{"database":"UCSC","id":"uc064fom.1","properties":[{"key":"OrganismName","value":"human"}],"isoformId":"Q6ZVN7-1"},{"database":"AGR","id":"HGNC:10845","properties":[{"key":"Description","value":"-"}]},{"database":"GeneCards","id":"SEM1","properties":[{"key":"Description","value":"-"}]},{"database":"HGNC","id":"HGNC:10845","properties":[{"key":"GeneName","value":"SEM1"}]},{"database":"HPA","id":"ENSG00000127922","properties":[{"key":"ExpressionPatterns","value":"Low tissue specificity"}]},{"database":"MalaCards","id":"SEM1","properties":[{"key":"Description","value":"-"}]},{"database":"OpenTargets","id":"ENSG00000127922","properties":[{"key":"Description","value":"-"}]},{"database":"VEuPathDB","id":"HostDB:ENSG00000127922","properties":[{"key":"Description","value":"-"}]},{"database":"eggNOG","id":"ENOG502TE1I","properties":[{"key":"ToxonomicScope","value":"Eukaryota"}]},{"database":"GeneTree","id":"ENSGT00940000162732","properties":[{"key":"Description","value":"-"}]},{"database":"HOGENOM","id":"CLU_2009139_0_0_1","properties":[{"key":"Description","value":"-"}]},{"database":"InParanoid","id":"Q6ZVN7","properties":[{"key":"Description","value":"-"}]},{"database":"OrthoDB","id":"9527655at2759","properties":[{"key":"Description","value":"-"}]},{"database":"PAN-GO","id":"Q6ZVN7","properties":[{"key":"Number of GO annotations","value":"2 GO annotations based on evolutionary models"}]},{"database":"PhylomeDB","id":"Q6ZVN7","properties":[{"key":"Description","value":"-"}]},{"database":"PathwayCommons","id":"Q6ZVN7","properties":[{"key":"Description","value":"-"}]},{"database":"SignaLink","id":"Q6ZVN7","properties":[{"key":"Description","value":"-"}]},{"database":"Agora","id":"ENSG00000127922","properties":[{"key":"NominatedTarget","value":"-"}]},{"database":"BioGRID-ORCS","id":"7979","properties":[{"key":"hits","value":"692 hits in 1156 CRISPR screens"}]},{"database":"ChiTaRS","id":"SHFM1","properties":[{"key":"OrganismName","value":"human"}]},{"database":"GenomeRNAi","id":"7979","properties":[{"key":"Description","value":"-"}]},{"database":"Pharos","id":"Q6ZVN7","properties":[{"key":"DevelopmentLevel","value":"Tbio"}]},{"database":"Proteomes","id":"UP000005640","properties":[{"key":"Component","value":"Chromosome 7"}]},{"database":"RNAct","id":"Q6ZVN7","properties":[{"key":"moleculeType","value":"protein"}]},{"database":"Bgee","id":"ENSG00000127922","properties":[{"key":"ExpressionPatterns","value":"Expressed in calcaneal tendon and 204 other cell types or tissues"}]},{"database":"ExpressionAtlas","id":"Q6ZVN7","properties":[{"key":"ExpressionPatterns","value":"baseline and differential"}]},{"database":"GO","id":"GO:0000502","properties":[{"key":"GoTerm","value":"C:proteasome complex"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"GO","id":"GO:0000724","properties":[{"key":"GoTerm","value":"P:double-strand break repair via homologous recombination"},{"key":"GoEvidenceType","value":"IBA:GO_Central"}]},{"database":"InterPro","id":"IPR041319","properties":[{"key":"EntryName","value":"DUF5543"}]},{"database":"Pfam","id":"PF17697","properties":[{"key":"EntryName","value":"DUF5543"},{"key":"MatchStatus","value":"1"}]}],"sequence":{"value":"MYCQDSNICAVFAVQGGKVGRKHGIKRGRRPSIRSPAQRARGPWIHESKHPAFAKQQINLEMPNSRATTELAWVCSSTSRKKKWARSLTLSTAPLSPPPSLVHCEDCSCLPGCHSGDLYNLAPAERTC","length":128,"molWeight":14085,"crc64":"168AB7945F5ADAB8","md5":"0763173623DF055D5C6AC42EC896B389"},"extraAttributes":{"countByCommentType":{"ALTERNATIVE PRODUCTS":2},"countByFeatureType":{"Chain":1,"Region":1,"Compositional bias":1,"Sequence conflict":1},"uniParcId":"UPI000022D04C"}}