{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q5JVL4","secondaryAccessions":["B4DMU3","F5GZD8","Q5XKM4","Q6E1U7","Q6E1U8","Q8WUL2","Q9NVW6"],"uniProtkbId":"EFHC1_HUMAN","entryAudit":{"firstPublicDate":"2005-10-25","lastAnnotationUpdateDate":"2026-09-02","lastSequenceUpdateDate":"2005-02-15","entryVersion":180,"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":"EF-hand domain-containing protein 1"}},"alternativeNames":[{"fullName":{"value":"Myoclonin-1"}}]},"genes":[{"geneName":{"evidences":[{"evidenceCode":"ECO:0000312","source":"HGNC","id":"HGNC:16406"}],"value":"EFHC1"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15258581"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19734894"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22926142"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28370826"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"36191189"}],"value":"Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme, which is required for motile cilia beating (PubMed:36191189). 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Not detected in lymphocytes"}],"commentType":"TISSUE SPECIFICITY"},{"commentType":"DISEASE","disease":{"diseaseId":"Juvenile myoclonic epilepsy 1","diseaseAccession":"DI-00615","acronym":"EJM1","description":"A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.","diseaseCrossReference":{"database":"MIM","id":"254770"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"15258581"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17634063"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22690745"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22727576"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22926142"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"28370826"}]},"note":{"texts":[{"value":"Disease susceptibility is associated with variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","disease":{"diseaseId":"Juvenile absence epilepsy 1","diseaseAccession":"DI-00613","acronym":"JAE1","description":"A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures.","diseaseCrossReference":{"database":"MIM","id":"607631"},"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"17159113"},{"evidenceCode":"ECO:0000305","source":"PubMed","id":"17159113"}]},"note":{"texts":[{"value":"Disease susceptibility is associated with variants affecting the gene represented in this entry"}]}},{"commentType":"DISEASE","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"22690745"}],"value":"Mutation Leu-229 may be a cause of intractable epilepsy of infancy. 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Although heterozygosity for Leu-229 has been associated with relatively benign forms of epilepsy in adolescence, homozygosity for the same mutation has much more severe consequences"}]}},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000305"}],"value":"May be due to intron retention"}],"commentType":"MISCELLANEOUS","molecule":"Isoform 2"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":640,"modifier":"EXACT"}},"description":"EF-hand domain-containing protein 1","featureId":"PRO_0000073877"},{"type":"Domain","location":{"start":{"value":93,"modifier":"EXACT"},"end":{"value":198,"modifier":"EXACT"}},"description":"DM10 1","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00665"}]},{"type":"Domain","location":{"start":{"value":239,"modifier":"EXACT"},"end":{"value":359,"modifier":"EXACT"}},"description":"DM10 2","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00665"}]},{"type":"Domain","location":{"start":{"value":416,"modifier":"EXACT"},"end":{"value":520,"modifier":"EXACT"}},"description":"DM10 3","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00665"}]},{"type":"Domain","location":{"start":{"value":574,"modifier":"EXACT"},"end":{"value":609,"modifier":"EXACT"}},"description":"EF-hand","evidences":[{"evidenceCode":"ECO:0000255","source":"PROSITE-ProRule","id":"PRU00448"}]},{"type":"Region","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":45,"modifier":"EXACT"}},"description":"Required for its localization in the mitotic spindle and interaction with alpha-tubulin","evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"19734894"}]},{"type":"Region","location":{"start":{"value":535,"modifier":"EXACT"},"end":{"value":554,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Compositional bias","location":{"start":{"value":538,"modifier":"EXACT"},"end":{"value":554,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Alternative sequence","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":21,"modifier":"EXACT"}},"description":"in isoform 3","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"14702039"}],"featureId":"VSP_046107","alternativeSequence":{"originalSequence":"MVSNPVHGLPFLPGTSFKDST","alternativeSequences":["ML"]}},{"type":"Alternative sequence","location":{"start":{"value":243,"modifier":"EXACT"},"end":{"value":278,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15258581"}],"featureId":"VSP_015894","alternativeSequence":{"originalSequence":"LRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREV","alternativeSequences":["SDIGTTIGLLISKCDLHLLAKGLGSCIGNYFETLQL"]}},{"type":"Alternative sequence","location":{"start":{"value":279,"modifier":"EXACT"},"end":{"value":640,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"15258581"}],"featureId":"VSP_015895","alternativeSequence":{}},{"type":"Natural variant","location":{"start":{"value":77,"modifier":"EXACT"},"end":{"value":77,"modifier":"EXACT"}},"description":"in EJM1; 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