{"entryType":"UniProtKB reviewed (Swiss-Prot)","primaryAccession":"Q8CDN8","secondaryAccessions":["Q8CDD6","Q8CDE1"],"uniProtkbId":"CCD38_MOUSE","entryAudit":{"firstPublicDate":"2006-05-16","lastAnnotationUpdateDate":"2026-01-28","lastSequenceUpdateDate":"2003-03-01","entryVersion":111,"sequenceVersion":1},"annotationScore":5.0,"organism":{"scientificName":"Mus musculus","commonName":"Mouse","taxonId":10090,"lineage":["Eukaryota","Metazoa","Chordata","Craniata","Vertebrata","Euteleostomi","Mammalia","Eutheria","Euarchontoglires","Glires","Rodentia","Myomorpha","Muroidea","Muridae","Murinae","Mus","Mus"]},"proteinExistence":"1: Evidence at protein level","proteinDescription":{"recommendedName":{"fullName":{"value":"Coiled-coil domain-containing protein 38"}}},"genes":[{"geneName":{"value":"Ccdc38"}}],"comments":[{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37709195"}],"value":"Essential for male fertility (PubMed:35587122, PubMed:37709195). Required for sperm flagellum biogenesis (PubMed:35587122, PubMed:37709195). Also required for acrosome biogenesis (PubMed:37709195). Required for the attachment of developing acrosomes to the nucleus during spermiogenesis and may be involved in the transport of fibrous sheath components (PubMed:37709195)"}],"commentType":"FUNCTION"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27278724"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37709195"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"38038747"}],"value":"Interacts with CCDC42, CFAP53, IFT88 and ODF2 (PubMed:35587122). Interacts with CCDC146 (PubMed:38038747). Interacts with TEKT3 (PubMed:37709195). Interacts with ubiquitinated histone H2A (PubMed:27278724)"}],"commentType":"SUBUNIT"},{"commentType":"SUBCELLULAR LOCATION","note":{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"}],"value":"Localizes to the sperm flagellum, manchette and the perinuclear region of the sperm head"}]},"subcellularLocations":[{"location":{"evidences":[{"evidenceCode":"ECO:0000250","source":"UniProtKB","id":"Q502W7"}],"value":"Cytoplasm, cytoskeleton, microtubule organizing center, centrosome","id":"SL-0048"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"}],"value":"Cytoplasm, perinuclear region","id":"SL-0198"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"}],"value":"Cell projection, cilium, flagellum","id":"SL-0117"}},{"location":{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"}],"value":"Cytoplasm, cytoskeleton","id":"SL-0090"}}]},{"commentType":"ALTERNATIVE PRODUCTS","events":["Alternative splicing"],"isoforms":[{"name":{"value":"1"},"isoformIds":["Q8CDN8-1"],"isoformSequenceStatus":"Displayed"},{"name":{"value":"2"},"isoformIds":["Q8CDN8-2"],"sequenceIds":["VSP_018331","VSP_018332"],"isoformSequenceStatus":"Described"}]},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27278724"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37709195"}],"value":"Expressed exclusively in testis where it is detected mainly in spermatogonia and spermatocytes (at protein level)"}],"commentType":"TISSUE SPECIFICITY"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"27278724"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37709195"}],"value":"During postnatal testis development, expression is low at weeks 1 and 2, increases between weeks 2 and 8 with a peak at postnatal day 35 and then levels off"}],"commentType":"DEVELOPMENTAL STAGE"},{"texts":[{"evidences":[{"evidenceCode":"ECO:0000269","source":"PubMed","id":"35587122"},{"evidenceCode":"ECO:0000269","source":"PubMed","id":"37709195"}],"value":"Mutant males are infertile (PubMed:35587122, PubMed:37709195). They exhibit normal mounting behaviors and produce coital plugs but fail to produce any offspring after mating with wild-type adult females (PubMed:35587122, PubMed:37709195). Significantly reduced sperm count and motility with spermatozoa displaying morphological abnormalities including short or absent flagella, abnormal nuclei, disordered filaments, abnormally long manchettes and abnormal sperm heads (PubMed:35587122, PubMed:37709195). Impaired fibrous sheaths and disorganized axonemes in sperm flagella (PubMed:37709195). Sperm heads display acrosomal dysplasia (PubMed:37709195). Significantly reduced levels of Cfap53, Ift88, Ift20 and Odf2 in the testis (PubMed:35587122). Significantly decreased levels of Tekt3, Tssk6, Bsg, Akap3 and Cabyr in the testis (PubMed:37709195). Mislocalization of Odf2 with no expression detected in the sperm flagellum (PubMed:35587122). Aberrant localization of Tekt3, Akap3 and Cabyr (PubMed:37709195). Testis size and ratio of testis weight to body weight are unaffected (PubMed:35587122, PubMed:37709195). Fertility of knockout females is normal (PubMed:35587122)"}],"commentType":"DISRUPTION PHENOTYPE"}],"features":[{"type":"Chain","location":{"start":{"value":1,"modifier":"EXACT"},"end":{"value":563,"modifier":"EXACT"}},"description":"Coiled-coil domain-containing protein 38","featureId":"PRO_0000234492"},{"type":"Region","location":{"start":{"value":265,"modifier":"EXACT"},"end":{"value":310,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Region","location":{"start":{"value":543,"modifier":"EXACT"},"end":{"value":563,"modifier":"EXACT"}},"description":"Disordered","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Coiled coil","location":{"start":{"value":128,"modifier":"EXACT"},"end":{"value":211,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Coiled coil","location":{"start":{"value":361,"modifier":"EXACT"},"end":{"value":415,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Coiled coil","location":{"start":{"value":454,"modifier":"EXACT"},"end":{"value":522,"modifier":"EXACT"}},"description":"","evidences":[{"evidenceCode":"ECO:0000255"}]},{"type":"Compositional bias","location":{"start":{"value":269,"modifier":"EXACT"},"end":{"value":281,"modifier":"EXACT"}},"description":"Basic and acidic residues","evidences":[{"evidenceCode":"ECO:0000256","source":"SAM","id":"MobiDB-lite"}]},{"type":"Alternative sequence","location":{"start":{"value":2,"modifier":"EXACT"},"end":{"value":101,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"16141072"}],"featureId":"VSP_018331","alternativeSequence":{}},{"type":"Alternative sequence","location":{"start":{"value":426,"modifier":"EXACT"},"end":{"value":426,"modifier":"EXACT"}},"description":"in isoform 2","evidences":[{"evidenceCode":"ECO:0000303","source":"PubMed","id":"16141072"}],"featureId":"VSP_018332","alternativeSequence":{"originalSequence":"Q","alternativeSequences":["QKQAILRQEPTWKAIYFAEKFIEFLLRSISQPVAKKDPFHLPKYIIYQLKRLQNQVKHRSGE"]}},{"type":"Sequence conflict","location":{"start":{"value":91,"modifier":"EXACT"},"end":{"value":91,"modifier":"EXACT"}},"description":"in Ref. 1; 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