CEP78
entrez
84131
canonical
uniprot
Q5JTW2
canonical
ensembl
ENSG00000148019
resolver
ensp
ENSP00000277082
resolver
ensp
ENSP00000365782
resolver
ensp
ENSP00000399286
resolver
ensp
ENSP00000411284
resolver
ensp
ENSP00000493822
resolver
ensp
ENSP00000496423
resolver
ensp
ENSP00000576994
resolver
ensp
ENSP00000576995
resolver
ensp
ENSP00000758724
resolver
enst
ENST00000277082
resolver
enst
ENST00000645398
resolver
genesymbol
CEP78
resolver
genesymbol_syn
C9orf81
resolver
hgnc
HGNC:25740
resolver
uniprot
A0A2R8YCP0
resolver
uniprot
A1A4S8
resolver
uniprot
A8MST6
resolver
uniprot
E9PHX5
resolver
uniprot
Q5BJE3
resolver
uniprot
Q5JTW0
resolver
uniprot
Q5JTW1
resolver
uniprot
Q9H9N3
resolver
uniprot_entry
A0A2R8YCP0_HUMAN
resolver
uniprot_entry
A8MST6_HUMAN
resolver
uniprot_entry
CEP78_HUMAN
resolver
uniprot_sec
A1A4S8
resolver
uniprot_sec
E9PHX5
resolver
uniprot_sec
Q5BJE3
resolver
uniprot_sec
Q5JTW0
resolver
uniprot_sec
Q5JTW1
resolver
uniprot_sec
Q9H9N3
resolver
amino_acid_sequence
MIDSVKLRRDSAADFFSHYEYLCALQNSVPLPAVRACLREGVLDFNADRLRGVDWAPLLSTLKINKDLPLVSIKSFFQPWLGDTGSDMNKFCRSRVPAIRYKDVTFQLCKALKGCLSISSVLKNLELNGLILRERDLTILAKGLNKSASLVHLSLANCPIGDGGLEIICQGIKSSITLKTVNFTGCNLTWQGADHMAKILKYQTMRRHEETWAESLRYRRPDLDCMAGLRRITLNCNTLIGDLGACAFADSLSEDLWLRALDLQQCGLTNEGAKALLEALETNTTLVVLDIRKNPLIDHSMMKAVIKKVLQNGRSAKSEYQWITSPSVKEPSKTAKQKRRTIILGSGHKGKATIRIGLATKKPVSSGRKHSLGKEYYAPAPLPPGVSGFLPWRTAERAKRHRGFPLIKTRDICNQLQQPGFPVTVTVESPSSSEVEEVDDSSESVHEVPEKTSIEQEALQEKLEECLKQLKEERVIRLKVDKRVSELEHENAQLRNINFSLSEALHAQSLTNMILDDEGVLGSIENSFQKFHAFLDLLKDAGLGQLATMAGIDQSDFQLLGHPQMTSTVSNPPKEEKKALEDEKPEPKQNALGQMQNIQFQKITGDARIPLPLDSFPVPVSTPEGLGTSSNNLGVPATEQRQESFEGFIARMCSPSPDATSGTGSQRKEEELSRNSRSSSEKKTKTESH
uniprot
proteins
disease_involvement
DISEASE: Cone-rod dystrophy and hearing loss 1 (CRDHL1) [MIM:617236]: An autosomal recessive disease defined by the association of progressive cone-rod dystrophy with sensorineural hearing loss. Cone-rod dystrophy is characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. {ECO:0000269|PubMed:27588451, ECO:0000269|PubMed:27588452, ECO:0000269|PubMed:27627988, ECO:0000269|PubMed:31999394, ECO:0000269|PubMed:33968938, ECO:0000269|PubMed:34259627, ECO:0000269|PubMed:35240912}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Spermatogenic failure (PubMed:36206347, PubMed:36756949). A male infertility disorder characterized by asthenoteratospermia and multiple morphologic abnormalities of the flagella, resulting in reduced sperm motility (PubMed:36206347, PubMed:36756949). The disease is caused by variants affecting the gene represented in this entry (PubMed:36206347, PubMed:36756949). {ECO:0000269|PubMed:36206347, ECO:0000269|PubMed:36756949}.
uniprot
proteins
function
FUNCTION: Centriole wall protein that localizes to mature centrioles and regulates centriole and cilia biogenesis (PubMed:27246242, PubMed:27588451, PubMed:28242748, PubMed:34259627). Involved in centrosome duplication: required for efficient PLK4 centrosomal localization and PLK4-induced overduplication of centrioles (PubMed:27246242). Involved in cilium biogenesis and controls cilium length (PubMed:27588451). Acts as a regulator of protein stability by preventing ubiquitination of centrosomal proteins, such as CCP110 and tektins (PubMed:28242748, PubMed:34259627). Associates with the EDVP complex, preventing ubiquitination and degradation of CCP110 (PubMed:28242748, PubMed:34259627). Promotes deubiquitination of tektin proteins (TEKT1, TEKT2, TEK3, TEKT4 and TEKT5) via its interaction with USP16 (By similarity). {ECO:0000250|UniProtKB:Q6IRU7, ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:27588451, ECO:0000269|PubMed:28242748, ECO:0000269|PubMed:34259627}.
uniprot
proteins
mass_dalton
76396
uniprot
proteins
mutagenesis
MUTAGEN 262; /note="D->A: Abolished interaction with DCAF1/VPRBP."; /evidence="ECO:0000269|PubMed:28242748"; MUTAGEN 290; /note="D->A: Abolished interaction with DCAF1/VPRBP."; /evidence="ECO:0000269|PubMed:28242748
uniprot
proteins
protein_family
CEP78 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27246242
uniprot
proteins
pubmed
27588451
uniprot
proteins
pubmed
27588452
uniprot
proteins
pubmed
27627988
uniprot
proteins
pubmed
28242748
uniprot
proteins
pubmed
31999394
uniprot
proteins
pubmed
33968938
uniprot
proteins
pubmed
34259627
uniprot
proteins
pubmed
35240912
uniprot
proteins
pubmed
36206347
uniprot
proteins
pubmed
36756949
uniprot
proteins
sequence_length
689
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:28242748, ECO:0000269|PubMed:34259627}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:34259627}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27588451}. Note=Mainly localizes at the centriolar wall, but also found in the pericentriolar material (PubMed:27246242). Expressed in photoreceptor inner segment (PubMed:27588452). {ECO:0000269|PubMed:27246242, ECO:0000269|PubMed:27588452}.
uniprot
proteins