CEP104
entrez
9731
canonical
uniprot
O60308
canonical
ensembl
ENSG00000116198
resolver
ensp
ENSP00000367476
resolver
ensp
ENSP00000502246
resolver
ensp
ENSP00000564432
resolver
ensp
ENSP00000594004
resolver
genesymbol
CEP104
resolver
genesymbol_syn
KIAA0562
resolver
hgnc
HGNC:24866
resolver
uniprot
A0A024R4G3
resolver
uniprot
Q5JSQ3
resolver
uniprot
Q5SR24
resolver
uniprot
Q5SR25
resolver
uniprot
Q6PKF5
resolver
uniprot
Q86W32
resolver
uniprot
Q86X14
resolver
uniprot_entry
CE104_HUMAN
resolver
uniprot_sec
A0A024R4G3
resolver
uniprot_sec
Q5JSQ3
resolver
uniprot_sec
Q5SR24
resolver
uniprot_sec
Q5SR25
resolver
uniprot_sec
Q6PKF5
resolver
uniprot_sec
Q86W32
resolver
uniprot_sec
Q86X14
resolver
amino_acid_sequence
MPHKIGFVVVSSSGHEDGFSARELMIHAPTVSGWRSPRFCQFPQEIVLQMVERCRIRKLQLLAHQYMISSKIEFYISESLPEYFAPYQAERFRRLGYVSLCDNEKTGCKARELKSVYVDAVGQFLKLIFHQNHVNKYNIYNQVALVAINIIGDPADFSDESNTASREKLIDHYLGHNSEDPALEGTYARKSDYISPLDDLAFDMYQDPEVAQIIRKLDERKREAVQKERYDYAKKLKQAIADLQKVGERLGRYEVEKRCAVEKEDYDLAKEKKQQMEQYRAEVYEQLELHSLLDAELMRRPFDLPLQPLARSGSPCHQKPMPSLPQLEERGTENQFAEPFLQEKPSSYSLTISPQHSAVDPLLPATDPHPKINAESLPYDERPLPAIRKHYGEAVVEPEMSNADISDARRGGMLGEPEPLTEKALREASSAIDVLGETLVAEAYCKTWSYREDALLALSKKLMEMPVGTPKEDLKNTLRASVFLVRRAIKDIVTSVFQASLKLLKMIITQYIPKHKLSKLETAHCVERTIPVLLTRTGDSSARLRVTAANFIQEMALFKEVKSLQIIPSYLVQPLKANSSVHLAMSQMGLLARLLKDLGTGSSGFTIDNVMKFSVSALEHRVYEVRETAVRIILDMYRQHQASILEYLPPDDSNTRRNILYKTIFEGFAKIDGRATDAEMRARRKAATEEAEKQKKEEIKALQGQLAALKEIQAEVQEKESDAVKPKNQDIQGGKAAPAEALGIPDEHYLDNLCIFCGERSESFTEEGLDLHYWKHCLMLTRCDHCKQVVEISSLTEHLLTECDKKDGFGKCYRCSEAVFKEELPRHIKHKDCNPAKPEKLANRCPLCHENFSPGEEAWKAHLMGPAGCTMNLRKTHILQKAPALQPGKSSAVAASGPLGSKAGSKIPTPKGGLSKSSSRTYAKR
uniprot
proteins
disease_involvement
DISEASE: Joubert syndrome 25 (JBTS25) [MIM:616781]: A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS25 clinical manifestations appear to be confined to the neurologic system. JBTS25 inheritance is autosomal recessive. {ECO:0000269|PubMed:26477546}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Intellectual developmental disorder, autosomal recessive 77 (MRT77) [MIM:619988]: An autosomal recessive neurodevelopmental disorder apparent from infancy and characterized by global developmental delay, variably impaired cognitive development, delayed walking, and poor speech in some cases. {ECO:0000269|PubMed:34196201, ECO:0000269|PubMed:35359234}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Required for ciliogenesis and for structural integrity at the ciliary tip. {ECO:0000269|PubMed:23970417}.
uniprot
proteins
mass_dalton
104448
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21399614
uniprot
proteins
pubmed
22885064
uniprot
proteins
pubmed
23970417
uniprot
proteins
pubmed
26477546
uniprot
proteins
pubmed
32453716
uniprot
proteins
pubmed
34196201
uniprot
proteins
pubmed
35359234
uniprot
proteins
pubmed
36606424
uniprot
proteins
pubmed
9628581
uniprot
proteins
sequence_length
925
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:23970417, ECO:0000269|PubMed:36606424}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:21399614, ECO:0000269|PubMed:23970417}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23970417}. Cytoplasm, cytoskeleton, spindle pole. Note=In interphase non-ciliated cells, localizes to the distal ends of both the mother and daughter centrioles. In ciliated cells, present at the distal end of the daughter centriole, but not on the mother centriole, and at the tip of primary cilium. Localization at the ciliary tip is also observed in motile cilia. Throughout S phase, associated with both mother and daughter centrioles in each centrosome. During metaphase and telophase, present at both spindle poles. {ECO:0000269|PubMed:23970417}.
uniprot
proteins