CEP135
entrez
9662
canonical
uniprot
Q66GS9
canonical
ensembl
ENSG00000174799
resolver
ensp
ENSP00000257287
resolver
ensp
ENSP00000586163
resolver
genesymbol
CEP135
resolver
genesymbol_syn
CEP4
resolver
genesymbol_syn
KIAA0635
resolver
hgnc
HGNC:29086
resolver
uniprot
B2RMY0
resolver
uniprot
O75130
resolver
uniprot
Q58F25
resolver
uniprot
Q9H8H7
resolver
uniprot_entry
CP135_HUMAN
resolver
uniprot_sec
B2RMY0
resolver
uniprot_sec
O75130
resolver
uniprot_sec
Q58F25
resolver
uniprot_sec
Q9H8H7
resolver
amino_acid_sequence
MTTAVERKYINIRKRLDQLGYRQTLTVECLPLVEKLFSDLVHTTESLRQSKLSAVKAEKESANFDFVLEPYKLENARLSRENNELYLELMKLREHSDQHVKELKTSLKKCARETADLKFLNNQYAHKLKLLEKESKAKNERIQQLQEKNLHAVVQTPGGKKRSIAFRRQRMQIDEPVPPSEVSSYPVPQPDDPYIADLLQVADNRIQELQQEVHQLQEKLAMMESGVRDYSKQIELREREIERLSVALDGGRSPDVLSLESRNKTNEKLIAHLNIQVDFLQQANKDLEKRIRELMETKETVTSEVVNLSNKNEKLCQELTEIDQLAQQLERHKEEVLETADKELGEAKKEIKRKLSEMQDLEETMAKLQLELNLCQKEKERLSDELLVKSDLETVVHQLEQEKQRLSKKVESFAVTERQLTLEVERMRLEHGIKRRDRSPSRLDTFLKGIEEERDYYKKELERLQHIIQRRSCSTSYSAREKSSIFRTPEKGDYNSEIHQITRERDELQRMLERFEKYMEDIQSNVKLLTAERDKLSVLYNEAQEELSALRKESTQTTAPHNIVSLMEKEKELALSDLRRIMAEKEALREKLEHIEEVSLFGKSELEKTIEHLTCVNHQLESEKYELKSKVLIMKETIESLENKLKVQAQKFSHVAGDSSHQKTEVNSLRIVNEQLQRSVDDYQHRLSIKRGELESAQAQIKILEEKIDELNLKMTSQDEEAHVMKKTIGVIDKEKDFLQETVDEKTEKIANLQENLANKEKAVAQMKIMISECESSVNQLKETLVNRDREINSLRRQLDAAHKELDEVGRSREIAFKENRRLQDDLATMARENQEISLELEAAVQEKEEMKSRVHKYITEVSRWESLMAAKEKENQDLLDRFQMLHNRAEDWEVKAHQAEGESSSVRLELLSIDTERRHLRERVELLEKEIQEHINAHHAYESQISSMAKAMSRLEEELRHQEDEKATVLNDLSSLRELCIKLDSGKDIMTQQLNSKNLEFERVVVELENVKSESDLLKKQLSNERHTVKNLESLLATNRDKEFHSHLTSHEKDTEIQLLKEKLTLSESKLTSQSRENTMLRAKVAQLQTDYDALKRQISTERYERERAIQEMRRHGLATPPLSSTLRSPSHSPEHRNV
uniprot
proteins
disease_involvement
DISEASE: Microcephaly 8, primary, autosomal recessive (MCPH8) [MIM:614673]: A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals have severe intellectual disability. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. {ECO:0000269|PubMed:22521416}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Centrosomal microtubule-binding protein involved in centriole biogenesis (PubMed:27477386). Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865). {ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:18851962, ECO:0000269|PubMed:26675238, ECO:0000269|PubMed:27185865, ECO:0000269|PubMed:27477386}.
uniprot
proteins
mass_dalton
133490
uniprot
proteins
mutagenesis
MUTAGEN 101; /note="K->A: Reduced microtubule binding ability but normal coiled-coil homodimerization; when associated with A-104 and A-108."; /evidence="ECO:0000269|PubMed:27477386"; MUTAGEN 104; /note="K->A: Reduced microtubule binding ability but normal coiled-coil homodimerization; when associated with A-101 and A-108."; /evidence="ECO:0000269|PubMed:27477386"; MUTAGEN 108; /note="K->A: Reduced microtubule binding ability but normal coiled-coil homodimerization; when associated with A-101 and A-104."; /evidence="ECO:0000269|PubMed:27477386
uniprot
proteins
protein_family
CEP135/TSGA10 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
17681131
uniprot
proteins
pubmed
18851962
uniprot
proteins
pubmed
22521416
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26675238
uniprot
proteins
pubmed
27185865
uniprot
proteins
pubmed
27477386
uniprot
proteins
pubmed
30135143
uniprot
proteins
pubmed
32060285
uniprot
proteins
pubmed
32946374
uniprot
proteins
pubmed
9734811
uniprot
proteins
sequence_length
1140
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:17681131, ECO:0000269|PubMed:32060285, ECO:0000269|PubMed:32946374}. Note=During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.
uniprot
proteins