CEP120
entrez
153241
canonical
uniprot
Q8N960
canonical
ensembl
ENSG00000168944
resolver
ensp
ENSP00000303058
resolver
ensp
ENSP00000307419
resolver
ensp
ENSP00000327504
resolver
ensp
ENSP00000421620
resolver
ensp
ENSP00000501697
resolver
ensp
ENSP00000502634
resolver
enst
ENST00000674684
resolver
enst
ENST00000675330
resolver
genesymbol
CEP120
resolver
genesymbol_syn
CCDC100
resolver
hgnc
HGNC:26690
resolver
uniprot
A0A6Q8PF83
resolver
uniprot
A0A6Q8PH95
resolver
uniprot
B4DLH5
resolver
uniprot
Q6AI52
resolver
uniprot
Q6AW89
resolver
uniprot
Q8IWB5
resolver
uniprot
Q8N9Y0
resolver
uniprot
Q8NDE8
resolver
uniprot_entry
A0A6Q8PF83_HUMAN
resolver
uniprot_entry
A0A6Q8PH95_HUMAN
resolver
uniprot_entry
B4DLH5_HUMAN
resolver
uniprot_entry
CE120_HUMAN
resolver
uniprot_sec
Q6AI52
resolver
uniprot_sec
Q6AW89
resolver
uniprot_sec
Q8IWB5
resolver
uniprot_sec
Q8N9Y0
resolver
uniprot_sec
Q8NDE8
resolver
amino_acid_sequence
MVSKSDQLLIVVSILEGRHFPKRPKHMLVVEAKFDGEQLATDPVDHTDQPEFATELAWEIDRKALHQHRLQRTPIKLQCFALDPVTSAKETIGYIVLDLRTAQETKQAPKWYQLLSNKYTKFKSEIQISIALETDTKPPVDSFKAKGAPPRDGKVPAILAGLDPRDIVAVLNEEGGYHQIGPAEYCTDSFIMSVTIAFATQLEQLIPCTMKLPERQPEFFFYYSLLGNDVTNEPFNDLINPNFEPERASVRIRSSVEILRVYLALQSKLQIHLCCGDQSLGSTEIPLTGLLKKGSTEINQHPVTVEGAFTLDPPNRAKQKLAPIPVELAPTVGVSVALQREGIDSQSLIELKTQNEHEPEHSKKKVLTPIKEKTLTGPKSPTVSPVPSHNQSPPTKDDATESEVESLQYDKDTKPNPKASSSVPASLAQLVTTSNASEVASGQKIAVPATSHHFCFSIDLRSIHALEIGFPINCILRYSYPFFGSAAPIMTNPPVEVRKNMEVFLPQSYCAFDFATMPHQLQDTFLRIPLLVELWHKDKMSKDLLLGIARIQLSNILSSEKTRFLGSNGEQCWRQTYSESVPVIAAQGSNNRIADLSYTVTLEDYGLVKMREIFISDSSQGVSAVQQKPSSLPPAPCPSEIQTEPRETLEYKAALELEMWKEMQEDIFENQLKQKELAHMQALAEEWKKRDRERESLVKKKVAEYTILEGKLQKTLIDLEKREQQLASVESELQREKKELQSERQRNLQELQDSIRRAKEDCIHQVELERLKIKQLEEDKHRLQQQLNDAENKYKILEKEFQQFKDQQNNKPEIRLQSEINLLTLEKVELERKLESATKSKLHYKQQWGRALKELARLKQREQESQMARLKKQQEELEQMRLRYLAAEEKDTVKTERQELLDIRNELNRLRQQEQKQYQDSTEIASGKKDGPHGSVLEEGLDDYLTRLIEERDTLMRTGVYNHEDRIISELDRQIREILAKSNASN
uniprot
proteins
disease_involvement
DISEASE: Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) [MIM:616300]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269|PubMed:25361962}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Joubert syndrome 31 (JBTS31) [MIM:617761]: 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. JBTS31 inheritance is autosomal recessive. {ECO:0000269|PubMed:27208211}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity). 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:0000250|UniProtKB:Q7TSG1, ECO:0000269|PubMed:27185865}.
uniprot
proteins
mass_dalton
112640
uniprot
proteins
protein_family
CEP120 family
uniprot
proteins
pubmed
14654843
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15372022
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25361962
uniprot
proteins
pubmed
27185865
uniprot
proteins
pubmed
27208211
uniprot
proteins
pubmed
36590171
uniprot
proteins
sequence_length
986
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:36590171}. Note=Regulates the localization of TACC3 to the centrosome in neural progenitors in vivo. {ECO:0000250|UniProtKB:Q7TSG1}.
uniprot
proteins