Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57562
Gene name Gene Name - the full gene name approved by the HGNC.
Centrosomal protein 126
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEP126
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA1377
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT742247 hsa-miR-129-5p HITS-CLIP 27418678
MIRT742247 hsa-miR-129-5p HITS-CLIP 27418678
MIRT742247 hsa-miR-129-5p HITS-CLIP 27418678
MIRT742454 hsa-miR-26a-1-3p HITS-CLIP 27418678
MIRT742455 hsa-miR-26a-2-3p HITS-CLIP 27418678
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15383276, 24867236
GO:0005737 Component Cytoplasm IEA
GO:0005813 Component Centrosome IBA 21873635
GO:0005813 Component Centrosome IDA 24867236
GO:0007052 Process Mitotic spindle organization IMP 24867236
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614634 29264 ENSG00000110318
Protein
UniProt ID Q9P2H0
Protein name Centrosomal protein of 126 kDa
Protein function Participates in cytokinesis (PubMed:19799413). Necessary for microtubules and mitotic spindle organization (PubMed:24867236). Involved in primary cilium formation (PubMed:24867236).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15352 K1377 105 1081 Susceptibility to monomelic amyotrophy Family
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary. {ECO:0000269|PubMed:10718198}.
Sequence
MLAGRPGTRSAVGELGTESSDNLDRAPLGPRESGGHHRPGSYLDMKIHLEKNLEEERQIL
LQQQKICRNRARKYFVESNRRKKAFEEKRKEQEEKEHQIREQILQQRKQKFEEVTEKFQR
AHVPLSQRRKAVSRKPVPPLEEALKQIQESNLKSEVNLPFSRRPTINWRAIDSALPSALS
KNDHKHQKQLLSKINCEKEMNENMRATLATSKNVFQLKLEETQKLLEDQHLSNLQKFGDE
VNQITNSETLSSIDSLEATEHEEIYLTLNKEHSTSIQRNTISLKPANMQSTNLSCFDEDK
LAFSKTQHINNWLTNLDASNTQNVTAFSDILSKSNVLPSWEYFNSKEQNPSPLNGTVERA
TNTANNSVPFVSSPPMFVLDKKCEKTSETSTMRTTDSTSGAFKRERPLVTESPTFKFSKS
QSTSDSLTQEVATFPDQEKYSELNQENGTTSIPTSCVPVATPLVLPSNIQSARPSAKNSI
HIKEIDAVQCSDKLDELKDGKEEEIKYFNCNKEELPLFSDSFQDAYIPHNPDSKDEKQKL
AETSSLSNVTSNYDFVGQHKKMKYNIHERNGVRFLKSILKKESKYEHGYLKALIINQSFK
FGNQKAAAIRDSIELTKEKGAEIPKTIKKLRWFDETSNIENNAENSHSLKNKTGTTQQHS
QQFHIQSGAGSNIISVSTCAVNSADTKKSREDSISENVTTLGGSGADHMPLNCFIPSGYN
FAKHAWPASKKEESKIPVHDDSKTKQGKPQRGRAKIIRKPGSAKVQSGFICTNRKGAVIQ
PQSASKVNIFTQAQGKLIIPCPPPQSTSNIRSGKNIQVSQCQPVTPENPQNIITHNSFNS
KHVLPTEHSLNQWNQESSSPLSNACSDLVTVIPSLPSYCSSECQTFAKINHSNGTQAVAR
QDATLYCTQRSPVCEESYPSVTLRTAEEESVPLWKRGPNVLHQNKRATGSTVMRRKRIAE
TKRRNILEQKRQNPGSVGQKYSEQINNFGQSVLLSSSEPKQTTRGTSYIEEVSDSTSEFL
MAENLVKASVPEDEILTVLNSKQIQKSNLPLNKTQQFNICTLSAEEQKILESLNDLSERL
H
YIQESICKNPSIKNTLQIIPLLEKREDRTSSCRDKR
Sequence length 1117
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Monomelic amyotrophy Amyotrophy, monomelic, Monomelic amyotrophy 22264561 ClinVar