• Gene id: 57562

Gene Summary

• Gene Symbol: CEP126   Gene   UCSC   Ensembl
• Aliases: KIAA1377
• Gene name: centrosomal protein 126
• Alternate names: centrosomal protein of 126 kDa, centrosomal protein 126kDa,
• Gene location: 11q22.1 (101915009: 102001061)     Exons: 12     NC_000011.10
• OMIM: 600391

Protein Summary

• Protein general information: Q9P2H0  
  • Name: Centrosomal protein of 126 kDa
  • Length: 1117  
  • Mass: 125870
  • Tissue specificity: Expressed in brain, lung, skeletal muscle, kidney, pancreas, testis and ovary. {ECO
• Sequence:

  MLAGRPGTRSAVGELGTESSDNLDRAPLGPRESGGHHRPGSYLDMKIHLEKNLEEERQILLQQQKICRNRARKYF
  VESNRRKKAFEEKRKEQEEKEHQIREQILQQRKQKFEEVTEKFQRAHVPLSQRRKAVSRKPVPPLEEALKQIQES
  NLKSEVNLPFSRRPTINWRAIDSALPSALSKNDHKHQKQLLSKINCEKEMNENMRATLATSKNVFQLKLEETQKL
  LEDQHLSNLQKFGDEVNQITNSETLSSIDSLEATEHEEIYLTLNKEHSTSIQRNTISLKPANMQSTNLSCFDEDK
  LAFSKTQHINNWLTNLDASNTQNVTAFSDILSKSNVLPSWEYFNSKEQNPSPLNGTVERATNTANNSVPFVSSPP
  MFVLDKKCEKTSETSTMRTTDSTSGAFKRERPLVTESPTFKFSKSQSTSDSLTQEVATFPDQEKYSELNQENGTT
  SIPTSCVPVATPLVLPSNIQSARPSAKNSIHIKEIDAVQCSDKLDELKDGKEEEIKYFNCNKEELPLFSDSFQDA
  YIPHNPDSKDEKQKLAETSSLSNVTSNYDFVGQHKKMKYNIHERNGVRFLKSILKKESKYEHGYLKALIINQSFK
  FGNQKAAAIRDSIELTKEKGAEIPKTIKKLRWFDETSNIENNAENSHSLKNKTGTTQQHSQQFHIQSGAGSNIIS
  VSTCAVNSADTKKSREDSISENVTTLGGSGADHMPLNCFIPSGYNFAKHAWPASKKEESKIPVHDDSKTKQGKPQ
  RGRAKIIRKPGSAKVQSGFICTNRKGAVIQPQSASKVNIFTQAQGKLIIPCPPPQSTSNIRSGKNIQVSQCQPVT
  PENPQNIITHNSFNSKHVLPTEHSLNQWNQESSSPLSNACSDLVTVIPSLPSYCSSECQTFAKINHSNGTQAVAR
  QDATLYCTQRSPVCEESYPSVTLRTAEEESVPLWKRGPNVLHQNKRATGSTVMRRKRIAETKRRNILEQKRQNPG
  SVGQKYSEQINNFGQSVLLSSSEPKQTTRGTSYIEEVSDSTSEFLMAENLVKASVPEDEILTVLNSKQIQKSNLP
  LNKTQQFNICTLSAEEQKILESLNDLSERLHYIQESICKNPSIKNTLQIIPLLEKREDRTSSCRDKR

• Structural information:
  • Interpro: IPR028257  
  • STRING: ENSP00000263468
• Other Databases: GeneCards:  CEP126  Malacards:  CEP126

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030496	midbody	IBA	cellular component
GO:0005813	centrosome	IBA	cellular component
GO:0031122	cytoplasmic microtubule organization	IBA	biological process
GO:0060271	cilium assembly	IBA	biological process
GO:0097546	ciliary base	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0097546	ciliary base	IDA	cellular component
GO:0060271	cilium assembly	IMP	biological process
GO:0007052	mitotic spindle organization	IMP	biological process
GO:0031122	cytoplasmic microtubule organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0007052	mitotic spindle organization	IEA	biological process
GO:0031122	cytoplasmic microtubule organization	IEA	biological process
GO:0097546	ciliary base	IEA	cellular component
GO:1905515	non-motile cilium assembly	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0030496	midbody	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq