KIAA1377

CEP126
Identifiers
Aliases	CEP126, KIAA1377, centrosomal protein 126
External IDs	OMIM: 614634; MGI: 2680221; HomoloGene: 28313; GeneCards: CEP126; OMA:CEP126 - orthologs
Gene location (Human) Chr. Chromosome 11 (human) Band 11q22.1 Start 101,915,010 bp End 102,001,062 bp
Gene location (Mouse) Chr. Chromosome 9 (mouse) Band 9|9 A1 Start 8,076,461 bp End 8,134,294 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in bronchial epithelial cell Brodmann area 23 mucosa of paranasal sinus middle temporal gyrus buccal mucosa cell right uterine tube endothelial cell entorhinal cortex tibia postcentral gyrus Top expressed in spermatid spermatocyte seminiferous tubule choroidal fissure tail of embryo respiratory epithelium olfactory epithelium genital tubercle neural layer of retina cerebellar cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding Cellular component cytoplasm microtubule organizing center centrosome cell projection cytoskeleton ciliary base midbody Biological process mitotic spindle organization cell projection organization cytoplasmic microtubule organization cilium assembly non-motile cilium assembly Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57562 234915 Ensembl ENSG00000110318 ENSMUSG00000040729 UniProt Q9P2H0 Q0VBV7 RefSeq (mRNA) NM_020802 NM_001363543 NM_001045524 NM_001368148 RefSeq (protein) NP_065853 NP_001350472 NP_001038989 NP_001355077 Location (UCSC) Chr 11: 101.92 – 102 Mb Chr 9: 8.08 – 8.13 Mb PubMed search
Wikidata
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Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene. Also known as Cep126, the protein has been shown to localize to the centrosome. Furthermore, it is found at pericentriolar satellites and the base of the primary cilium. Depleting Cep126 leads to dispersion of pericentriolar satellites, in turn disrupting microtubule organization at the mitotic spindle.

Clinical relevance

Mutations in this gene have been found to cause monomelic amyotrophy.

Further reading

• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Mol. Vis. 8: 196–204. PMID 12107411.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Morris JA, Kandpal G, Ma L, Austin CP (2004). "DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation". Hum. Mol. Genet. 12 (13): 1591–608. doi:10.1093/hmg/ddg162. PMID 12812986.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
• Goehler H, Lalowski M, Stelzl U, et al. (2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Mol. Cell. 15 (6): 853–65. doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
• Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. PMID 16169070.