KIAA1377

Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene.[5][6] 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.[7]

CEP126
Identifiers
Aliases	CEP126, KIAA1377, centrosomal protein 126
External IDs	OMIM: 614634 MGI: 2680221 HomoloGene: 28313 GeneCards: CEP126
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q22.1 Start 101,915,010 bp[1] End 102,001,062 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A1 Start 8,076,461 bp[2] End 8,134,294 bp[2]
RNA expression pattern More reference expression data
Gene ontology Molecular function • GO:0001948 protein binding Cellular component • cytoplasm • microtubule organizing center • centrosome • cell projection • cytoskeleton • ciliary base • midbody Biological process • GO:0043148 mitotic spindle organization • cell projection organization • cytoplasmic microtubule organization • cilium morphogenesis • 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	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

Clinical relevance

Mutations in this gene have been found to cause monomelic amyotrophy.[8]

References

1. GRCh38: Ensembl release 89: ENSG00000110318 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000040729 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (Apr 2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
6. "Entrez Gene: KIAA1377 KIAA1377".
7. Bonavita R, Walas D, Townley AK, Luini A, Stephens DJ, Colanzi A (May 27, 2014). "Cep126 is required for pericentriolar satellite localisation to the centrosome and for primary cilium formation". Biology of the Cell. 106 (8): 254–267. doi:10.1111/boc.201300087. PMC 4293463. PMID 24867236.
8. Lim YM, Koh I, Park YM, Kim JJ, Kim DS, Kim HJ, Baik KH, Choi HY, Yang GS, Also-Rallo E, Tizzano EF, Gamez J, Park K, Yoo HW, Lee JK, Kim KK (Jan 18, 2012). "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy". Neuromuscular Disorders. 22 (5): 394–400. doi:10.1016/j.nmd.2011.11.006. PMID 22264561.

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. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070.