KIAA1377

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CEP126
Identifiers
AliasesCEP126, KIAA1377, centrosomal protein 126
External IDsOMIM: 614634 MGI: 2680221 HomoloGene: 28313 GeneCards: CEP126
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for CEP126
Genomic location for CEP126
Band11q22.1Start101,915,010 bp[1]
End102,001,062 bp[1]
RNA expression pattern
PBB GE KIAA1377 gnf1h08866 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 9: 8.08 – 8.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

Clinical relevance[edit]

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

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000110318 - Ensembl, May 2017
  2. ^ a b c 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: 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[edit]