KIAA1377

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KIAA1377
Identifiers
Symbol KIAA1377
External IDs OMIM614634 MGI2680221 HomoloGene28313 GeneCards: KIAA1377 Gene
RNA expression pattern
PBB GE KIAA1377 gnf1h08866 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 57562 234915
Ensembl ENSG00000110318 ENSMUSG00000040729
UniProt Q9P2H0 Q0VBV7
RefSeq (mRNA) NM_020802 NM_001045524
RefSeq (protein) NP_065853 NP_001038989
Location (UCSC) Chr 11:
101.79 – 101.87 Mb
Chr 9:
8.08 – 8.13 Mb
PubMed search [1] [2]

Uncharacterized protein KIAA1377 is a protein that in humans is encoded by the KIAA1377 gene.[1][2] 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.[3]

Clinical relevance[edit]

Mutations in this gene have been found to cause monomelic amyotrophy.[4]

References[edit]

  1. ^ 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. 
  2. ^ "Entrez Gene: KIAA1377 KIAA1377". 
  3. ^ 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. doi:10.1111/boc.201300087. PMID 24867236. 
  4. ^ 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 : NMD 22 (5): 394–400. doi:10.1016/j.nmd.2011.11.006. PMID 22264561. 

Further reading[edit]