KIAA1377

Last updated
CEP126
Identifiers
Aliases CEP126 , KIAA1377, centrosomal protein 126
External IDs OMIM: 614634 MGI: 2680221 HomoloGene: 28313 GeneCards: CEP126
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 Mb Chr 9: 8.08 – 8.13 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

Clinical relevance

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

Related Research Articles

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<span class="mw-page-title-main">PCNT</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">CEP350</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">CEP250</span> Protein-coding gene in the species Homo sapiens

Centrosome-associated protein CEP250 is a protein that in humans is encoded by the CEP250 gene. This gene encodes a core centrosomal protein required for centriole-centriole cohesion during interphase of the cell cycle. The encoded protein dissociates from the centrosomes when parental centrioles separate at the beginning of mitosis. The protein associates with and is phosphorylated by NIMA-related kinase 2, which is also associated with the centrosome. Furthermore, CEP135 is also required for the centriolar localization of CEP250.

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Centrosomal protein 170kDa, also known as CEP170, is a protein that in humans is encoded by the CEP170 gene.

<span class="mw-page-title-main">CEP68</span> Protein-coding gene in the species Homo sapiens

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Centrosomal protein of 135 kDa is a protein that in humans is encoded by the CEP135 gene. It is part of the centrosome throughout the cell cycle, being distributed in the pericentriolar material. CEP135 is required for the centriolar localization of CEP250.

<span class="mw-page-title-main">Rootletin</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">CEP164</span> Protein-coding gene in the species Homo sapiens

Centrosomal protein of 164 kDa, also known as CEP164, is a protein that in humans is encoded by the CEP164 gene. Its function appears two be twofold: CEP164 is required for primary cilium formation. Furthermore, it is an important component in the response to DNA damage by UV light.

<span class="mw-page-title-main">CEP76</span> Protein-coding gene in the species Homo sapiens

Centrosomal protein of 76 kDa, also known as CEP76, is a protein that in humans is encoded by the CEP76 gene.

<span class="mw-page-title-main">CEP152</span> Protein-coding gene in the species Homo sapiens

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000110318 - Ensembl, May 2017
  2. 1 2 3 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. S2CID   41086322.

Further reading