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Coiled-coil domain containing 115

From Wikipedia, the free encyclopedia
CCDC115
Identifiers
AliasesCCDC115, ccp1, CDG2O, coiled-coil domain containing 115
External IDsOMIM: 613734; MGI: 1916918; HomoloGene: 13015; GeneCards: CCDC115; OMA:CCDC115 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032357
NM_001321118
NM_001321119

NM_027159

RefSeq (protein)

NP_001308047
NP_001308048
NP_115733

NP_081435

Location (UCSC)Chr 2: 130.34 – 130.34 MbChr 1: 34.48 – 34.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Coiled-coil domain containing 115 is a protein that in humans is encoded by the CCDC115 gene. [5]

Function

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The protein encoded by this gene has been observed to localize to the endoplasmic reticulum (ER)-Golgi intermediate compartment (ERGIC) and coat protein complex I (COPI) vesicles in some human cells. The encoded protein shares some homology with the yeast V-ATPase assembly factor Vma22p, and the orthologous protein in mouse promotes cell proliferation and suppresses cell death. Defects in this gene are a cause of congenital disorder of glycosylation, type IIo in humans. [provided by RefSeq, Mar 2016].

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136710Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042111Ensembl, 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. ^ "Entrez Gene: Coiled-coil domain containing 115". Retrieved 2017-12-27.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.