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TRAPPC10

From Wikipedia, the free encyclopedia
TRAPPC10
Identifiers
AliasesTRAPPC10, EHOC-1, EHOC1, GT334, TMEM1, TRS130, TRS30, trafficking protein particle complex 10, trafficking protein particle complex subunit 10
External IDsOMIM: 602103; MGI: 1336209; HomoloGene: 37751; GeneCards: TRAPPC10; OMA:TRAPPC10 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001001723
NM_003274
NM_001351709

NM_001081055

RefSeq (protein)

NP_003265
NP_001338638

NP_001074524

Location (UCSC)Chr 21: 44.01 – 44.11 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

Trafficking protein particle complex subunit 10 is a protein that in humans is encoded by the TRAPPC10 gene.[4][5]

The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi.

Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. Two transcript variants encoding different isoforms have been found for this gene.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000160218Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ Yamakawa K, Mitchell S, Hubert R, Chen XN, Colbern S, Huo YK, Gadomski C, Kim UJ, Korenberg JR (Sep 1995). "Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3". Hum Mol Genet. 4 (4): 709–16. doi:10.1093/hmg/4.4.709. PMID 7633421.
  5. ^ a b "Entrez Gene: TMEM1 transmembrane protein 1".

Further reading

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