TMED10

Last updated

TMED10
Identifiers
Aliases TMED10 , P24(DELTA), S31I125, S31III125, TMP21, Tmp-21-I, p23, p24d1, transmembrane p24 trafficking protein 10
External IDs OMIM: 605406; MGI: 3782198; HomoloGene: 4972; GeneCards: TMED10; OMA:TMED10 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006827

XM_036158265

RefSeq (protein)

NP_006818

n/a

Location (UCSC) Chr 14: 75.13 – 75.18 Mb n/a
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane emp24 domain-containing protein 10 is a protein that in humans is encoded by the TMED10 gene. [4] [5] [6]

This gene is a member of the EMP24/GP25L/p24 family and encodes a protein with a GOLD domain. This type I membrane protein is localized to the plasma membrane and golgi cisternae and is involved in vesicular protein trafficking. The protein is also a member of a heteromeric secretase complex and regulates the complex's gamma-secretase activity without affecting its epsilon-secretase activity. Mutations in this gene have been associated with early-onset familial Alzheimer's disease. This gene has a pseudogene on chromosome 8. [6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000170348 Ensembl, 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. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, et al. (Aug 1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease". Nature. 375 (6534): 754–60. doi:10.1038/375754a0. PMID   7596406. S2CID   4308372.
  5. Blum R, Feick P, Puype M, Vandekerckhove J, Klengel R, Nastainczyk W, Schulz I (Sep 1996). "Tmp21 and p24A, two type I proteins enriched in pancreatic microsomal membranes, are members of a protein family involved in vesicular trafficking". J Biol Chem. 271 (29): 17183–9. doi: 10.1074/jbc.271.29.17183 . PMID   8663407.
  6. 1 2 "Entrez Gene: TMED10 transmembrane emp24-like trafficking protein 10 (yeast)".

Further reading