ERC1

ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene.[5][6][7] The name ELKS is derived from "protein rich in the amino acids E, L, K and S"[8]

ERC1
Identifiers
AliasesERC1, Cast2, ELKS, ERC-1, RAB6IP2, ELKS/RAB6-interacting/CAST family member 1
External IDsOMIM: 607127 MGI: 2151013 HomoloGene: 14229 GeneCards: ERC1
Gene location (Human)
Chr.Chromosome 12 (human)[1]
Band12p13.33Start990,509 bp[1]
End1,495,933 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

23085

111173

Ensembl

ENSG00000082805

ENSMUSG00000030172

UniProt

Q8IUD2

Q99MI1

RefSeq (mRNA)

NM_001301248
NM_178039
NM_178040

NM_053204
NM_178085

RefSeq (protein)

NP_001288177
NP_829883
NP_829884

NP_444434
NP_835186

Location (UCSC)Chr 12: 0.99 – 1.5 MbChr 6: 119.57 – 119.85 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

The protein encoded by this gene is a member of a family of RIM-binding proteins. RIMs are active zone proteins that regulate neurotransmitter release. This gene has been found fused to the receptor-type tyrosine kinase gene RET by gene rearrangement due to the translocation t(10;12)(q11;p13). Multiple transcript variants encoding different isoforms have been found for this gene.[7] ELKS has been reported to direct vesicles with RAB6A to melanosomes.[8]

Interactions

ERC1 has been shown to interact with RAB6A.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000082805 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000030172 - 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. Yokota T, Nakata T, Minami S, Inazawa J, Emi M (Apr 2000). "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma". J Hum Genet. 45 (1): 6–11. doi:10.1007/s100380050002. PMID 10697956.
  6. Monier S, Jollivet F, Janoueix-Lerosey I, Johannes L, Goud B (Apr 2002). "Characterization of novel Rab6-interacting proteins involved in endosome-to-TGN transport". Traffic. 3 (4): 289–97. doi:10.1034/j.1600-0854.2002.030406.x. PMID 11929610. S2CID 22993226.
  7. "Entrez Gene: ERC1 ELKS/RAB6-interacting/CAST family member 1".
  8. Patwardhan A, Bardin S, Miserey-Lenkei S, Larue L, Goud B, Raposo G, Delevoye C (2017). "Routing of the RAB6 secretory pathway towards the lysosome related organelle of melanocytes". Nature Communications. 8: 15835. doi:10.1038/ncomms15835. PMC 5474736. PMID 28607494.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.