ERC1

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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ELKS/RAB6-interacting/CAST family member 1 is a protein that in humans is encoded by the ERC1 gene.[1][2][3] The name ELKS is derived from "protein rich in the amino acids E, L, K and S"[4]

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.[3] ELKS has been reported to direct vesicles with RAB6A to melanosomes.[4]

Interactions

ERC1 has been shown to interact with RAB6A.[2]

References

  1. 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.
  2. 2.0 2.1 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.
  3. 3.0 3.1 "Entrez Gene: ERC1 ELKS/RAB6-interacting/CAST family member 1".
  4. 4.0 4.1 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