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Protein-coding gene in the species Homo sapiens

ERC1

ERC1
All data from the card 17
Aliases
ERC1, Cast2, ELKS, ERC-1, RAB6IP2, ELKS/RAB6-interacting/CAST family member 1
External IDs
OMIM: 607127; MGI: 2151013; GeneCards: ERC1
Chr.
Chromosome 12 (human)
Band
12p13.33
End
1,495,933 bp
Chr.
Chromosome 6 (mouse)
Band
6|6 F1
End
119,848,167 bp
BioGPS
More reference expression data
Databases
NCBI: entry; OMA: entry
Species
Human
Entrez
23085
Ensembl
ENSG00000082805
UniProt
Q8IUD2
RefSeq (mRNA)
NM_001301248NM_178039NM_178040
RefSeq (protein)
NP_001288177NP_829883NP_829884
Location (UCSC)
Chr 12: 0.99 – 1.5 Mb

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

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. ELKS has been reported to direct vesicles with RAB6A to melanosomes.

Interactions

ERC1 has been shown to interact with RAB6A.

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Text from Wikipedia, CC BY-SA 4.0 · Source article