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]

AliasesERC1, Cast2, ELKS, ERC-1, RAB6IP2, ELKS/RAB6-interacting/CAST family member 1

External IDsOMIM: 607127; MGI: 2151013; HomoloGene: 14229; GeneCards: ERC1; OMA:ERC1 - orthologs

Chr.Chromosome 12 (human)^[1]

End1,495,933 bp^[1]

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ERC1
Identifiers
Aliases	ERC1, Cast2, ELKS, ERC-1, RAB6IP2, ELKS/RAB6-interacting/CAST family member 1
External IDs	OMIM: 607127; MGI: 2151013; HomoloGene: 14229; GeneCards: ERC1; OMA:ERC1 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p13.33 Start 990,509 bp[1] End 1,495,933 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 F1 Start 119,570,796 bp[2] End 119,848,167 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sural nerve epithelium of colon Achilles tendon testicle cerebellar vermis saphenous vein stromal cell of endometrium ganglionic eminence cerebellar hemisphere corpus callosum Top expressed in genital tubercle tail of embryo lumbar spinal ganglion zygote dentate gyrus of hippocampal formation granule cell Rostral migratory stream cumulus cell stria vascularis cerebellum tibiofemoral joint More reference expression data BioGPS More reference expression data
Gene ontology Molecular function leucine zipper domain binding protein binding PDZ domain binding cadherin binding Cellular component cytoplasm presynaptic active zone Golgi membrane Golgi apparatus synapse IkappaB kinase complex presynaptic membrane membrane centrosome ciliary basal body microtubule organizing center cytoskeleton Biological process multicellular organism development protein transport retrograde transport, endosome to Golgi regulation of transcription, DNA-templated I-kappaB phosphorylation positive regulation of NF-kappaB transcription factor activity negative regulation of apoptotic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 6: 119.57 – 119.85 Mb PubMed search [3] [4]
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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]