ERC1 (ELKS/RAB6-interacting/CAST family member 1)
Gene | |
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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23085 |
Gene name
Gene Name - the full gene name approved by the HGNC.
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ELKS/RAB6-interacting/CAST family member 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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ERC1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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Cast2, ELKS, ERC-1, RAB6IP2 |
Chromosome
Chromosome number
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12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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12p13.33 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein | ||||||||||||||||
UniProt ID | Q8IUD2 | |||||||||||||||
Protein name | ELKS/Rab6-interacting/CAST family member 1 (ERC-1) (Rab6-interacting protein 2) | |||||||||||||||
Protein function | Regulatory subunit of the IKK complex. Probably recruits IkappaBalpha/NFKBIA to the complex. May be involved in the organization of the cytomatrix at the nerve terminals active zone (CAZ) which regulates neurotransmitter release. May be involved | |||||||||||||||
Family and domains |
Pfam
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Tissue specificity | TISSUE SPECIFICITY: Widely expressed. Isoform 2 and isoform 4 are abundantly expressed in brain. Isoform 1 and isoform 3 are predominantly expressed in testis and thyroid, and isoform 1 predominates in other tissues tested. {ECO:0000269|PubMed:12203787}. | |||||||||||||||
Sequence | ||||||||||||||||
Sequence length | 1116 | |||||||||||||||
Interactions | View interactions |
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease information provided by ClinVar, GenCC, and GWAS databases.
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