Aliases for ERC1 Gene
External Ids for ERC1 Gene
Previous HGNC Symbols for ERC1 Gene
Previous GeneCards Identifiers for ERC1 Gene
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) in thyroid papillary carcinoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
GeneCards Summary for ERC1 Gene
ERC1 (ELKS/RAB6-Interacting/CAST Family Member 1) is a Protein Coding gene. Diseases associated with ERC1 include Differentiated Thyroid Carcinoma and Distal Monosomy 12P. Among its related pathways are IL-1 signaling pathway and NF-kappa B signaling pathway. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and leucine zipper domain binding. An important paralog of this gene is ERC2.
UniProtKB/Swiss-Prot Summary for ERC1 Gene
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 in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.