ERC1

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]

Full Name

ELKS/RAB6-Interacting/CAST Family Member 1

Research Area

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.

Biological Process

I-kappaB phosphorylation Source: UniProtKB
Maintenance of presynaptic active zone structure Source: GO_Central
Multicellular organism development Source: UniProtKB
Negative regulation of apoptotic process Source: UniProtKB
Neuromuscular synaptic transmission Source: GO_Central
Positive regulation of NF-kappaB transcription factor activity Source: UniProtKB
Protein transport Source: UniProtKB-KW
Regulation of synaptic plasticity Source: GO_Central
Regulation of transcription, DNA-templated Source: UniProtKB
Retrograde transport, endosome to Golgi Source: ParkinsonsUK-UCL

Cellular Location

Golgi apparatus membrane; Centrosome; Presynaptic cell membrane; Cytoplasm; Membrane. Recruited on Golgi membranes by RAB6A in a GTP-dependent manner (By similarity).

Involvement in disease

A chromosomal aberration involving ERC1/RAB6IP2 is found in papillary thyroid carcinomas (PTCs). Translocation t(10;12)(q11;p13) involving RET. In vitro, isoform 1, isoform 3 and isoform 5 participating in a ERC1-RET fusion protein activate tyrosine-protein kinase activity.