ERC1
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 in vesicle trafficking at the CAZ. May be involved in Rab-6 regulated endosomes to Golgi transport.
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.
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.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Cytoplasm
- Membrane
- Peripheral membrane protein
- Golgi apparatus membrane
- Peripheral membrane protein
- Presynaptic cell membrane
- Cell projection
- Podosome
- Recruited on Golgi membranes by RAB6A in a GTP-dependent manner (By similarity). Localized to the cortex of myotube podosomes (By similarity).
Alternative names
ELKS, KIAA1081, RAB6IP2, ERC1, ELKS/Rab6-interacting/CAST family member 1, ERC-1, Rab6-interacting protein 2