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.
Gene References into Functions
- The results indicate that liprin-alpha1, LL5 and ERC1 define a novel dynamic membrane-less compartment that regulates matrix degradation by affecting invadosome motility. PMID: 29348417
- ELKS removal has differential, synapse-specific effects on readily releasable vesicles and probability of release, and findings establish important roles for ELKS N-terminal domains in synaptic vesicle priming. PMID: 27253063
- Liprin-alpha1, ERC1a and LL5 also define new highly polarized and dynamic cytoplasmic structures uniquely localized near the protruding cell edge PMID: 24982445
- a new, but rare, antigen in Lambert-Eaton myasthenic syndrome PMID: 23583364
- ATM- and NEMO-dependent ubiquitination of ELKS leads to the ubiquitin-dependent assembly of TAK1/TAB2/3 and NEMO/IKK complexes, resulting in IKK and NF-kappaB activation following genotoxic stimuli. PMID: 20932476
- Analysis of the gene structure of four isoforms (ELKS beta, ELKS gamma, ELKS delta, and ELKS epsilon) in a case of papillary thyroid carcinoma reveal that the isoforms are produced by alternative splicing. PMID: 12203787
- In vitro results indicate that ERC2/CAST, an active zone-specific isoform, interacts with all of the known isoforms of liprin-alpha and that liprin-alpha1 associates with both ERC2 and ERC1b PMID: 12923177
- ELKS likely functions by recruiting IkappaBalpha to the IkappaB kinase (IKK) complex and thus serves a regulatory function for IKK activation PMID: 15218148
- ERC1-PDGFRB fusion is associated with acute myeloid leukemia PMID: 17690697
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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.
Subcellular Location
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Membrane; Peripheral membrane protein. Golgi apparatus membrane; Peripheral membrane protein. Cell junction, synapse, presynaptic cell membrane.
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.