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ELKS/RAB6-interacting/CAST family member 1 (RAB6-interacting protein 2, ERC protein 1, ERC1, ELKS, KIAA1081, RAB6IP2)
Function:
1) regulatory subunit of the IKK complex
2) recruits NFKBIA to IKK complex (putative)
3) role in organization of cytomatrix at nerve terminals active zone (CAZ) which regulates neurotransmitter release
4) role in vesicle trafficking at the CAZ
5) role in Rab-6 regulated endosomes to Golgi transport
6) componenet of a complex with CHUK, IKBKB & IKBKG
7) interacts with CHUK, IKBKB & IKBKG
8) interacts with NFKBIA
9) isoform 4 interacts with PPFIA1, & through its C-terminus with PDZ domains of RIMS1 & RIMS2
10) interacts with ERC2/CAST1
11) interacts with the GTP-bound forms of RAB6A (isoforms 1 & 2) & with RAB6B, RAB6B > RAB6A (isoform 2) > RAB6A (isoform 1)
Compartment:
- cytoplasm, peripheral membrane, Golgi membrane
- in neurons, localized close to presynaptic membrane
- recruited on Golgi membranes by RAB6A (GTP-dependent)
Alternative splicing: named isoforms=5
Expression:
- widely expressed
- isoforms 2 & 4 are abundantly expressed in brai
- isoform 1 & 3 are predominantly expressed in testis & thyroid
- isoform 1 predominates in other tissues
Pathology:
- chromosomal translocation t(10;12)(q11;p13) involving ERC1 & RET may be a cause of thyroid papillary carcinoma
- ERC1-RET fusion protein activates tyrosine-protein kinase activity
General
phosphoprotein
Properties
SIZE: MW = 128 kD
entity length = 1116 aa
COMPARTMENT: cytoplasm
golgi
MOTIF: Ser phosphorylation site {S17}
Ser phosphorylation site {S21}
coiled coil {144-988}
MOTIF: breakpoint {719-720}
coiled coil {1060-1100}
Database Correlations
OMIM correlations
UniProt Q8IUD2
References
- UniProt :accession Q8IUD2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/ELKSID503.html