ELKS/RAB6-interacting/CAST family member 1 (RAB6-interacting protein 2, ERC protein 1, ERC1, ELKS, KIAA1081, RAB6IP2)

Function

• regulatory subunit of the IKK complex
• recruits NFKBIA to IKK complex (putative)
• role in organization of cytomatrix at nerve terminals active zone (CAZ) which regulates neurotransmitter release
• role in vesicle trafficking at the CAZ
• role in Rab-6 regulated endosomes to Golgi transport
• componenet of a complex with CHUK, IKBKB & IKBKG
• interacts with CHUK, IKBKB & IKBKG
• interacts with NFKBIA
• isoform 4 interacts with PPFIA1, & through its C-terminus with PDZ domains of RIMS1 & RIMS2
• interacts with ERC2/CAST1
• 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

More general terms

• phosphoprotein

Component of

• IkB kinase complex

Database

• OMIM: https://mirror.omim.org/entry/188550
• OMIM: https://mirror.omim.org/entry/607127
• UniProt: http://www.uniprot.org/uniprot/Q8IUD2.html