InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ERC1

Summary

InnateDB Protein

IDBP-601117.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ERC1

Protein Name

ELKS/RAB6-interacting/CAST family member 1

Synonyms

Cast2; ELKS; ERC-1; RAB6IP2;

Species

Homo sapiens

Ensembl Protein

ENSP00000445336

InnateDB Gene

IDBG-11681 (ERC1)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15218148}.

Subcellular Localization

Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=In neurons, localized closed to presynaptic membrane. Recruited on Golgi membranes by RAB6A in a GTP-dependent manner (By similarity). {ECO:0000250}.

Disease Associations

Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving ERC1/RAB6IP2 is found in cause of thyroid papillary carcinomas. 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. {ECO:0000269PubMed:12203787}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 36 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.