Homo sapiens Protein: ERC1 | |||||||||||||||||||||||
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Summary | |||||||||||||||||||||||
InnateDB Protein | IDBP-598300.3 | ||||||||||||||||||||||
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 | ENSP00000442739 | ||||||||||||||||||||||
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.
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR009053
Prefoldin IPR019018 Rab-binding domain FIP-RBD IPR019323 CAZ complex, RIM-binding protein |
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PFAM |
PF09457
PF10174 |
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PRINTS | |||||||||||||||||||||||
PIRSF | |||||||||||||||||||||||
SMART | |||||||||||||||||||||||
TIGRFAMs | |||||||||||||||||||||||
Post-translational Modifications | |||||||||||||||||||||||
Modification | |||||||||||||||||||||||
Cross-References | |||||||||||||||||||||||
SwissProt | |||||||||||||||||||||||
PhosphoSite | PhosphoSite-Q8IUD2 | ||||||||||||||||||||||
TrEMBL | X6RLX0 | ||||||||||||||||||||||
UniProt Splice Variant | |||||||||||||||||||||||
Entrez Gene | 23085 | ||||||||||||||||||||||
UniGene | Hs.704234 | ||||||||||||||||||||||
RefSeq | |||||||||||||||||||||||
HUGO | HGNC:17072 | ||||||||||||||||||||||
OMIM | 607127 | ||||||||||||||||||||||
CCDS | |||||||||||||||||||||||
HPRD | 06181 | ||||||||||||||||||||||
IMGT | |||||||||||||||||||||||
EMBL | AC004671 AC004672 AC004802 AC004803 AC004804 AC006561 AC092469 | ||||||||||||||||||||||
GenPept | |||||||||||||||||||||||