InnateDB Protein
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IDBP-11689.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ERC1
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Protein Name
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ELKS/RAB6-interacting/CAST family member 1
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Synonyms
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Cast2; ELKS; ERC-1; RAB6IP2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000340054
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InnateDB Gene
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IDBG-11681 (ERC1)
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Protein Structure
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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}.
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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}.
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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.
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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}.
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Comments |
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Number of Interactions
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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.
Experimentally validated |
Total |
36
[view]
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Protein-Protein |
36
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
3 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR009053
Prefoldin
IPR019323
CAZ complex, RIM-binding protein
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PFAM |
PF10174
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8IUD2
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PhosphoSite |
PhosphoSite-Q8IUD2
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TrEMBL |
K7EPP6
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UniProt Splice Variant |
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Entrez Gene |
23085
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UniGene |
Hs.704234
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RefSeq |
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HUGO |
HGNC:17072
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OMIM |
607127
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CCDS |
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HPRD |
06181
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IMGT |
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EMBL |
AB015617
AB029004
AB053468
AB053469
AB053470
AB053471
AC004671
AC004672
AC004802
AC004803
AC004804
AC006561
AC092469
AK000148
AK092201
BC068006
BC132782
BC132784
BC150248
CH471116
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GenPept |
AAH68006
AAI32783
AAI32785
AAI50249
BAA83033
BAA88763
BAA90975
BAC03827
BAC54107
BAC54108
BAC54109
BAC54110
EAW88932
EAW88934
EAW88936
EAW88938
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