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Details of ERC1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| ERC1 | ELKS,KIAA1081,RAB6IP2 | Q8IUD2 | RB6I2_HUMAN | 23085
| ENSG00000082805
| ELKS/Rab6-interacting/CAST family member 1 | SPROT |
Disease |
|---|
| Disease |
OMIM id |
| 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(1012)(q11p13) involving RET. In vitro, isoform 1, isoform 3 and isoform 5 participating in a ERC1-RET fusion protein activate tyrosine-protein kinase activity. |
188550 |
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
| Erc1 | brp | elks-1 | Sp-Erc1 |
