InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RNF139

Summary

InnateDB Protein

IDBP-34975.6

Last Modified

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

Gene Symbol

RNF139

Protein Name

ring finger protein 139

Synonyms

HRCA1; RCA1; TRC8;

Species

Homo sapiens

Ensembl Protein

ENSP00000304051

InnateDB Gene

IDBG-34973 (RNF139)

Protein Structure

UniProt Annotation

Function

E3-ubiquitin ligase; acts as a negative regulator of the cell proliferation through mechanisms involving G2/M arrest and cell death. Required for MHC class I ubiquitination in cells expressing the cytomegalovirus protein US2 before dislocation from the endoplasmic reticulum (ER). Affects SREBP processing by hindering the SREBP/SCAP complex translocation from the ER to the Golgi, thereby reducing SREBF2 target gene expression. Required for INSIG1 ubiquitination. May be required for EIF3 complex ubiquitination. May function as a signaling receptor. {ECO:0000269PubMed:10500182, ECO:0000269PubMed:12032852, ECO:0000269PubMed:17016439, ECO:0000269PubMed:19706601, ECO:0000269PubMed:19720873, ECO:0000269PubMed:20068067}.

Subcellular Localization

Endoplasmic reticulum membrane {ECO:0000269PubMed:12032852}; Multi-pass membrane protein {ECO:0000269PubMed:12032852}.

Disease Associations

Renal cell carcinoma (RCC) [MIM:144700]: Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. Note=The disease may be caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving RNF139 has been found in a lymphoblastoid cell line established from a family with renal cell carcinoma and thyroid carcinoma. Translocation (3;8)(q14.2;q24.1) with FHIT. RNF139 is found to be fused to FHIT and disrupted within the sterol-sensing domain. In contrast, the FHIT coding region is maintained and expressed. Sporadic cases of renal carcinoma, where an acquired mutation in RNF139 results in the duplication of 12 nucleotides in the 5'-UTR, has also been identified.

Tissue Specificity

Highly expressed in testis, placenta and adrenal gland. Moderate expression in heart, brain, liver, skeletal muscle and pancreas, and low expression in lung and kidney. {ECO:0000269PubMed:9689122}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 20 experimentally validated interaction(s) in this database.

Experimentally validated
Total	20 [view]
Protein-Protein	19 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004842	ubiquitin-protein transferase activity
GO:0004872	receptor activity
GO:0005515	protein binding
GO:0008270	zinc ion binding
GO:0016874	ligase activity
GO:0019787	small conjugating protein ligase activity
GO:0046872	metal ion binding

Biological Process

GO:0008285	negative regulation of cell proliferation
GO:0016567	protein ubiquitination
GO:0017148	negative regulation of translation
GO:0031396	regulation of protein ubiquitination
GO:0060628	regulation of ER to Golgi vesicle-mediated transport
GO:0070613	regulation of protein processing