1. Gene
  2. RNF139 - ring finger protein 139 Gene

RNF139 - ring finger protein 139 Gene

Homo sapiens

Also known as RCA1; TRC8; HRCA1

Gene ID: 11236 | Gene type: protein coding

About RNF139

Cytogenetic location: 8q24.13 Genomic coordinates (GRCh38): 8:124,474,880-124,488,618 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 33.6), testis (RPKM 25.9) and 25 other tissues.

Summary

The protein encoded by this gene is a multi-membrane spanning protein containing a RING-H2 finger. This protein is located in the endoplasmic reticulum, and has been shown to possess ubiquitin Ligase activity. This gene was found to be interrupted by a t(3:8) translocation in a family with hereditary renal and non-medulary thyroid Cancer. Studies of the Drosophila counterpart suggested that this protein may interact with tumor suppressor protein VHL, as well as with COPS5/JAB1, a protein responsible for the degradation of tumor suppressor CDKN1B/P27KIP. [provided by RefSeq, Jul 2008]

RNF139 Products(1)

mRNA Protein Name
NM_007218.4 NP_009149.2 E3 ubiquitin-protein ligase RNF139
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protease binding IPI
IPI: Inferred from physical interaction
25239945 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12032852 GOA
enables ubiquitin protein ligase activity IDA
IDA: Inferred from direct assay
10500182 GOA
enables ubiquitin-like protein transferase activity IDA
IDA: Inferred from direct assay
17016439 GOA
enables ubiquitin-protein transferase activity IDA
IDA: Inferred from direct assay
17016439 GOA
enables ubiquitin-protein transferase activity IMP
IMP: Inferred from mutant phenotype
19720873 GOA
Biological Process GO Annotation Evidence Reference Source
involved in ERAD pathway IMP
IMP: Inferred from mutant phenotype
25239945 GOA
involved in negative regulation of cell population proliferation IDA
IDA: Inferred from direct assay
17016439 GOA
involved in negative regulation of translation IDA
IDA: Inferred from direct assay
20068067 GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process IMP
IMP: Inferred from mutant phenotype
25239945 GOA
involved in protein destabilization IMP
IMP: Inferred from mutant phenotype
25239945 GOA
involved in protein ubiquitination IDA
IDA: Inferred from direct assay
10500182 GOA
involved in protein ubiquitination IMP
IMP: Inferred from mutant phenotype
19720873 GOA
involved in regulation of ER to Golgi vesicle-mediated transport IDA
IDA: Inferred from direct assay
19706601 GOA
involved in regulation of protein processing IDA
IDA: Inferred from direct assay
19706601 GOA
Cellular Component GO Annotation Evidence Reference Source
part of Derlin-1 retrotranslocation complex IDA
IDA: Inferred from direct assay
25239945 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
12032852 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RNF139 Protein Structure

TRC8_N

TRC8_N: TRC8 N-terminal domain (18 - 516)

zf-RING_2

zf-RING_2: Ring finger domain (545 - 585)

  • 0
  • 200
  • 400
  • 600
  • 664 a.a.
Protein Preferred Names Protein Names

E3 ubiquitin-protein ligase RNF139

RING-type E3 ubiquitin transferase RNF139

Related Diseases

Diseases Alias
Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Dysgerminoma
Hereditary Renal Cell Carcinoma
Collecting Duct Carcinoma

Kidney Medullary Carcinoma

Renal Medullary Carcinoma

Bdc

Bellini Carcinoma

Bellini Duct Carcinoma

Cdc

Collecting Duct Carcinoma Of The Kidney

Renal Cell Adenocarcinoma

Carcinoma Of Renal Collecting Duct

Renal Carcinoma, Collecting Duct Type

Renal Cell Carcinoma

Bellini'S Duct Carcinoma

Renal Collecting Duct Carcinoma

Adenocarcinoma Of Kidney

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

Dysgerminoma Of Ovary

Ovarian Dysgerminoma

Malignant Dysgerminomatous Germ Cell Tumour Of Ovary

Dysgerminoma, Unspecified Site, Female

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta RNF139 VGNC VGNC:84109
Bos taurus RNF139 VGNC VGNC:34023
Canis familiaris RNF139 VGNC VGNC:45632
Mus musculus RNF139 MGD MGI:1923091
Rattus norvegicus RNF139 RGD RGD:1306670