RNF139 - ring finger protein 139 Gene

Also Known as RCA1; TRC8; HRCA1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 11236

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

RNF139 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RNF139 Q8WU17 VHL Homo sapiens P40337 12032852
Cross: Cross-species interaction Intra: Intraspecies interaction

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
Others RNF139 NCBI