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Aliases for RNF139 Gene

Aliases for RNF139 Gene

  • Ring Finger Protein 139 2 3
  • Translocation In Renal Carcinoma On Chromosome 8 Protein 3 4
  • TRC8 3 4
  • Patched Related Protein Translocated In Renal Cancer 3
  • Multiple Membrane Spanning Receptor TRC8 3
  • RING Finger Protein 139 4
  • EC 6.3.2.- 4
  • HRCA1 3
  • RCA1 3

External Ids for RNF139 Gene

Previous GeneCards Identifiers for RNF139 Gene

  • GC08P125155
  • GC08P125443
  • GC08P125556
  • GC08P125487
  • GC08P120812

Summaries for RNF139 Gene

Entrez Gene Summary for RNF139 Gene

  • 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]

GeneCards Summary for RNF139 Gene

RNF139 (Ring Finger Protein 139) is a Protein Coding gene. Diseases associated with RNF139 include hereditary clear cell renal cell carcinoma and hereditary renal cell carcinoma. Among its related pathways are Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include ligase activity and receptor activity. An important paralog of this gene is RNF145.

UniProtKB/Swiss-Prot for RNF139 Gene

  • 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.

Gene Wiki entry for RNF139 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF139 Gene

Genomics for RNF139 Gene

Regulatory Elements for RNF139 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RNF139 Gene

Chromosome:
8
Start:
124,474,738 bp from pter
End:
124,488,618 bp from pter
Size:
13,881 bases
Orientation:
Plus strand

Genomic View for RNF139 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for RNF139 Gene

Proteins for RNF139 Gene

  • Protein details for RNF139 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU17-RN139_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF139
    Protein Accession:
    Q8WU17
    Secondary Accessions:
    • B3KMD5
    • O75485
    • Q7LDL3

    Protein attributes for RNF139 Gene

    Size:
    664 amino acids
    Molecular mass:
    75994 Da
    Quaternary structure:
    • Interacts with MHC class I and HM13 (PubMed:19720873, PubMed:25239945). Interacts with VHL. Component of SCAP/SREBP complex composed of SREBF2, SCAP and RNF139; the complex hampers the interaction between SCAP and SEC24B, thereby reducing SREBF2 proteolytic processing. Interacts with SREBF2 (via C-terminal domain). Interacts with SCAP; the interaction inhibits the interaction of SCAP with SEC24B and hampering the ER to Golgi transport of the SCAP/SREBP complex. Interacts with SEC24B. Interacts with INSIG1 and INSIG2. Interacts with EIF3F and EIF3H; the interaction leads to protein translation inhibitions in a ubiquitination-dependent manner (PubMed:12032852, PubMed:19706601, PubMed:20068067). Interacts with XBP1 isoform 1; the interaction induces ubiquitination and degradation of XBP1 isoform 1 (PubMed:25239945).

neXtProt entry for RNF139 Gene

Proteomics data for RNF139 Gene at MOPED

Post-translational modifications for RNF139 Gene

  • Autoubiquitinated. Ubiquitination is induced by sterol and leads to ist degradation via the ubiquitin-proteasome pathway.
  • Ubiquitination at Lys 574
  • Modification sites at PhosphoSitePlus

Other Protein References for RNF139 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for RNF139 Gene

Domains & Families for RNF139 Gene

Gene Families for RNF139 Gene

Protein Domains for RNF139 Gene

Suggested Antigen Peptide Sequences for RNF139 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WU17

UniProtKB/Swiss-Prot:

RN139_HUMAN :
  • The RING-type zinc finger domain mediates ubiquitin ligase activity
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING-type zinc finger domain mediates ubiquitin ligase activity
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with RNF139: view

Function for RNF139 Gene

Molecular function for RNF139 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Down-regulated by sterols (at protein level).

Enzyme Numbers (IUBMB) for RNF139 Gene

Gene Ontology (GO) - Molecular Function for RNF139 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IPI 25239945
GO:0004842 ubiquitin-protein transferase activity IMP 19720873
GO:0004872 receptor activity TAS 9689122
GO:0005515 protein binding IPI 12032852
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with RNF139: view

Phenotypes for RNF139 Gene

GenomeRNAi human phenotypes for RNF139:
genes like me logo Genes that share phenotypes with RNF139: view

Animal Model Products

CRISPR Products

miRNA for RNF139 Gene

miRTarBase miRNAs that target RNF139

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RNF139

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for RNF139 Gene

Localization for RNF139 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF139 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF139 Gene COMPARTMENTS Subcellular localization image for RNF139 gene
Compartment Confidence
endoplasmic reticulum 5

Gene Ontology (GO) - Cellular Components for RNF139 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 12032852
GO:0016021 integral component of membrane TAS 12032852
GO:0036513 Derlin-1 retrotranslocation complex IDA 25239945
genes like me logo Genes that share ontologies with RNF139: view

Pathways & Interactions for RNF139 Gene

genes like me logo Genes that share pathways with RNF139: view

Pathways by source for RNF139 Gene

1 BioSystems pathway for RNF139 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q8WU17-RN139_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for RNF139 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation IDA 17016439
GO:0016567 protein ubiquitination IMP 19720873
GO:0017148 negative regulation of translation IDA 20068067
GO:0031396 regulation of protein ubiquitination IDA 10500182
GO:0031648 protein destabilization IMP 25239945
genes like me logo Genes that share ontologies with RNF139: view

No data available for SIGNOR curated interactions for RNF139 Gene

Drugs & Compounds for RNF139 Gene

No Compound Related Data Available

Transcripts for RNF139 Gene

mRNA/cDNA for RNF139 Gene

Unigene Clusters for RNF139 Gene

Ring finger protein 139:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RNF139

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF139 Gene

No ASD Table

Relevant External Links for RNF139 Gene

GeneLoc Exon Structure for
RNF139
ECgene alternative splicing isoforms for
RNF139

Expression for RNF139 Gene

mRNA expression in normal human tissues for RNF139 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNF139 Gene

This gene is overexpressed in Adrenal (34.7), Lung (22.8), and Heart (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RNF139 Gene



SOURCE GeneReport for Unigene cluster for RNF139 Gene Hs.744151

mRNA Expression by UniProt/SwissProt for RNF139 Gene

Q8WU17-RN139_HUMAN
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.
genes like me logo Genes that share expression patterns with RNF139: view

Protein tissue co-expression partners for RNF139 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RNF139 Gene

Orthologs for RNF139 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RNF139 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RNF139 35
  • 93.47 (n)
  • 95.93 (a)
RNF139 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF139 35
  • 94.78 (n)
  • 96.39 (a)
RNF139 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf139 35
  • 91.57 (n)
  • 93.67 (a)
Rnf139 16
Rnf139 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RNF139 35
  • 99.55 (n)
  • 99.4 (a)
RNF139 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rnf139 35
  • 91.31 (n)
  • 93.87 (a)
oppossum
(Monodelphis domestica)
Mammalia RNF139 36
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RNF139 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNF139 35
  • 74.95 (n)
  • 79.73 (a)
RNF139 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF139 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf139 35
  • 68.52 (n)
  • 72.14 (a)
zebrafish
(Danio rerio)
Actinopterygii rnf139 35
  • 62.07 (n)
  • 68.68 (a)
rnf139 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003666 35
  • 48.93 (n)
  • 42.29 (a)
fruit fly
(Drosophila melanogaster)
Insecta Trc8 35
  • 50.23 (n)
  • 46.3 (a)
Trc8 36
  • 30 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HRD1 36
  • 13 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9066 36
  • 47 (a)
OneToOne
Species with no ortholog for RNF139:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RNF139 Gene

ENSEMBL:
Gene Tree for RNF139 (if available)
TreeFam:
Gene Tree for RNF139 (if available)

Paralogs for RNF139 Gene

Paralogs for RNF139 Gene

genes like me logo Genes that share paralogs with RNF139: view

Variants for RNF139 Gene

Sequence variations from dbSNP and Humsavar for RNF139 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs1129066 -- 124,487,820(+) AATTA(C/T)TTCTG utr-variant-3-prime
rs3812471 -- 124,486,306(-) AATCC(A/G)TAAAT reference, synonymous-codon
rs4330675 -- 124,476,666(+) CACCA(C/T)CATAA intron-variant
rs4366064 -- 124,477,973(+) ATGAC(A/C)AACTG intron-variant
rs4551335 -- 124,481,701(+) TTTAT(A/G)AAGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RNF139 Gene

Variant ID Type Subtype PubMed ID
dgv7874n71 CNV Gain 21882294
dgv1307e199 CNV Deletion 23128226
nsv824727 CNV Loss 20364138
esv2523354 CNV Insertion 19546169
esv2660702 CNV Deletion 23128226
esv1584427 CNV Insertion 17803354

Variation tolerance for RNF139 Gene

Residual Variation Intolerance Score: 9.82% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.39; 27.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF139 Gene

HapMap Linkage Disequilibrium report
RNF139
Human Gene Mutation Database (HGMD)
RNF139

PCR Panel Products

  • Copy Number PCR Panels: for RNF139

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF139 Gene

Disorders for RNF139 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RNF139 Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hereditary clear cell renal cell carcinoma
  • hereditary clear cell renal cell adenocarcinoma
hereditary renal cell carcinoma
renal cell carcinoma
  • renal cell carcinoma, clear cell, somatic
chromophobe renal cell carcinoma
  • chrcc
clear cell renal cell carcinoma
  • clear cell rcc
- elite association

UniProtKB/Swiss-Prot

RN139_HUMAN
  • 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.

Relevant External Links for RNF139

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF139
genes like me logo Genes that share disorders with RNF139: view

No data available for Genatlas for RNF139 Gene

Publications for RNF139 Gene

  1. The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8. (PMID: 9689122) Gemmill R.M. … Drabkin H.A. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 23 67
  2. The TRC8 ubiquitin ligase is sterol regulated and interacts with lipid and protein biosynthetic pathways. (PMID: 20068067) Lee J.P. … Gemmill R.M. (Mol. Cancer Res. 2010) 23 67
  3. The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER. (PMID: 19720873) Stagg H.R. … Lehner P.J. (J. Cell Biol. 2009) 23 67
  4. The tumor suppressor gene TRC8/RNF139 is disrupted by a constitutional balanced translocation t(8;22)(q24.13;q11.21) in a young girl with dysgerminoma. (PMID: 19642973) Gimelli S. … Gimelli G. (Mol. Cancer 2009) 23 67
  5. RING-dependent tumor suppression and G2/M arrest induced by the TRC8 hereditary kidney cancer gene. (PMID: 17016439) Brauweiler A. … Gemmill R.M. (Oncogene 2007) 23 67

Products for RNF139 Gene

Sources for RNF139 Gene

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