RNF139 ring finger protein 139 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF139provided by HGNC
Official Full Name: ring finger protein 139provided by HGNC
Primary source: HGNC:HGNC:17023
See related: Ensembl:ENSG00000170881 MIM:603046; AllianceGenome:HGNC:17023
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RCA1; TRC8; HRCA1
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]
Expression: Ubiquitous expression in bone marrow (RPKM 33.6), testis (RPKM 25.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (124474880..124488618)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (125607587..125621646)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (125487121..125500859)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An E3 Ubiquitin Ligase RNF139 Serves as a Tumor-Suppressor in Glioma.
Title: An E3 Ubiquitin Ligase RNF139 Serves as a Tumor-Suppressor in Glioma.
INSIG1 coordinated with another ligase, translocation in renal carcinoma chromosome 8 (TRC8), and promoted Gag degradation through the lysosome pathway.
Title: Insulin-induced gene 1 (INSIG1) inhibits HIV-1 production by degrading Gag via activity of the ubiquitin ligase TRC8.
TRC8 and MARCH6 depletion altered the turnover of the tail-anchored protein heme oxygenase-1.
Title: MARCH6 and TRC8 facilitate the quality control of cytosolic and tail-anchored proteins.
Low RNF139 expression is associated with progression of tongue cancer.
Title: E3 ubiquitin ligase, RNF139, inhibits the progression of tongue cancer.
interaction with Bag1 then shifts hERG degradation to the membrane-anchored E3 ligase TRC8 and its E2-conjugating enzyme Ube2g2, as determined by siRNA screening
Title: Bag1 Co-chaperone Promotes TRC8 E3 Ligase-dependent Degradation of Misfolded Human Ether a Go-Go-related Gene (hERG) Potassium Channels.
TRC8 and TMEM129 are endoplasmic reticulum-associated degradation ubiquitin E3 ligases for viral and cellular targeting of MHC class I. (Review)
Title: Identifying the ERAD ubiquitin E3 ligases for viral and cellular targeting of MHC class I.
TRC8 suppresses tumorigenesis through targeting heme oxygenase-1 for ubiquitination and degradation.
Title: TRC8 suppresses tumorigenesis through targeting heme oxygenase-1 for ubiquitination and degradation.
TRC8 function may provide a regulatory link between the lipid and protein biosynthetic pathways.
Title: The TRC8 ubiquitin ligase is sterol regulated and interacts with lipid and protein biosynthetic pathways.
Data show that the TRC8 E3 ligase is required for MHC I dislocation from the ER and identify a new complex associated with mammalian ERAD.
Title: The TRC8 E3 ligase ubiquitinates MHC class I molecules before dislocation from the ER.
TRC8 is a novel sterol-sensing endoplasmic reticulum membrane protein that hinders SREBP-2 processing through interaction with SREBP-2 and SCAP, regulating its own turnover rate by means of its E3 ubiquitin ligase activity
Title: The sterol-sensing endoplasmic reticulum (ER) membrane protein TRC8 hampers ER to Golgi transport of sterol regulatory element-binding protein-2 (SREBP-2)/SREBP cleavage-activated protein and reduces SREBP-2 cleavage.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nonpapillary renal cell carcinoma MedGen: CN074294 OMIM: 144700 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12544 (e-PCR)
- UniSTS:44560

D8S1351E (e-PCR)
- UniSTS:151166

RNF139_1825 (e-PCR)
- UniSTS:280968

RH48564 (e-PCR)
- UniSTS:60069

PMC21380P1 (e-PCR)
- UniSTS:272044

PMC21380P10 (e-PCR)
- UniSTS:272045

EST3C7 (e-PCR)
- UniSTS:263342

PMC21380P11 (e-PCR)
- UniSTS:272046

PMC21380P12 (e-PCR)
- UniSTS:272047

PMC21380P13 (e-PCR)
- UniSTS:272048

PMC21380P14 (e-PCR)
- UniSTS:272049

PMC21380P15 (e-PCR)
- UniSTS:272050

PMC21380P2 (e-PCR)
- UniSTS:272051

PMC21380P3 (e-PCR)
- UniSTS:272052

PMC21380P4 (e-PCR)
- UniSTS:272053

PMC21380P5 (e-PCR)
- UniSTS:272054

PMC21380P6 (e-PCR)
- UniSTS:272055

PMC21380P7 (e-PCR)
- UniSTS:272056

PMC21380P8 (e-PCR)
- UniSTS:272057

PMC21380P9 (e-PCR)
- UniSTS:272058

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	TAS Traceable Author Statement more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin protein ligase activity	TAS Traceable Author Statement more info
enables ubiquitin-like protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IDA Inferred from Direct Assay more info	PubMed
enables ubiquitin-protein transferase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proteasome-mediated ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein destabilization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in protein ubiquitination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ER to Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of protein processing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Derlin-1 retrotranslocation complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Derlin-1 retrotranslocation complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in endomembrane system	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF139

Names: RING-type E3 ubiquitin transferase RNF139; multiple membrane spanning receptor TRC8; patched related protein translocated in renal cancer; translocation in renal carcinoma on chromosome 8 protein; translocation in renal carcinoma, chromosome 8

NP_009149.2

EC 2.3.2.27

XP_047277266.1

EC 2.3.2.27

XP_054189018.1

EC 2.3.2.27

XP_054215657.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012158.1 RefSeqGene

Range

5114..18852

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007218.4 → NP_009149.2 E3 ubiquitin-protein ligase RNF139

See identical proteins and their annotated locations for NP_009149.2

Status: REVIEWED

Source sequence(s)

AA455970, BC021571, BM677460, BM804626, CD171728

Consensus CDS

CCDS6350.1

UniProtKB/Swiss-Prot

B3KMD5, O75485, Q7LDL3, Q8WU17

Related

ENSP00000304051.4, ENST00000303545.4

Conserved Domains (2) summary

cd16683
Location:545 → 586

RING-H2_RNF139; RING finger, H2 subclass, found in RING finger protein 139 (RNF139) and similar proteins

pfam13705
Location:19 → 516

TRC8_N; TRC8 N-terminal domain