RNF139 ring finger protein 139 [Homo sapiens] - Gene

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Summary

Official Symbol: RNF139provided by HGNC
Official Full Name: ring finger protein 139provided by HGNC
Primary source: HGNC:17023
See related: Ensembl:ENSG00000170881; HPRD:04333; MIM:603046; Vega:OTTHUMG00000165072
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; MGC31961
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]

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Genomic context

Location :: 8q24

Sequence :: Chromosome: 8; NC_000008.10 (125487008..125500859)

See RNF139 in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
The presence of diploid and tetraploid tumor cells with and without TRC8 deletions on the nontranslocated chromosome suggest that loss of the remaining normal allele of TRC8 may contribute to tumor development at later stages.
Title: A constitutional balanced t(3;8)(p14;q24.1) translocation results in disruption of the TRC8 gene and predisposition to clear cell renal cell carcinoma.
TRC8 modulation of sterol response element binding protein activity comprises a novel regulatory link between growth control and the cholesterol/lipid homeostasis pathway.
Title: RING-dependent tumor suppression and G2/M arrest induced by the TRC8 hereditary kidney cancer gene.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Products	Interactant	Other Gene	Source	Pubs	Description
Q8WU17	Q92905	COPS5	HPRD	PubMed
Q8WU17	P40337	VHL	HPRD	PubMed
BioGRID:116401	BioGRID:114210	EIF3A	BioGRID	PubMed	Reconstituted Complex
BioGRID:116401	BioGRID:115859	ERLIN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:116331	ERLIN2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:109399	HMGCR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:109850	INSIG1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:119325	INSIG2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:116596	SCAP	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:115696	SEC24B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:112599	SREBF2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:123686	TMUB1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:116401	BioGRID:113176	UBE2H	BioGRID	PubMed	Two-hybrid
BioGRID:116401	BioGRID:127156	UBE2U	BioGRID	PubMed	Two-hybrid
BioGRID:116401	BioGRID:122419	UBE2Z	BioGRID	PubMed	Two-hybrid

Function	Evidence Code	Pubs
ligase activity	TAS Traceable Author Statement more info	PubMed
metal ion binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
receptor activity	TAS Traceable Author Statement more info	PubMed
small conjugating protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
ubiquitin-protein ligase activity	IDA Inferred from Direct Assay more info	PubMed
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
negative regulation of cell proliferation	IDA Inferred from Direct Assay more info	PubMed
negative regulation of translation	IDA Inferred from Direct Assay more info
protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed
regulation of ER to Golgi vesicle-mediated transport	IDA Inferred from Direct Assay more info	PubMed
regulation of protein processing	IDA Inferred from Direct Assay more info	PubMed
regulation of protein ubiquitination	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	TAS Traceable Author Statement more info	PubMed
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: E3 ubiquitin-protein ligase RNF139

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

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NCBI Reference Sequences (RefSeq)

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

5001..18852

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_007218.3 → NP_009149.2 E3 ubiquitin-protein ligase RNF139

Status: REVIEWED

Source sequence(s)

AA455970, BC021571, BI562637, BM677460, BM804626, CD171728

Consensus CDS

CCDS6350.1

UniProtKB/Swiss-Prot

Q8WU17

Related

ENSP00000304051, OTTHUMP00000228351, ENST00000303545, OTTHUMT00000381692

Conserved Domains (3) summary

cd00162
Location:547 – 589
Blast Score: 141

RING; RING-finger (Really Interesting New Gene) domain, a specialized type of Zn-finger of 40 to 60 residues that binds two atoms of zinc; defined by the 'cross-brace' motif C-X2-C-X(9-39)-C-X(1-3)- H-X(2-3)-(N/C/H)-X2-C-X(4-48)C-X2-C; probably involved in ...

pfam13705
Location:18 – 516
Blast Score: 1371

TRC8_N; TRC8 N-terminal domain

pfam13923
Location:544 – 587
Blast Score: 125

zf-C3HC4_2; Zinc finger, C3HC4 type (RING finger)

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p5 Primary Assembly

Range

125487008..125500859

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

120812471..120826584

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC090198.7 (58904..72755)	None
genomic	AF064800.1	AAC39931.1
genomic	CH471060.1	EAW92064.1
genomic	CQ871298.1	CAH56830.1
mRNA	AA455970.1	None
mRNA	AF064801.1	AAC39930.1
mRNA	AK001602.1	BAG50947.1
mRNA	AK025043.1	None
mRNA	AK098519.1	None
mRNA	BC021571.1	AAH21571.1
mRNA	BC064636.1	AAH64636.1
mRNA	BI562637.1	None
mRNA	BM677460.1	None
mRNA	BM804626.1	None
mRNA	CD171728.1	None