RNF185 ring finger protein 185 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF185provided by HGNC
Official Full Name: ring finger protein 185provided by HGNC
Primary source: HGNC:HGNC:26783
See related: Ensembl:ENSG00000138942 MIM:620096; AllianceGenome:HGNC:26783
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables ubiquitin binding activity; ubiquitin protein ligase activity; and ubiquitin-like protein conjugating enzyme binding activity. Involved in several processes, including positive regulation of ERAD pathway; protein ubiquitination; and proteolysis involved in protein catabolic process. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in thyroid (RPKM 37.5), prostate (RPKM 19.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q12.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (31160182..31207019)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (31623670..31670571)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (31556168..31603005)

Chromosome 22 - NC_000022.11 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 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?

RNF185 Control of COL3A1 Expression Limits Prostate Cancer Migration and Metastatic Potential.
Title: RNF185 Control of COL3A1 Expression Limits Prostate Cancer Migration and Metastatic Potential.
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587.
Title: CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587.
increased RNF185 expression facilitated GC cell migration in vitro and promoted GC metastasis in vivo by downregulating JWA expression.
Title: RNF185 modulates JWA ubiquitination and promotes gastric cancer metastasis.
this study uncovers RNF185 as the first E3 ubiquitin ligase of cyclic GMP-AMP synthase (cGAS), shedding light on the regulation of cGAS activity in innate immune responses
Title: The E3 ubiquitin ligase RNF185 facilitates the cGAS-mediated innate immune response.
these results indicate that RNF185 negatively regulates osteogenesis through the degradation of Dvl2 and down-regulation of canonical Wnt signaling pathway and suggest a possible therapeutic target in osteoporosis.
Title: The E3 ligase RNF185 negatively regulates osteogenic differentiation by targeting Dvl2 for degradation.
data thus identify RNF185 and RNF5 as a novel E3 ligase module that is central to the control of CFTR degradation.
Title: RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).
Human BNIP1 colocalizes with RNF185 at mitochondria and is polyubiquitinated by RNF185 through K63-based ubiquitin linkage in vivo.
Title: RNF185, a novel mitochondrial ubiquitin E3 ligase, regulates autophagy through interaction with BNIP1.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of ring finger protein 185 (RNF185) in human primary T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:480808

SHGC-171991 (e-PCR)
- UniSTS:183596

D4S3181 (e-PCR)
- UniSTS:1909

SHGC-67789 (e-PCR)
- UniSTS:85877

AL022542 (e-PCR)
- UniSTS:45452

SHGC-8629 (e-PCR)
- UniSTS:18410

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin binding	IDA Inferred from Direct Assay 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 conjugating enzyme binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-like protein conjugating enzyme binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERAD pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ERAD pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IDA Inferred from Direct Assay more info	PubMed
involved_in endoplasmic reticulum mannose trimming	TAS Traceable Author Statement more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ERAD pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type I interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein K27-linked ubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autoubiquitination	IDA Inferred from Direct Assay more info	PubMed
involved_in transmembrane transport	TAS Traceable Author Statement more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in ubiquitin-dependent protein catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	NAS Non-traceable Author Statement more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum quality control compartment	IEA Inferred from Electronic Annotation more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF185

Names: BSK65-MONO1; BSK65-MONO2; BSK65-PANC1; BSK65-PANC2; BSK65-TEST1; BSK65-TEST2; BSK65-TEST3; RING-type E3 ubiquitin transferase RNF185

NP_001129297.1

EC 2.3.2.27

NP_689480.2

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.

mRNA and Protein(s)

NM_001135825.2 → NP_001129297.1 E3 ubiquitin-protein ligase RNF185 isoform 2

See identical proteins and their annotated locations for NP_001129297.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) is lacking two in-frame coding exons compared to transcript variant 1, resulting in a shorter isoform (2) missing a 56 aa protein segment compared to isoform 1.

Source sequence(s)

AA258379, DB134817, DQ296562

Consensus CDS

CCDS46689.1

Related

ENSP00000266252.7, ENST00000266252.8

Conserved Domains (1) summary

cl17238
Location:37 → 64

RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain
NM_152267.4 → NP_689480.2 E3 ubiquitin-protein ligase RNF185 isoform 1

See identical proteins and their annotated locations for NP_689480.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the predominant transcript and encodes the longer isoform (1).

Source sequence(s)

AA258379, BC033166, DB134817

Consensus CDS

CCDS13890.1

UniProtKB/Swiss-Prot

A8K5C1, A9X3T8, Q8N900, Q96GF1

Related

ENSP00000320508.5, ENST00000326132.11

Conserved Domains (1) summary

cd16744
Location:38 → 80

RING-HC_RNF185; RING finger, HC subclass, found in RING finger protein 185 (RNF185) and similar proteins

RNA

NR_024209.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) is missing an internal coding exon and contains an additional exon compared to transcript variant 1. This results in a frame-shift and premature translation termination, rendering the transcript susceptible to nonsense mediated mRNA decay (NMD). This transcript is sufficiently abundant to represent as a RefSeq record, however, the predicted protein is not represented because it is significantly truncated.

Source sequence(s)

AA258379, BC033166, BX648019, DB134817
NR_024210.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) uses an alternate donor splice site at one of the coding exons compared to transcript variant 1. This results in a frame-shift and premature translation termination, rendering the transcript susceptible to nonsense mediated mRNA decay (NMD). This transcript is sufficiently abundant to represent as a RefSeq record, however, the predicted protein is not represented because it is truncated.

Source sequence(s)

AA258379, BC033166, DA498404, DB134817
NR_024211.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (6) is missing an internal coding exon compared to transcript variant 1. This results in a frame-shift and premature translation termination, rendering the transcript susceptible to nonsense mediated mRNA decay (NMD). This transcript is sufficiently abundant to represent as a RefSeq record, however, the predicted protein is not represented because it is significantly truncated.

Source sequence(s)

AA258379, BC033166, BX648019, DB134817
NR_024212.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (7) is missing a coding exon (containing the translation start site) compared to transcript variant 1. This results in the use of a downstream AUG in a different frame, and a predicted protein that is severely truncated with no similarity to this gene product. However, this transcript is sufficiently abundant to represent as a RefSeq record.

Source sequence(s)

AA258379, BC033166, DB134817

Related

ENST00000471384.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

31160182..31207019

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

31623670..31670571

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001135824.1: Suppressed sequence

Description

NM_001135824.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.