RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNF19Aprovided by HGNC
Official Full Name: ring finger protein 19A, RBR E3 ubiquitin protein ligaseprovided by HGNC
Primary source: HGNC:HGNC:13432
See related: Ensembl:ENSG00000034677 MIM:607119; AllianceGenome:HGNC:13432
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: RNF19
Summary: This gene encodes a member of the ring between ring fingers (RBR) protein family, and the encoded protein contains two RING-finger motifs and an in between RING fingers motif. This protein is an E3 ubiquitin ligase that is localized to Lewy bodies, and ubiquitylates synphilin-1, which is an interacting protein of alpha synuclein in neurons. The encoded protein may be involved in amyotrophic lateral sclerosis and Parkinson's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in testis (RPKM 28.2), gall bladder (RPKM 22.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (100257067..100336204, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (101381852..101460987, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (101269295..101348432, complement)

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?

LncRNA KCNQ10T1 shuttled by bone marrow mesenchymal stem cell-derived exosome inhibits sepsis via regulation of miR-154-3p/RNF19A axis.
Title: LncRNA KCNQ10T1 shuttled by bone marrow mesenchymal stem cell-derived exosome inhibits sepsis via regulation of miR-154-3p/RNF19A axis.
CRISPR screening reveals gleason score and castration resistance related oncodriver ring finger protein 19 A (RNF19A) in prostate cancer.
Title: CRISPR screening reveals gleason score and castration resistance related oncodriver ring finger protein 19 A (RNF19A) in prostate cancer.
Ring finger protein 19A is overexpressed in non-small cell lung cancer and mediates p53 ubiquitin-degradation to promote cancer growth.
Title: Ring finger protein 19A is overexpressed in non-small cell lung cancer and mediates p53 ubiquitin-degradation to promote cancer growth.
RNF19A-mediated ubiquitination of BARD1 prevents BRCA1/BARD1-dependent homologous recombination.
Title: RNF19A-mediated ubiquitination of BARD1 prevents BRCA1/BARD1-dependent homologous recombination.
A more than 2-fold higher level of RNF19A mRNA in the blood of patients with prostate cancer than in healthy controls makes it an early diagnosis marker for this disease.
Title: Averaged differential expression for the discovery of biomarkers in the blood of patients with prostate cancer.
Findings suggest that RNF19 has acquired a new promoter and alternative exons via continuous retrotransposition.
Title: Cooperative exonization of MaLR and AluJo elements contributed an alternative promoter and novel splice variants of RNF19.
Valosin-containing protein functionally regulates Dorfin through direct interaction
Title: Physical and functional interaction between Dorfin and Valosin-containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders.
results suggest that synphilin-1 has an important role in the formation of aggregates and cytotoxicity in Parkinson disease and that Dorfin may be involved in the pathogenic process by ubiquitylation of synphilin-1
Title: Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1.
Dorfin-CHIP(L) rescued neuronal cells from mutant SOD1-associated toxicity and reduced the aggresome formation induced by mutant SOD1 more effectively than did Dorfin(WT).
Title: Dorfin-CHIP chimeric proteins potently ubiquitylate and degrade familial ALS-related mutant SOD1 proteins and reduce their cellular toxicity.
These results suggest that Dorfin plays a crucial role in the formation of ubiquitylated inclusions of alpha-synucleinopathy and amyotrophic lateral sclerosis.
Title: Dorfin localizes to the ubiquitylated inclusions in Parkinson's disease, dementia with Lewy bodies, multiple system atrophy, and amyotrophic lateral sclerosis.

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

EBI GWAS Catalog

Description
Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. EBI GWAS Catalog EBI GWAS CatalogPubMed

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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Replication interactions

Interaction	Pubs
Knockdown of ring finger protein 19A, E3 ubiquitin protein ligase (RNF19A) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1650 (e-PCR)
- UniSTS:64774

RNF19 (e-PCR)
- UniSTS:504354

RH92127 (e-PCR)
- UniSTS:87588

D3S4097 (e-PCR)
- UniSTS:473670

RH18438 (e-PCR)
- UniSTS:38829

RNF19_801 (e-PCR)
- UniSTS:277683

RNF19_V131 (e-PCR)
- UniSTS:277683

SHGC-37498 (e-PCR)
- UniSTS:32699

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin conjugating enzyme binding	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in microtubule cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of protein catabolic process at postsynapse, modulating synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in centrosome	TAS Traceable Author Statement more info	PubMed
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
located_in hippocampal mossy fiber to CA3 synapse	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RNF19A

Names: double ring-finger protein; protein p38 interacting with transcription factor Sp1; ring finger protein 19A, E3 ubiquitin protein ligase; ring-IBR-ring domain containing protein Dorfin

NP_001267468.1

EC 2.3.2.31

NP_001340766.1

EC 2.3.2.31

NP_001340767.1

EC 2.3.2.31

NP_056250.3

EC 2.3.2.31

NP_904355.1

EC 2.3.2.31

XP_047277620.1

EC 2.3.2.31

XP_047277621.1

EC 2.3.2.31

XP_047277622.1

EC 2.3.2.31

XP_047277623.1

EC 2.3.2.31

XP_047277624.1

EC 2.3.2.31

XP_047277625.1

EC 2.3.2.31

XP_047277626.1

EC 2.3.2.31

XP_047277627.1

EC 2.3.2.31

XP_047277628.1

EC 2.3.2.31

XP_047277629.1

EC 2.3.2.31

XP_047277631.1

EC 2.3.2.31

XP_047277632.1

EC 2.3.2.31

XP_054216220.1

EC 2.3.2.31

XP_054216221.1

EC 2.3.2.31

XP_054216222.1

EC 2.3.2.31

XP_054216223.1

EC 2.3.2.31

XP_054216224.1

EC 2.3.2.31

XP_054216225.1

EC 2.3.2.31

XP_054216226.1

EC 2.3.2.31

XP_054216227.1

EC 2.3.2.31

XP_054216228.1

EC 2.3.2.31

XP_054216229.1

EC 2.3.2.31

XP_054216230.1

EC 2.3.2.31

XP_054216231.1

EC 2.3.2.31

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_001280539.2 → NP_001267468.1 E3 ubiquitin-protein ligase RNF19A

See identical proteins and their annotated locations for NP_001267468.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AL122096, BC093938, BQ003778, DB061830

Consensus CDS

CCDS6286.1

UniProtKB/Swiss-Prot

A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

Conserved Domains (4) summary

smart00647
Location:199 → 264

IBR; In Between Ring fingers

pfam01485
Location:297 → 335

IBR; IBR domain, a half RING-finger domain

cd16775
Location:131 → 185

RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins

cl00570
Location:361 → 450

AzlC; AzlC protein
NM_001353837.2 → NP_001340766.1 E3 ubiquitin-protein ligase RNF19A

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AC025647, AP001574

Consensus CDS

CCDS6286.1

UniProtKB/Swiss-Prot

A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

Conserved Domains (4) summary

smart00647
Location:199 → 264

IBR; In Between Ring fingers

pfam01485
Location:297 → 335

IBR; IBR domain, a half RING-finger domain

cd16775
Location:131 → 185

RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins

cl00570
Location:361 → 450

AzlC; AzlC protein
NM_001353838.2 → NP_001340767.1 E3 ubiquitin-protein ligase RNF19A

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AC025647, AP001574

Consensus CDS

CCDS6286.1

UniProtKB/Swiss-Prot

A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

Conserved Domains (4) summary

smart00647
Location:199 → 264

IBR; In Between Ring fingers

pfam01485
Location:297 → 335

IBR; IBR domain, a half RING-finger domain

cd16775
Location:131 → 185

RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins

cl00570
Location:361 → 450

AzlC; AzlC protein
NM_015435.5 → NP_056250.3 E3 ubiquitin-protein ligase RNF19A

See identical proteins and their annotated locations for NP_056250.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AB029316, AL122096, AP001574, BC093938, BQ003778

Consensus CDS

CCDS6286.1

UniProtKB/Swiss-Prot

A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

Related

ENSP00000428968.1, ENST00000519449.5

Conserved Domains (4) summary

smart00647
Location:199 → 264

IBR; In Between Ring fingers

pfam01485
Location:297 → 335

IBR; IBR domain, a half RING-finger domain

cd16775
Location:131 → 185

RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins

cl00570
Location:361 → 450

AzlC; AzlC protein
NM_183419.4 → NP_904355.1 E3 ubiquitin-protein ligase RNF19A

See identical proteins and their annotated locations for NP_904355.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2, 3, 4, and 5 encode the same protein.

Source sequence(s)

AL122096, BC093938, BQ003778, DB037264

Consensus CDS

CCDS6286.1

UniProtKB/Swiss-Prot

A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

Related

ENSP00000342667.2, ENST00000341084.7

Conserved Domains (4) summary

smart00647
Location:199 → 264

IBR; In Between Ring fingers

pfam01485
Location:297 → 335

IBR; IBR domain, a half RING-finger domain

cd16775
Location:131 → 185

RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins

cl00570
Location:361 → 450

AzlC; AzlC protein