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

Gene ID: 25897, updated on 14-Nov-2024

Summary

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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
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Genomic context

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See RNF19A in Genome Data Viewer
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_000008.11Genomic Context describing neighboring genes Neighboring gene sperm associated antigen 1 Neighboring gene UFM1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19411 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19412 Neighboring gene uncharacterized LOC105375669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19413 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19414 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19415 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:101322379-101322538 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27689 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27690 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27691 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101347648-101348460 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:101348461-101349272 Neighboring gene uncharacterized LOC124901991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27692 Neighboring gene microRNA 4471

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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?
  1. 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.
  2. 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.
  3. 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.
  4. RNF19A-mediated ubiquitination of BARD1 prevents BRCA1/BARD1-dependent homologous recombination.
    Title: RNF19A-mediated ubiquitination of BARD1 prevents BRCA1/BARD1-dependent homologous recombination.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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

Variation

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See Variation Viewer (GRCh37.p13)

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

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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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

Homology

Clone Names

  • DKFZp566B1346

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
NP_001340766.1
NP_001340767.1
NP_056250.3
NP_904355.1
XP_047277620.1
XP_047277621.1
XP_047277622.1
XP_047277623.1
XP_047277624.1
XP_047277625.1
XP_047277626.1
XP_047277627.1
XP_047277628.1
XP_047277629.1
XP_047277631.1
XP_047277632.1
XP_054216220.1
XP_054216221.1
XP_054216222.1
XP_054216223.1
XP_054216224.1
XP_054216225.1
XP_054216226.1
XP_054216227.1
XP_054216228.1
XP_054216229.1
XP_054216230.1
XP_054216231.1

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)

  1. 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

  2. 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

  3. 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

  4. 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

  5. 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

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

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    100257067..100336204 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047421671.1 → XP_047277627.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  2. XM_047421673.1 → XP_047277629.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  3. XM_047421669.1 → XP_047277625.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  4. XM_047421664.1 → XP_047277620.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  5. XM_047421666.1 → XP_047277622.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  6. XM_047421668.1 → XP_047277624.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  7. XM_047421665.1 → XP_047277621.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  8. XM_047421667.1 → XP_047277623.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  9. XM_047421675.1 → XP_047277631.1  E3 ubiquitin-protein ligase RNF19A isoform X2

  10. XM_047421672.1 → XP_047277628.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  11. XM_047421670.1 → XP_047277626.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  12. XM_047421676.1 → XP_047277632.1  E3 ubiquitin-protein ligase RNF19A isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    101381852..101460987 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054360252.1 → XP_054216227.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  2. XM_054360254.1 → XP_054216229.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  3. XM_054360250.1 → XP_054216225.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  4. XM_054360245.1 → XP_054216220.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  5. XM_054360247.1 → XP_054216222.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  6. XM_054360249.1 → XP_054216224.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  7. XM_054360246.1 → XP_054216221.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  8. XM_054360248.1 → XP_054216223.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  9. XM_054360255.1 → XP_054216230.1  E3 ubiquitin-protein ligase RNF19A isoform X2

  10. XM_054360253.1 → XP_054216228.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  11. XM_054360251.1 → XP_054216226.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    A3KCU9, Q52LG1, Q9H5H9, Q9H8M8, Q9NV58, Q9UFG0, Q9UFX6, Q9Y4Y1

  12. XM_054360256.1 → XP_054216231.1  E3 ubiquitin-protein ligase RNF19A isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NV58.3 GenPept UniProtKB/Swiss-Prot:Q9NV58

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