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

Gene ID: 25897, updated on 15-Apr-2019

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
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

Genomic context

See RNF19A in Genome Data Viewer
Location:
8q22.2
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (100257059..100336218, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (101269285..101348446, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene sperm associated antigen 1 Neighboring gene uncharacterized LOC105375669 Neighboring gene uncharacterized LOC105375668 Neighboring gene microRNA 4471 Neighboring gene RNF19A-ANKRD46 intergenic CAGE-defined high expression enhancer Neighboring gene uncharacterized LOC105375670

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp566B1346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
transcription factor binding TAS
Traceable Author Statement
more info
PubMed 
ubiquitin conjugating enzyme binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
microtubule cytoskeleton organization TAS
Traceable Author Statement
more info
PubMed 
positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein polyubiquitination TAS
Traceable Author Statement
more info
 
regulation of protein catabolic process at postsynapse, modulating synaptic transmission IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
centrosome TAS
Traceable Author Statement
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
postsynapse IEA
Inferred from Electronic Annotation
more info
 
ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase RNF19A
Names
double ring-finger protein
protein p38 interacting with transcription factor Sp1
ring finger protein 19
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_011515258.1
XP_016868791.1
XP_016868792.1
XP_016868793.1
XP_024302886.1
XP_024302887.1
XP_024302888.1

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.

mRNA and Protein(s)

  1. NM_001280539.1NP_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
    Q9NV58
    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein
  2. NM_001353837.1NP_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
    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein
  3. NM_001353838.1NP_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
    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein
  4. NM_015435.4NP_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
    Q9NV58
    Related
    ENSP00000428968.1, ENST00000519449.5
    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein
  5. NM_183419.4NP_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
    Q9NV58
    Related
    ENSP00000342667.2, ENST00000341084.7
    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    100257059..100336218 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516956.3XP_011515258.1  E3 ubiquitin-protein ligase RNF19A isoform X2

    Conserved Domains (3) summary
    smart00184
    Location:132179
    RING; Ring finger
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
  2. XM_024447120.1XP_024302888.1  E3 ubiquitin-protein ligase RNF19A isoform X3

    Conserved Domains (2) summary
    pfam01485
    Location:325
    IBR; IBR domain, a half RING-finger domain
    cl00570
    Location:51140
    AzlC; AzlC protein
  3. XM_017013304.1XP_016868793.1  E3 ubiquitin-protein ligase RNF19A isoform X2

    Conserved Domains (3) summary
    smart00184
    Location:132179
    RING; Ring finger
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
  4. XM_017013302.1XP_016868791.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    Q9NV58
    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein
  5. XM_024447118.1XP_024302886.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein
  6. XM_017013303.2XP_016868792.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    UniProtKB/Swiss-Prot
    Q9NV58
    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein
  7. XM_024447119.1XP_024302887.1  E3 ubiquitin-protein ligase RNF19A isoform X1

    Conserved Domains (4) summary
    smart00647
    Location:199264
    IBR; In Between Ring fingers
    pfam01485
    Location:297335
    IBR; IBR domain, a half RING-finger domain
    cd16775
    Location:131185
    RING-HC_RBR_RNF19A; RING finger, HC subclass, found in RING finger protein 19A (RNF19A) and similar proteins
    cl00570
    Location:361450
    AzlC; AzlC protein

RNA

  1. XR_928315.3 RNA Sequence

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