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Aliases for RNF19A Gene

Aliases for RNF19A Gene

  • Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase 2 3
  • Ring Finger Protein 19A, E3 Ubiquitin Protein Ligase 2 3
  • Double Ring-Finger Protein 3 4
  • Ring Finger Protein 19 2 3
  • RNF19 3 4
  • Protein P38 Interacting With Transcription Factor Sp1 3
  • Ring-IBR-Ring Domain Containing Protein Dorfin 3
  • E3 Ubiquitin-Protein Ligase RNF19A 3
  • Ring Finger Protein 19A 2
  • RING Finger Protein 19A 4
  • EC 6.3.2.- 4
  • EC 6.3.2 63
  • Dorfin 4
  • P38 4

External Ids for RNF19A Gene

Previous HGNC Symbols for RNF19A Gene

  • RNF19

Previous GeneCards Identifiers for RNF19A Gene

  • GC08M101340
  • GC08M096472
  • GC08M101269

Summaries for RNF19A Gene

Entrez Gene Summary for RNF19A Gene

  • 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]

GeneCards Summary for RNF19A Gene

RNF19A (Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with RNF19A include lateral sclerosis. Among its related pathways are Parkin-Ubiquitin Proteasomal System pathway and Parkin-Ubiquitin Proteasomal System pathway. GO annotations related to this gene include transcription factor binding and ligase activity. An important paralog of this gene is ANKIB1.

UniProtKB/Swiss-Prot for RNF19A Gene

  • E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection.

Gene Wiki entry for RNF19A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNF19A Gene

Genomics for RNF19A Gene

Regulatory Elements for RNF19A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for RNF19A Gene

Start:
100,257,057 bp from pter
End:
100,410,015 bp from pter
Size:
152,959 bases
Orientation:
Minus strand

Genomic View for RNF19A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RNF19A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNF19A Gene

Proteins for RNF19A Gene

  • Protein details for RNF19A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NV58-RN19A_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase RNF19A
    Protein Accession:
    Q9NV58
    Secondary Accessions:
    • A3KCU9
    • Q52LG1
    • Q9H5H9
    • Q9H8M8
    • Q9UFG0
    • Q9UFX6
    • Q9Y4Y1

    Protein attributes for RNF19A Gene

    Size:
    838 amino acids
    Molecular mass:
    90696 Da
    Quaternary structure:
    • Interacts with UBE2L3 and UBE2L6. Interacts with transcription factor Sp1. Interacts with VCP, CASR, SNCAIP and with some SOD1 variants which cause amyotrophic lateral sclerosis, but not with wild-type SOD1.
    SequenceCaution:
    • Sequence=BAB14581.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15647.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for RNF19A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNF19A Gene

Proteomics data for RNF19A Gene at MOPED

Post-translational modifications for RNF19A Gene

  • Ubiquitination at Lys352 and Lys353
  • Modification sites at PhosphoSitePlus

Domains for RNF19A Gene

Gene Families for RNF19A Gene

HGNC:
  • RNF :RING-type (C3HC4) zinc fingers

Protein Domains for RNF19A Gene

Suggested Antigen Peptide Sequences for RNF19A Gene

Graphical View of Domain Structure for InterPro Entry

Q9NV58

UniProtKB/Swiss-Prot:

RN19A_HUMAN :
  • Q9NV58
Family:
  • Belongs to the RBR family. RNF19 subfamily.
Similarity:
  • Contains 1 IBR-type zinc finger.
  • Contains 2 RING-type zinc fingers.
genes like me logo Genes that share domains with RNF19A: view

Function for RNF19A Gene

Molecular function for RNF19A Gene

UniProtKB/Swiss-Prot Function: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes UBE2L3 and UBE2L6 in the form of a thioester and then directly transfers the ubiquitin to targeted substrates, such as SNCAIP or CASR. Specifically ubiquitinates pathogenic SOD1 variants, which leads to their proteasomal degradation and to neuronal protection.

Enzyme Numbers (IUBMB) for RNF19A Gene

Gene Ontology (GO) - Molecular Function for RNF19A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008134 transcription factor binding TAS 10976766
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with RNF19A: view

Phenotypes for RNF19A Gene

GenomeRNAi human phenotypes for RNF19A:
genes like me logo Genes that share phenotypes with RNF19A: view

Animal Model Products

CRISPR Products

miRNA for RNF19A Gene

miRTarBase miRNAs that target RNF19A

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RNF19A

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for RNF19A Gene

Localization for RNF19A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNF19A Gene

Membrane; Multi-pass membrane protein. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Present in the hyaline inclusion bodies specifically found in motor neurons from amyotrophic lateral sclerosis patients. Present in the Lewy bodies specifically found in neurons from Parkinson disease patients.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RNF19A Gene COMPARTMENTS Subcellular localization image for RNF19A gene
Compartment Confidence
cytoskeleton 5
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for RNF19A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome TAS 11237715
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with RNF19A: view

Pathways for RNF19A Gene

genes like me logo Genes that share pathways with RNF19A: view

Pathways by source for RNF19A Gene

1 BioSystems pathway for RNF19A Gene
1 GeneGo (Thomson Reuters) pathway for RNF19A Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9NV58-RN19A_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Interacting Proteins for RNF19A Gene

Gene Ontology (GO) - Biological Process for RNF19A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization TAS 11237715
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with RNF19A: view

Compounds for RNF19A Gene

(2) Novoseek inferred chemical compound relationships for RNF19A Gene

Compound -log(P) Hits PubMed IDs
mg 132 74.3 3
superoxide 8.66 4
genes like me logo Genes that share compounds with RNF19A: view

Transcripts for RNF19A Gene

Unigene Clusters for RNF19A Gene

Ring finger protein 19A, E3 ubiquitin protein ligase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RNF19A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RNF19A Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b · 5c · 5d · 5e ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13
SP1: - -
SP2: - - -
SP3: - - -
SP4: -
SP5: - -
SP6: - - - - - - -
SP7: - - - - - -
SP8:
SP9:

Relevant External Links for RNF19A Gene

GeneLoc Exon Structure for
RNF19A
ECgene alternative splicing isoforms for
RNF19A

Expression for RNF19A Gene

mRNA expression in normal human tissues for RNF19A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RNF19A Gene

SOURCE GeneReport for Unigene cluster for RNF19A Gene Hs.292882

mRNA Expression by UniProt/SwissProt for RNF19A Gene

Q9NV58-RN19A_HUMAN
Tissue specificity: Widely expressed, with highest levels in heart. Ubiquitously expressed in the central nervous system.
genes like me logo Genes that share expressions with RNF19A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for RNF19A Gene

Orthologs for RNF19A Gene

This gene was present in the common ancestor of animals.

Orthologs for RNF19A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNF19A 35
  • 99.88 (n)
  • 100 (a)
RNF19A 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RNF19A 35
  • 94.59 (n)
  • 97.85 (a)
RNF19A 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNF19A 35
  • 95.47 (n)
  • 97.85 (a)
RNF19A 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf19a 35
  • 88.7 (n)
  • 93.79 (a)
Rnf19a 16
Rnf19a 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RNF19A 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 95 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
-- 36
  • 85 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Rnf19a 35
  • 88.42 (n)
  • 93.08 (a)
chicken
(Gallus gallus)
Aves RNF19A 35
  • 82.62 (n)
  • 90.65 (a)
RNF19A 36
  • 90 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RNF19A 36
  • 87 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.4121 35
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf19a 35
  • 76.62 (n)
  • 87.28 (a)
Str.7177 35
zebrafish
(Danio rerio)
Actinopterygii FP236813.1 36
  • 69 (a)
OneToOne
LOC557995 35
  • 67.24 (n)
  • 76.83 (a)
worm
(Caenorhabditis elegans)
Secernentea C17H11.6 36
  • 33 (a)
ManyToMany
Y49F6B.9 36
  • 41 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4268 35
Species with no ortholog for RNF19A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNF19A Gene

ENSEMBL:
Gene Tree for RNF19A (if available)
TreeFam:
Gene Tree for RNF19A (if available)

Paralogs for RNF19A Gene

Paralogs for RNF19A Gene

Selected SIMAP similar genes for RNF19A Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with RNF19A: view

Variants for RNF19A Gene

Sequence variations from dbSNP and Humsavar for RNF19A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs959022 -- 100,283,764(+) CATAA(A/T)TTCAC intron-variant
rs962451 -- 100,318,782(+) TAGCC(C/T)AATTT intron-variant
rs962452 -- 100,319,141(+) AAGAT(A/G)GACAT intron-variant
rs1020171 -- 100,276,382(+) tcaaa(C/T)agatt intron-variant
rs1047901 -- 100,258,056(-) TTTTT(C/T)TTCAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RNF19A Gene

Variant ID Type Subtype PubMed ID
nsv820040 CNV Loss 19587683

Relevant External Links for RNF19A Gene

HapMap Linkage Disequilibrium report
RNF19A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNF19A Gene

Disorders for RNF19A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for RNF19A Gene including...

Search for RNF19A Gene in MalaCards »

(1) University of Copenhagen DISEASES for RNF19A Gene

(3) Novoseek inferred disease relationships for RNF19A Gene

Disease -log(P) Hits PubMed IDs
amyotrophic lateral sclerosis 73.9 4
parkinson disease 52.6 4
neurodegenerative diseases 51.6 5

Relevant External Links for RNF19A

Genetic Association Database (GAD)
RNF19A
genes like me logo Genes that share disorders with RNF19A: view

No data available for UniProtKB/Swiss-Prot for RNF19A Gene

Publications for RNF19A Gene

  1. A novel centrosomal ring-finger protein, dorfin, mediates ubiquitin ligase activity. (PMID: 11237715) Niwa J. … Sobue G. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 23
  2. Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity. (PMID: 12145308) Niwa J. … Sobue G. (J. Biol. Chem. 2002) 3 4 23
  3. Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1. (PMID: 12750386) Ito T. … Sobue G. (J. Biol. Chem. 2003) 3 4 23
  4. Physical and functional interaction between dorfin and valosin- containing protein that are colocalized in ubiquitylated inclusions in neurodegenerative disorders. (PMID: 15456787) Ishigaki S. … Sobue G. (J. Biol. Chem. 2004) 3 4 23
  5. Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin. (PMID: 16513638) Huang Y. … Breitwieser G.E. (J. Biol. Chem. 2006) 3 4 23

Products for RNF19A Gene

Sources for RNF19A Gene

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