Free for academic non-profit institutions. Other users need a Commercial license

Aliases for RNF19A Gene

Aliases for RNF19A Gene

  • Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase 2 3 5
  • 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 2.3.2.- 4
  • EC 6.3.2 58
  • 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 and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Class I MHC mediated antigen processing and presentation and Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway. GO annotations related to this gene include ligase activity and transcription factor binding. An important paralog of this gene is RNF19B.

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

Additional gene information for RNF19A Gene

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

Genomics for RNF19A Gene

Regulatory Elements for RNF19A Gene

Enhancers for RNF19A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08H100487 2 FANTOM5 Ensembl ENCODE dbSUPER 29.1 -159.2 -159155 16 HDGF PKNOX1 FOXA2 MLX ARID4B YBX1 YY1 SLC30A9 ZNF766 ZNF207 RNF19A SPAG1 PABPC1 ENSG00000202310 ANKRD46 ENSG00000253217 RGS22 ENSG00000254364 YWHAZ GC08M100535
GH08H100441 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.9 -107.6 -107599 5 HDGF RB1 NFIB YBX1 BATF RAD21 YY1 ZNF366 FOS ATF7 RNF19A ENSG00000253666 ENSG00000253217 ANKRD46 RGS22 SPAG1 PABPC1 GC08M100437 GC08M100448
GH08H100413 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.8 -79.4 -79449 4 PKNOX1 FEZF1 BRCA1 TCF12 FOS ZNF592 MAFF GLIS1 STAT3 HMBOX1 RNF19A ENSG00000253217 ENSG00000253666 SPAG1 ENSG00000253824 ENSG00000253842
GH08H100296 1.6 Ensembl ENCODE dbSUPER 21.8 +32.1 32117 15 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SPAG1 RNF19A ENSG00000253217 ENSG00000202310 ENSG00000253666 PIR38264
GH08H100385 1.5 FANTOM5 Ensembl ENCODE 23.1 -50.1 -50083 2 ELF3 TBL1XR1 BMI1 BATF RAD21 RARA SLC30A9 ATF7 ETV6 RUNX3 RNF19A ENSG00000253217 ENSG00000253666 SPAG1 MIR4471 ENSG00000253824
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNF19A on UCSC Golden Path with GeneCards custom track

Genomic Location for RNF19A Gene

Chromosome:
8
Start:
100,257,059 bp from pter
End:
100,336,218 bp from pter
Size:
79,160 bases
Orientation:
Minus strand

Genomic View for RNF19A Gene

Genes around RNF19A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNF19A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for RNF19A Gene

Q9NV58:
  • VCGCEFCWLCMKEISDLHYLSPSGCTFWGKKPWSRKKK
  • RLEVQADVQKE
  • DPDCRWCPAPDCG
  • LMEKYEEF
  • TEFCYHCKQIWHPNQTCD
  • AYIIKMNDGSCNHMTC
  • SKHKRNLAI
  • DDIKPCPRC
  • CLRQYLRIEI
  • KYEEFMLRR

Post-translational modifications for RNF19A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for RNF19A Gene

Gene Families for RNF19A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for RNF19A Gene

Graphical View of Domain Structure for InterPro Entry

Q9NV58

UniProtKB/Swiss-Prot:

RN19A_HUMAN :
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
  • Belongs to the RBR family. RNF19 subfamily.
Domain:
  • Members of the RBR family are atypical E3 ligases. They interact with the E2 conjugating enzyme UBE2L3 and function like HECT-type E3 enzymes: they bind E2s via the first RING domain, but require an obligate trans-thiolation step during the ubiquitin transfer, requiring a conserved cysteine residue in the second RING domain.
Family:
  • Belongs to the RBR family. RNF19 subfamily.
genes like me logo Genes that share domains with RNF19A: view

Function for RNF19A Gene

Molecular function for RNF19A Gene

UniProtKB/Swiss-Prot CatalyticActivity:
S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
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

Phenotypes From GWAS Catalog for RNF19A Gene

Gene Ontology (GO) - Molecular Function for RNF19A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity TAS,IEA --
GO:0008134 transcription factor binding TAS 10976766
GO:0016740 transferase activity IEA --
GO:0031624 ubiquitin conjugating enzyme binding IBA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RNF19A: view
genes like me logo Genes that share phenotypes with RNF19A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for RNF19A

CRISPR Products

miRNA for RNF19A Gene

miRTarBase miRNAs that target RNF19A

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RNF19A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNF19A gene
Compartment Confidence
cytoskeleton 5
cytosol 4
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for RNF19A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IBA --
GO:0005737 cytoplasm IBA --
GO:0005813 centrosome TAS 11237715
GO:0005815 microtubule organizing center IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RNF19A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RNF19A Gene

Pathways & Interactions for RNF19A Gene

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

UniProtKB/Swiss-Prot Q9NV58-RN19A_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for RNF19A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IBA,TAS --
GO:0000226 microtubule cytoskeleton organization TAS 11237715
GO:0016567 protein ubiquitination IEA --
GO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IBA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with RNF19A: view

No data available for SIGNOR curated interactions for RNF19A Gene

Drugs & Compounds for RNF19A Gene

(2) Additional Compounds for RNF19A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Clone Products

  • Applied Biological Materials Clones for RNF19A
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for RNF19A Gene

Protein differential expression in normal tissues from HIPED for RNF19A Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RNF19A Gene



Protein tissue co-expression partners for RNF19A Gene

NURSA nuclear receptor signaling pathways regulating expression of RNF19A Gene:

RNF19A

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.

Evidence on tissue expression from TISSUES for RNF19A Gene

  • Nervous system(4.8)
  • Intestine(4.3)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with RNF19A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.88 (n)
dog
(Canis familiaris)
Mammalia RNF19A 33 34
  • 95.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 95 (a)
OneToMany
-- 34
  • 85 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RNF19A 33 34
  • 94.59 (n)
oppossum
(Monodelphis domestica)
Mammalia RNF19A 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rnf19a 33 16 34
  • 88.7 (n)
rat
(Rattus norvegicus)
Mammalia Rnf19a 33
  • 88.42 (n)
chicken
(Gallus gallus)
Aves RNF19A 33 34
  • 82.62 (n)
lizard
(Anolis carolinensis)
Reptilia RNF19A 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnf19a 33
  • 76.62 (n)
Str.7177 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.4121 33
zebrafish
(Danio rerio)
Actinopterygii FP236813.1 34
  • 69 (a)
OneToOne
LOC557995 33
  • 67.24 (n)
worm
(Caenorhabditis elegans)
Secernentea Y49F6B.9 34
  • 41 (a)
ManyToMany
C17H11.6 34
  • 33 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4268 33
Species where no ortholog for RNF19A was found in the sources mined by GeneCards:
  • 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

(2) 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
rs1000013412 -- 100,329,598(+) GAGAG(A/C)CACAT intron-variant
rs1000028193 -- 100,322,819(+) GGGGA(A/G)TGGCT intron-variant
rs1000105600 -- 100,281,009(+) AATAG(A/G)AGGTC intron-variant
rs1000161459 -- 100,305,284(+) CAGGT(A/C)GCCTG intron-variant, upstream-variant-2KB
rs1000202932 -- 100,261,206(+) CCTCC(A/G/T)ACCTC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv472109 CNV novel sequence insertion 20440878
nsv820040 CNV loss 19587683

Variation tolerance for RNF19A Gene

Residual Variation Intolerance Score: 4.28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.18; 23.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNF19A Gene

Human Gene Mutation Database (HGMD)
RNF19A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNF19A

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

Disorders for RNF19A Gene

MalaCards: The human disease database

(3) MalaCards diseases for RNF19A Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lateral sclerosis
  • adult-onset primary lateral sclerosis
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
parkinson disease, late-onset
  • parkinson disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RNF19A

Genetic Association Database (GAD)
RNF19A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNF19A
genes like me logo Genes that share disorders with RNF19A: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 (Biochemical and biophysical research communications 2001) 2 3 4 22 60
  2. Calcium-sensing receptor ubiquitination and degradation mediated by the E3 ubiquitin ligase dorfin. (PMID: 16513638) Huang Y … Breitwieser GE (The Journal of biological chemistry 2006) 3 4 22 60
  3. 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 (The Journal of biological chemistry 2004) 3 4 22 60
  4. Dorfin localizes to Lewy bodies and ubiquitylates synphilin-1. (PMID: 12750386) Ito T … Sobue G (The Journal of biological chemistry 2003) 3 4 22 60
  5. Dorfin ubiquitylates mutant SOD1 and prevents mutant SOD1-mediated neurotoxicity. (PMID: 12145308) Niwa J … Sobue G (The Journal of biological chemistry 2002) 3 4 22 60

Products for RNF19A Gene

Sources for RNF19A Gene

Content
Loading form....