Aliases for ENDOV Gene

Aliases for ENDOV Gene

  • Endonuclease V 2 3 4 5
  • Inosine-Specific Endoribonuclease 3 4
  • HEndoV 3 4
  • EC 3.1.26.- 4
  • FLJ35220 2
  • ENDOV 5

External Ids for ENDOV Gene

Previous GeneCards Identifiers for ENDOV Gene

  • GC17P078389

Summaries for ENDOV Gene

GeneCards Summary for ENDOV Gene

ENDOV (Endonuclease V) is a Protein Coding gene. Diseases associated with ENDOV include Xeroderma Pigmentosum, Variant Type. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and single-stranded RNA binding.

UniProtKB/Swiss-Prot Summary for ENDOV Gene

  • [Isoform 1]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:23912683, PubMed:23912718, PubMed:27573237, PubMed:31703097, PubMed:25195743). Active against both single-stranded and double-stranded RNAs (PubMed:31703097, PubMed:25195743). Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs) (PubMed:23912718). Cleaves mRNAs and tRNAs containing inosine (PubMed:23912683, PubMed:31703097). Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3' (PubMed:23912718, PubMed:27573237). Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing (Probable). Binds branched DNA structures (PubMed:23139746).
  • [Isoform 6]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:31703097). Active against both single-stranded and double-stranded RNAs (PubMed:31703097). Cleaves tRNAs containing inosine (PubMed:31703097).
  • [Isoform 7]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:31703097). Active against both single-stranded and double-stranded RNAs (PubMed:31703097). Cleaves tRNAs containing inosine (PubMed:31703097).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ENDOV Gene

Genomics for ENDOV Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ENDOV Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENDOV on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ENDOV

Genomic Locations for ENDOV Gene

Latest Assembly
chr17:80,415,117-80,438,086
(GRCh38/hg38)
Size:
22,970 bases
Orientation:
Plus strand

Previous Assembly
chr17:78,388,967-78,411,886
(GRCh37/hg19 by Entrez Gene)
Size:
22,920 bases
Orientation:
Plus strand

chr17:78,388,965-78,411,886
(GRCh37/hg19 by Ensembl)
Size:
22,922 bases
Orientation:
Plus strand

Genomic View for ENDOV Gene

Genes around ENDOV on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ENDOV Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ENDOV Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ENDOV Gene

Proteins for ENDOV Gene

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

    Protein Symbol:
    Q8N8Q3-ENDOV_HUMAN
    Recommended name:
    Endonuclease V
    Protein Accession:
    Q8N8Q3
    Secondary Accessions:
    • I3L3S4
    • Q6P2G2
    • Q86X99
    • Q8NAK0

    Protein attributes for ENDOV Gene

    Size:
    282 amino acids
    Molecular mass:
    30792 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Monomer (PubMed:25195743). Interacts with PABPC1; the interaction is RNA-dependent and stimulates ENDOV activity (PubMed:27573237).

    Three dimensional structures from OCA and Proteopedia for ENDOV Gene

    Alternative splice isoforms for ENDOV Gene

neXtProt entry for ENDOV Gene

Post-translational modifications for ENDOV Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ENDOV Gene

Domains & Families for ENDOV Gene

Gene Families for ENDOV Gene

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

Protein Domains for ENDOV Gene

InterPro:

Suggested Antigen Peptide Sequences for ENDOV Gene

GenScript: Design optimal peptide antigens:
  • Endonuclease V (ENDOV_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N8Q3

UniProtKB/Swiss-Prot:

ENDOV_HUMAN :
  • Belongs to the endonuclease V family.
Family:
  • Belongs to the endonuclease V family.
genes like me logo Genes that share domains with ENDOV: view

Function for ENDOV Gene

Molecular function for ENDOV Gene

UniProtKB/Swiss-Prot Function:
[Isoform 1]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:23912683, PubMed:23912718, PubMed:27573237, PubMed:31703097, PubMed:25195743). Active against both single-stranded and double-stranded RNAs (PubMed:31703097, PubMed:25195743). Has strong preference for single-stranded RNAs (ssRNAs) toward double-stranded RNAs (dsRNAs) (PubMed:23912718). Cleaves mRNAs and tRNAs containing inosine (PubMed:23912683, PubMed:31703097). Also able to cleave structure-specific dsRNA substrates containing the specific sites 5'-IIUI-3' and 5'-UIUU-3' (PubMed:23912718, PubMed:27573237). Inosine is present in a number of RNAs following editing; the function of inosine-specific endoribonuclease is still unclear: it could either play a regulatory role in edited RNAs, or be involved in antiviral response by removing the hyperedited long viral dsRNA genome that has undergone A-to-I editing (Probable). Binds branched DNA structures (PubMed:23139746).
UniProtKB/Swiss-Prot Function:
[Isoform 6]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:31703097). Active against both single-stranded and double-stranded RNAs (PubMed:31703097). Cleaves tRNAs containing inosine (PubMed:31703097).
UniProtKB/Swiss-Prot Function:
[Isoform 7]: Endoribonuclease that specifically cleaves inosine-containing RNAs: cleaves RNA at the second phosphodiester bond 3' to inosine (PubMed:31703097). Active against both single-stranded and double-stranded RNAs (PubMed:31703097). Cleaves tRNAs containing inosine (PubMed:31703097).
UniProtKB/Swiss-Prot EnzymeRegulation:
[Isoform 1]: Inhibited by normal intracellular concentrations of ATP.

Enzyme Numbers (IUBMB) for ENDOV Gene

Phenotypes From GWAS Catalog for ENDOV Gene

Gene Ontology (GO) - Molecular Function for ENDOV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding TAS 23912683
GO:0003677 DNA binding IEA,IDA 23139746
GO:0003723 RNA binding IEA --
GO:0003727 single-stranded RNA binding IDA 23912683
GO:0004518 nuclease activity IEA --
genes like me logo Genes that share ontologies with ENDOV: view
genes like me logo Genes that share phenotypes with ENDOV: view

Animal Models for ENDOV Gene

MGI Knock Outs for ENDOV:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENDOV

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ENDOV Gene

Localization for ENDOV Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENDOV Gene

[Isoform 1]: Cytoplasm. Nucleus, nucleolus. Cytoplasm, Stress granule. Note=Relocalizes to cytoplasmic stress granules upon cellular stress where it colocalizes with PABPC1. {ECO:0000269 PubMed:27573237}.
[Isoform 6]: Cytoplasm. Nucleus, nucleolus. Cytoplasm, Stress granule. Note=Relocalizes to cytoplasmic stress granules upon cellular stress. {ECO:0000269 PubMed:31703097}.
[Isoform 7]: Cytoplasm. Nucleus, nucleolus. Cytoplasm, Stress granule. Note=Relocalizes to cytoplasmic stress granules upon cellular stress. {ECO:0000269 PubMed:31703097}.

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 ENDOV gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ENDOV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005730 nucleolus IBA,IDA 23139746
GO:0005737 cytoplasm IBA,IDA 23139746
GO:0010494 cytoplasmic stress granule IEA --
genes like me logo Genes that share ontologies with ENDOV: view

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

Pathways & Interactions for ENDOV Gene

PathCards logo

SuperPathways for ENDOV Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENDOV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA,ISS --
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
GO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA --
genes like me logo Genes that share ontologies with ENDOV: view

No data available for Pathways by source and SIGNOR curated interactions for ENDOV Gene

Drugs & Compounds for ENDOV Gene

No Compound Related Data Available

Transcripts for ENDOV Gene

mRNA/cDNA for ENDOV Gene

5 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ENDOV

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

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10 ^
SP1: - - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - - - - - - - - - - -
SP4: - - - - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - - - - - -
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - - - - - - - -
SP9: - - - - - - - - - - - -
SP10: - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - -
SP14: - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - - - - -
SP17: - - - - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - - - - - - - - - - - - -
SP20: - - - - - - - - - - - -
SP21: - - - - - - - - - - - -
SP22: - - - - - - - - - -
SP23: - - - - - -
SP24: -
SP25: - - - - -

ExUns: 11 ^ 12a · 12b · 12c · 12d ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16a · 16b · 16c
SP1: - - -
SP2: - - -
SP3: - -
SP4: - - -
SP5: -
SP6: - -
SP7: - - -
SP8: - -
SP9: - -
SP10: -
SP11: - - - - - -
SP12: - - - -
SP13:
SP14: -
SP15: - - - - - - -
SP16:
SP17:
SP18:
SP19: - - - - - -
SP20:
SP21:
SP22:
SP23:
SP24:
SP25:

Relevant External Links for ENDOV Gene

GeneLoc Exon Structure for
ENDOV

Expression for ENDOV Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ENDOV Gene

Protein differential expression in normal tissues from HIPED for ENDOV Gene

This gene is overexpressed in Neutrophil (21.4), Monocytes (20.5), Tlymphocyte (15.7), and Peripheral blood mononuclear cells (11.4).

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



Protein tissue co-expression partners for ENDOV Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ENDOV

SOURCE GeneReport for Unigene cluster for ENDOV Gene:

Hs.728933

Evidence on tissue expression from TISSUES for ENDOV Gene

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

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENDOV Gene

Orthologs for ENDOV Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ENDOV Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ENDOV 29 30
  • 94.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ENDOV 29 30
  • 84.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Endov 29 16 30
  • 82.49 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ENDOV 30
  • 71 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ENDOV 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ENDOV 29 30
  • 70.19 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ENDOV 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia endov 29
  • 63.16 (n)
Str.16545 29
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G31150 29
  • 52.52 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0663600 29
  • 54.69 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 38 (a)
OneToOne
Species where no ortholog for ENDOV was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ENDOV Gene

ENSEMBL:
Gene Tree for ENDOV (if available)
TreeFam:
Gene Tree for ENDOV (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ENDOV: view image
Alliance of Genome Resources:
Additional Orthologs for ENDOV

Paralogs for ENDOV Gene

No data available for Paralogs for ENDOV Gene

Variants for ENDOV Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ENDOV Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs41299812 Benign: not provided 80,423,537(+) C/Tp.His141Tyr
NM_173627.5(ENDOV):c.421C>T (p.His141Tyr)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
rs34933300 -- p.Arg112Gln
rs35549084 -- p.Val29Ile
rs35929621 -- p.Asp201Asn
rs41298706 -- p.Lys114Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ENDOV Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv24254 CNV gain+loss 19812545
esv3641376 CNV loss 21293372
nsv524479 CNV loss 19592680

Variation tolerance for ENDOV Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.36; 76.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENDOV Gene

Human Gene Mutation Database (HGMD)
ENDOV
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ENDOV
Leiden Open Variation Database (LOVD)
ENDOV

SNP Genotyping and Copy Number Assays for research

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

Disorders for ENDOV Gene

MalaCards: The human disease database

(1) MalaCards diseases for ENDOV Gene - From: COP

Disorder Aliases PubMed IDs
xeroderma pigmentosum, variant type
  • xpv
- elite association - COSMIC cancer census association via MalaCards
Search ENDOV in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENDOV

genes like me logo Genes that share disorders with ENDOV: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ENDOV Gene

Publications for ENDOV Gene

  1. Regulation of Human Endonuclease V Activity and Relocalization to Cytoplasmic Stress Granules. (PMID: 27573237) Nawaz MS … Alseth I (The Journal of biological chemistry 2016) 3 4
  2. Human endonuclease V is a ribonuclease specific for inosine-containing RNA. (PMID: 23912718) Morita Y … Kuraoka I (Nature communications 2013) 3 4
  3. Endonuclease V cleaves at inosines in RNA. (PMID: 23912683) Vik ES … Alseth I (Nature communications 2013) 3 4
  4. The human homolog of Escherichia coli endonuclease V is a nucleolar protein with affinity for branched DNA structures. (PMID: 23139746) Fladeby C … Alseth I (PloS one 2012) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for ENDOV Gene

Sources for ENDOV Gene