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Aliases for EXO5 Gene

Aliases for EXO5 Gene

  • Exonuclease 5 2 3 5
  • Defects In Morphology Protein 1 Homolog 3 4
  • C1orf176 3 4
  • Exo V 3 4
  • HExo5 3 4
  • DEM1 3 4
  • Defects In Morphology 1 Homolog (S. Cerevisiae) 2
  • Chromosome 1 Open Reading Frame 176 2
  • Defects In Morphology 1 Homolog 3
  • Probable Exonuclease V 3
  • Exonuclease V 3
  • EC 3.1.-.- 4

External Ids for EXO5 Gene

Previous HGNC Symbols for EXO5 Gene

  • C1orf176
  • DEM1

Previous GeneCards Identifiers for EXO5 Gene

  • GC01P040975

Summaries for EXO5 Gene

Entrez Gene Summary for EXO5 Gene

  • The protein encoded by this gene is a single-stranded DNA (ssDNA)-specific exonuclease that can slide along the DNA before cutting it. However, human replication protein A binds ssDNA and restricts sliding of the encoded protein, providing a 5'-directionality to the enzyme. This protein localizes to nuclear repair loci after DNA damage. [provided by RefSeq, Nov 2016]

GeneCards Summary for EXO5 Gene

EXO5 (Exonuclease 5) is a Protein Coding gene. GO annotations related to this gene include protein homodimerization activity and single-stranded DNA 3-5 exodeoxyribonuclease activity.

UniProtKB/Swiss-Prot for EXO5 Gene

  • Single-stranded DNA (ssDNA) bidirectional exonuclease involved in DNA repair. Probably involved in DNA repair following ultraviolet (UV) irradiation and interstrand cross-links (ICLs) damage. Has both 5-3 and 3-5 exonuclease activities with a strong preference for 5-ends. Acts as a sliding exonuclease that loads at ssDNA ends and then slides along the ssDNA prior to cutting; however the sliding and the 3-5 exonuclease activities are abolished upon binding to the replication protein A (RPA) complex that enforces 5-directionality activity.

Additional gene information for EXO5 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EXO5 Gene

Genomics for EXO5 Gene

Regulatory Elements for EXO5 Gene

Enhancers for EXO5 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
GH01H040256 1.2 ENCODE 76.8 -251.0 -251011 2 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZC3H11A ZFP41 PPIE PPIEL EXO5 TRIT1 ENSG00000259943 RLF NFYC-AS1 LOC105378672 ENSG00000182109 COL9A2
GH01H040372 1.8 FANTOM5 ENCODE dbSUPER 46 -132.9 -132867 5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 ZNF766 PPIEL PPIE TRIT1 EXO5 SMAP2 ENSG00000259943 ENSG00000182109 RLF NFYC-AS1 LOC105378674
GH01H041492 2 FANTOM5 Ensembl ENCODE dbSUPER 35.1 +990.0 990003 12 ARNT ZNF2 ZNF143 ZNF548 FOS SP3 REST SMARCB1 ZNF592 SMARCA4 EXO5 FOXJ3 EDN2 ENSG00000230881 LOC100418723 SCMH1 RIMS3 LOC101929901 GC01M041492 GC01M041516
GH01H040708 1.7 FANTOM5 ENCODE dbSUPER 35.6 +202.5 202520 6 PKNOX1 FOXA2 ARNT SIN3A ARID4B FEZF1 DMAP1 YY1 SLC30A9 ZNF143 EXO5 RLF RIMS3 LOC105378674 MIR30E MIR30C1 TRIT1 ZFP69 NFYC KCNQ4
GH01H040055 1.6 Ensembl ENCODE dbSUPER 34.5 -450.0 -450028 6 HDGF PKNOX1 FOXA2 ARNT ARID4B ZNF766 JUNB SMARCB1 ZNF592 MEF2D EXO5 PPT1 TRIT1 PPIE PPIEL RLF LOC105378668 ENSG00000202222 CAP1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EXO5 on UCSC Golden Path with GeneCards custom track

Promoters for EXO5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005219 -18 1400 HDGF MLX ARID4B SIN3A DMAP1 BRCA1 ZNF2 YY1 ZNF121 SLC30A9

Genomic Location for EXO5 Gene

Chromosome:
1
Start:
40,508,719 bp from pter
End:
40,517,725 bp from pter
Size:
9,007 bases
Orientation:
Plus strand

Genomic View for EXO5 Gene

Genes around EXO5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXO5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXO5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXO5 Gene

Proteins for EXO5 Gene

  • Protein details for EXO5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H790-EXO5_HUMAN
    Recommended name:
    Exonuclease V
    Protein Accession:
    Q9H790
    Secondary Accessions:
    • D3DPV4
    • Q5SWM7
    • Q5SWM8
    • Q5SWM9
    • Q5SWN0
    • Q5SWN1
    • Q8WTW9

    Protein attributes for EXO5 Gene

    Size:
    373 amino acids
    Molecular mass:
    41816 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Quaternary structure:
    • Monomer; monomeric form has weak exonuclease activity. Homodimer; homodimeric form is unsure but has much higher exonuclease activity, suggesting that it could homodimerize upon DNA-binding. Interacts with the replication protein A (RPA) complex.
    SequenceCaution:
    • Sequence=CAI16298.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16299.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16300.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16301.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16302.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for EXO5 Gene

Post-translational modifications for EXO5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EXO5 Gene

Domains & Families for EXO5 Gene

Gene Families for EXO5 Gene

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

Protein Domains for EXO5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EXO5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H790

UniProtKB/Swiss-Prot:

EXO5_HUMAN :
  • Belongs to the EXO5 family.
Family:
  • Belongs to the EXO5 family.
genes like me logo Genes that share domains with EXO5: view

Function for EXO5 Gene

Molecular function for EXO5 Gene

UniProtKB/Swiss-Prot Function:
Single-stranded DNA (ssDNA) bidirectional exonuclease involved in DNA repair. Probably involved in DNA repair following ultraviolet (UV) irradiation and interstrand cross-links (ICLs) damage. Has both 5-3 and 3-5 exonuclease activities with a strong preference for 5-ends. Acts as a sliding exonuclease that loads at ssDNA ends and then slides along the ssDNA prior to cutting; however the sliding and the 3-5 exonuclease activities are abolished upon binding to the replication protein A (RPA) complex that enforces 5-directionality activity.

Enzyme Numbers (IUBMB) for EXO5 Gene

Phenotypes From GWAS Catalog for EXO5 Gene

Gene Ontology (GO) - Molecular Function for EXO5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0004518 nuclease activity IEA --
GO:0004527 exonuclease activity IEA --
GO:0008310 single-stranded DNA 3-5 exodeoxyribonuclease activity TAS 23095756
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with EXO5: view
genes like me logo Genes that share phenotypes with EXO5: view

Animal Model Products

CRISPR Products

miRNA for EXO5 Gene

miRTarBase miRNAs that target EXO5

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EXO5
  • 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 EXO5 Gene

Localization for EXO5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXO5 Gene

Nucleus. Cytoplasm, cytosol. Note=Localizes to repair foci in response to DNA damage.

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 EXO5 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXO5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 23095756
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA 23095756
genes like me logo Genes that share ontologies with EXO5: view

Pathways & Interactions for EXO5 Gene

No Data Available

Interacting Proteins for EXO5 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000296380%0d%0a9606.ENSP00000254719%0d%0a
Selected Interacting proteins: Q9H790-EXO5_HUMAN ENSP00000296380 for EXO5 Gene via IID STRING

Gene Ontology (GO) - Biological Process for EXO5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006259 DNA metabolic process IEA --
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair IMP 23095756
GO:0090305 nucleic acid phosphodiester bond hydrolysis IEA --
genes like me logo Genes that share ontologies with EXO5: view

No data available for Pathways by source and SIGNOR curated interactions for EXO5 Gene

Drugs & Compounds for EXO5 Gene

No Compound Related Data Available

Transcripts for EXO5 Gene

Unigene Clusters for EXO5 Gene

Exonuclease 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EXO5
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for EXO5 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i · 1j · 1k ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d · 4e · 4f · 4g · 4h · 4i
SP1: -
SP2: - -
SP3: - -
SP4: - - -
SP5: - - -
SP6: - - - - -
SP7: - -
SP8: - - - -
SP9: - - - - - -
SP10:
SP11: - - - - -

Relevant External Links for EXO5 Gene

GeneLoc Exon Structure for
EXO5
ECgene alternative splicing isoforms for
EXO5

Expression for EXO5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EXO5 Gene

Protein differential expression in normal tissues from HIPED for EXO5 Gene

This gene is overexpressed in CD4 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXO5 Gene



Protein tissue co-expression partners for EXO5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EXO5 Gene:

EXO5

SOURCE GeneReport for Unigene cluster for EXO5 Gene:

Hs.59584
genes like me logo Genes that share expression patterns with EXO5: view

Primer Products

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EXO5 Gene

Orthologs for EXO5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for EXO5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEM1 34 33
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EXO5 33 34
  • 87.24 (n)
cow
(Bos Taurus)
Mammalia EXO5 33 34
  • 85.63 (n)
mouse
(Mus musculus)
Mammalia Exo5 33 16 34
  • 85.17 (n)
rat
(Rattus norvegicus)
Mammalia Exo5 33
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia EXO5 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXO5 34
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:123272 33
  • 51.87 (n)
EXO5 34
  • 39 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04450 33
  • 45.5 (n)
Species where no ortholog for EXO5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EXO5 Gene

ENSEMBL:
Gene Tree for EXO5 (if available)
TreeFam:
Gene Tree for EXO5 (if available)

Paralogs for EXO5 Gene

No data available for Paralogs for EXO5 Gene

Variants for EXO5 Gene

Sequence variations from dbSNP and Humsavar for EXO5 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000165673 -- 40,514,646(+) GATGC(C/G)CAAGA reference, synonymous-codon
rs1000365921 -- 40,508,699(+) GCGAG(C/G)GCCTC upstream-variant-2KB
rs1000501087 -- 40,513,196(+) TTCTA(G/T)AATAT intron-variant
rs1000552022 -- 40,513,489(+) TTGTT(C/G)CTACA intron-variant
rs1000714705 -- 40,507,464(+) ATGAG(A/C)CACCA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for EXO5 Gene

Variant ID Type Subtype PubMed ID
dgv10n111 CNV deletion 26073780
esv3577818 CNV loss 25503493
esv3585807 CNV loss 21293372
esv3585808 CNV loss 21293372
nsv1160834 CNV deletion 26073780
nsv546064 CNV gain 21841781

Variation tolerance for EXO5 Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.37; 76.91% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EXO5 Gene

Human Gene Mutation Database (HGMD)
EXO5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXO5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXO5 Gene

Disorders for EXO5 Gene

Relevant External Links for EXO5

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EXO5

No disorders were found for EXO5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EXO5 Gene

Publications for EXO5 Gene

  1. Human exonuclease 5 is a novel sliding exonuclease required for genome stability. (PMID: 23095756) Sparks JL … Burgers PM (The Journal of biological chemistry 2012) 2 3 4 60
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P … Vidal M (Genomics 2007) 3 60
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 60
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 60

Products for EXO5 Gene

Sources for EXO5 Gene

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