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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
  • Exonuclease V 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
  • 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. Gene Ontology (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

GeneHancer (GH) Regulatory Elements for EXO5 Gene

Promoters and enhancers for EXO5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J040508 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 609 -0.1 -118 3.2 ZFX NKRF POLR2A ZNF121 ZNF687 ZSCAN21 TFE3 YY1 SP7 ZNF174 ENSG00000238287 EXO5 LOC105378672 ZNF684 PPIEL ZFP69 ENSG00000259943 NFYC-AS1 PPIE GC01P040495
GH01J040256 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 100.5 -250.7 -250706 3.6 ZNF652 SP1 CC2D1A ZFX ELF3 SIX5 ZNF148 NKRF POLR2A MLLT1 ENSG00000259943 ZMPSTE24 PPIE EXO5 PPIEL TRIT1 RLF NFYC-AS1 NFYC PABPC4-AS1
GH01J040372 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 46 -132.9 -132866 5.9 ZNF473 ZFX SP1 ELF3 ZNF148 NKRF MLLT1 POLR2A GTF2F1 ZSCAN21 SMAP2 PPIEL PPIE TRIT1 EXO5 ENSG00000259943 NFYC-AS1 RLF NFYC ZFP69
GH01J040708 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 45.4 +202.5 202519 6.1 SP1 CC2D1A ELF3 SIX5 ZNF148 POLR2A MLLT1 ZNF121 RERE GTF2F1 NFYC EXO5 RLF RIMS3 TRIT1 ENSG00000237899 NFYC-AS1 MIR30E MIR30C1 ENSG00000238287
GH01J040095 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.5 -411.9 -411919 2.8 ELF3 MNT CBFA2T2 NKRF POLR2A GTF2F1 CSDE1 ZNF687 NFRKB AHR PPT1 PPIE EXO5 TRIT1 PPIEL PABPC4 RLF NFYC SMAP2 CAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXO5 on UCSC Golden Path with GeneCards custom track

Genomic Locations for EXO5 Gene

Genomic Locations for EXO5 Gene
chr1:40,508,719-40,517,725
(GRCh38/hg38)
Size:
9,007 bases
Orientation:
Plus strand
chr1:40,974,413-40,982,228
(GRCh37/hg19)
Size:
7,816 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=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883;
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    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.

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:
  • Defects in morphology protein 1 homolog (EXO5_HUMAN)

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

Clone Products

  • Applied Biological Materials (abm): Clones for EXO5 - Now 50% OFF >
  • * EXO5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EXO5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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
mitochondrion 1
plasma membrane 0
peroxisome 0
endoplasmic reticulum 0

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 IBA,IDA 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

PathCards logo

SuperPathways for EXO5 Gene

No Data Available

Interacting Proteins for EXO5 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000361788%0d9606.ENSP00000254719%0d
Selected Interacting proteins: Q9H790-EXO5_HUMAN ENSP00000361788 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 IBA,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

Clone Products

  • Applied Biological Materials (abm): Clones for EXO5 - Now 50% OFF >
  • * EXO5 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * EXO5 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

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 35 34
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EXO5 35 34
  • 87.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EXO5 35 34
  • 85.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Exo5 17 35 34
  • 85.17 (n)
rat
(Rattus norvegicus)
Mammalia Exo5 34
  • 84.36 (n)
oppossum
(Monodelphis domestica)
Mammalia EXO5 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EXO5 35
  • 33 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii zgc:123272 34
  • 51.87 (n)
EXO5 35
  • 39 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU04450 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EXO5: view image

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 Variation AA Info Type
rs1000165673 -- 40,514,646(+) C/G coding_sequence_variant, synonymous_variant
rs1000365921 -- 40,508,699(+) G/C upstream_transcript_variant
rs1000501087 -- 40,513,196(+) T/G intron_variant
rs1000552022 -- 40,513,489(+) C/G intron_variant
rs1000714705 -- 40,507,464(+) C/A upstream_transcript_variant

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)

Additional Variant Information for EXO5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EXO5 Gene

Additional Disease Information for 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 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. (PMID: 29761480) Paumard-Hernández B … Benítez J (International journal of cancer 2018) 3 58
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 58
  5. 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 58

Products for EXO5 Gene

Sources for EXO5 Gene

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