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EXO1 exonuclease 1 [ Homo sapiens (human) ]

Gene ID: 9156, updated on 13-Sep-2014
Official Symbol
EXO1provided by HGNC
Official Full Name
exonuclease 1provided by HGNC
Primary source
HGNC:HGNC:3511
Locus tag
RP11-553N16.2
See related
Ensembl:ENSG00000174371; HPRD:06932; MIM:606063; Vega:OTTHUMG00000039965
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HEX1; hExoI
Summary
This gene encodes a protein with 5' to 3' exonuclease activity as well as an RNase H activity. It is similar to the Saccharomyces cerevisiae protein Exo1 which interacts with Msh2 and which is involved in mismatch repair and recombination. Alternative splicing of this gene results in three transcript variants encoding two different isoforms. [provided by RefSeq, Jul 2008]
See EXO1 in Epigenomics, MapViewer
Location:
1q42-q43
Exon count:
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (241848189..241889939)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (242011491..242053241)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene WD repeat domain 64 Neighboring gene ribosomal protein L6 pseudogene 3 Neighboring gene ribosomal protein L23a pseudogene 20 Neighboring gene beclin 1, autophagy related, pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
NHGRI GWA Catalog
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Mismatch Repair, organism-specific biosystem (from REACTOME)
    Mismatch Repair, organism-specific biosystemThe mismatch repair (MMR) system corrects single base mismatches and small insertion and deletion loops (IDLs) of unpaired bases. MMR is primarily associated with DNA replication and is highly conser...
  • Mismatch repair, organism-specific biosystem (from WikiPathways)
    Mismatch repair, organism-specific biosystemDNA mismatch repair is a system for recognizing and repairing erroneous insertion, deletion and mis-incorporation of bases that can arise during DNA replication and recombination, as well as repairin...
  • Mismatch repair, organism-specific biosystem (from KEGG)
    Mismatch repair, organism-specific biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
  • Mismatch repair, conserved biosystem (from KEGG)
    Mismatch repair, conserved biosystemDNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preven...
  • Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystem (from REACTOME)
    Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta), organism-specific biosystemMSH2:MSH3 (MutSbeta) binds unpaired loops of 2 or more nucleotides (Palombo et al. 1996, Genschel et al. 1998). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta) and an imbala...
  • Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystem (from REACTOME)
    Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha), organism-specific biosystemMSH2:MSH6 (MutSalpha) binds single base mismatches and unpaired loops of 1-2 nucleotides (reviewed in Edelbrock et al. 2013). Human cells contain about 6-fold more MSH2:MSH6 than MSH2:MSH3 (MutSbeta)...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' exodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
5'-3' exonuclease activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA-DNA hybrid ribonuclease activity TAS
Traceable Author Statement
more info
PubMed 
double-stranded DNA 5'-3' exodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
exonuclease activity TAS
Traceable Author Statement
more info
PubMed 
flap endonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA 5'-3' exodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
structure-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
DNA catabolic process, endonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
DNA catabolic process, exonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
DNA recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
RNA phosphodiester bond hydrolysis, endonucleolytic TAS
Traceable Author Statement
more info
PubMed 
humoral immune response mediated by circulating immunoglobulin IEA
Inferred from Electronic Annotation
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
meiotic nuclear division IEA
Inferred from Electronic Annotation
more info
 
mismatch repair IDA
Inferred from Direct Assay
more info
PubMed 
mismatch repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
mismatch repair IPI
Inferred from Physical Interaction
more info
PubMed 
mismatch repair ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
nucleic acid phosphodiester bond hydrolysis TAS
Traceable Author Statement
more info
PubMed 
somatic hypermutation of immunoglobulin genes IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
exonuclease 1
Names
exonuclease 1
hExo1
rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029100.1 

    Range
    5001..46749
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003686.4NP_003677.4  exonuclease 1 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 3' end of the coding region, resulting in a frameshift and use of an upstream stop codon, as compared to variant 1. It encodes isoform a, which is 43 aa shorter than isoform b.
    Source sequence(s)
    AL365366, BC007491, CA430743
    Consensus CDS
    CCDS44336.1
    UniProtKB/Swiss-Prot
    Q9UQ84
    Related
    ENSP00000430251, OTTHUMP00000037879, ENST00000518483, OTTHUMT00000096406
    Conserved Domains (3) summary
    cd09908
    Location:213289
    H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09857
    Location:1206
    PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR03674
    Location:1308
    fen_arch; flap structure-specific endonuclease
  2. NM_006027.4NP_006018.4  exonuclease 1 isoform b

    See proteins identical to NP_006018.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (b).
    Source sequence(s)
    AL365366, BC007491, CA430743
    Consensus CDS
    CCDS1620.1
    UniProtKB/Swiss-Prot
    Q9UQ84
    Related
    ENSP00000311873, ENST00000348581
    Conserved Domains (3) summary
    cd09908
    Location:213289
    H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09857
    Location:1206
    PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR03674
    Location:1308
    fen_arch; flap structure-specific endonuclease
  3. NM_130398.3NP_569082.2  exonuclease 1 isoform b

    See proteins identical to NP_569082.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes a unique exon in its 5' UTR, as compared to variant 1. Both variants 1 and 2 encode isoform b.
    Source sequence(s)
    AL365366, BC007491, CA430743, CN348533, DA661516
    Consensus CDS
    CCDS1620.1
    UniProtKB/Swiss-Prot
    Q9UQ84
    Related
    ENSP00000355506, OTTHUMP00000037878, ENST00000366548, OTTHUMT00000096405
    Conserved Domains (3) summary
    cd09908
    Location:213289
    H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09857
    Location:1206
    PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR03674
    Location:1308
    fen_arch; flap structure-specific endonuclease

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    241848189..241889939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273350.1XP_005273407.1  

    Conserved Domains (3) summary
    cd09908
    Location:213289
    H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09857
    Location:1206
    PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR03674
    Location:1308
    fen_arch; flap structure-specific endonuclease
  2. XM_006711840.1XP_006711903.1  

    See proteins identical to XP_006711903.1

    UniProtKB/Swiss-Prot
    Q9UQ84
    Conserved Domains (3) summary
    cd09908
    Location:213289
    H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09857
    Location:1206
    PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR03674
    Location:1308
    fen_arch; flap structure-specific endonuclease

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    212470280..212512011
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    243284062..243325806
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)