Format

Send to:

Choose Destination

EXO1 exonuclease 1 [ Homo sapiens (human) ]

Gene ID: 9156, updated on 1-Aug-2020

Summary

Official Symbol
EXO1provided by HGNC
Official Full Name
exonuclease 1provided by HGNC
Primary source
HGNC:HGNC:3511
See related
Ensembl:ENSG00000174371 MIM:606063
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]
Expression
Biased expression in bone marrow (RPKM 3.9), testis (RPKM 2.9) and 13 other tissues See more
Orthologs

Genomic context

See EXO1 in Genome Data Viewer
Location:
1q43
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (241847967..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 uncharacterized LOC105373231 Neighboring gene ribosomal protein L6 pseudogene 3 Neighboring gene ribosomal protein L23a pseudogene 20 Neighboring gene beclin 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
5'-3' exodeoxyribonuclease activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
5'-3' exonuclease activity TAS
Traceable Author Statement
more info
 
5'-flap endonuclease activity IBA
Inferred from Biological aspect of Ancestor
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 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
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 IBA
Inferred from Biological aspect of Ancestor
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 
Process Evidence Code Pubs
DNA recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
RNA phosphodiester bond hydrolysis, endonucleolytic IEA
Inferred from Electronic Annotation
more info
 
humoral immune response mediated by circulating immunoglobulin IEA
Inferred from Electronic Annotation
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
mismatch repair TAS
Traceable Author Statement
more info
 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
somatic hypermutation of immunoglobulin genes IEA
Inferred from Electronic Annotation
more info
 
t-circle formation TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
exonuclease 1
Names
rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1

NCBI Reference Sequences (RefSeq)

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_029100.2 RefSeqGene

    Range
    5014..46749
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001319224.1NP_001306153.1  exonuclease 1 isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is 1 aa shorter compared to isoform b.
    Source sequence(s)
    AK291291, AL365366, CA430743, DA479425
    UniProtKB/TrEMBL
    A8K5H6
    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_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
    ENSP00000430251.1, ENST00000518483.5
    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_006027.4NP_006018.4  exonuclease 1 isoform b

    See identical proteins and their annotated locations for NP_006018.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (b). Both variants 1 and 2 encode isoform b.
    Source sequence(s)
    AL365366, BC007491, CA430743
    Consensus CDS
    CCDS1620.1
    UniProtKB/Swiss-Prot
    Q9UQ84
    Related
    ENSP00000311873.5, ENST00000348581.9
    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
  4. NM_130398.4NP_569082.2  exonuclease 1 isoform b

    See identical proteins and their annotated locations for 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
    ENSP00000355506.3, ENST00000366548.8
    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 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    241847967..241889939
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544322.1XP_011542624.1  exonuclease 1 isoform X1

    See identical proteins and their annotated locations for XP_011542624.1

    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
  2. XM_006711840.2XP_006711903.1  exonuclease 1 isoform X1

    See identical proteins and their annotated locations for 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
  3. XM_011544323.2XP_011542625.1  exonuclease 1 isoform X2

    See identical proteins and their annotated locations for XP_011542625.1

    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
  4. XM_011544324.2XP_011542626.1  exonuclease 1 isoform X3

    Conserved Domains (3) summary
    cd09908
    Location:173249
    H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09857
    Location:1166
    PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR03674
    Location:1268
    fen_arch; flap structure-specific endonuclease
  5. XM_011544321.2XP_011542623.1  exonuclease 1 isoform X1

    See identical proteins and their annotated locations for XP_011542623.1

    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
  6. XM_017002793.2XP_016858282.1  exonuclease 1 isoform X3

    Conserved Domains (3) summary
    cd09908
    Location:173249
    H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease
    cd09857
    Location:1166
    PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs
    TIGR03674
    Location:1268
    fen_arch; flap structure-specific endonuclease
  7. XM_011544325.2XP_011542627.1  exonuclease 1 isoform X4

Support Center