EXO1 (exonuclease 1)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9156
Gene name Gene Name - the full gene name approved by the HGNC.
Exonuclease 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EXO1
Synonyms (NCBI Gene) Gene synonyms aliases
HEX1, hExoI
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q43
Summary Summary of gene provided in NCBI Entrez Gene.
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 spl
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs4150000 G>A,C Conflicting-interpretations-of-pathogenicity Splice acceptor variant
rs750915959 C>- Likely-pathogenic Coding sequence variant, genic upstream transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT016312 hsa-miR-193b-3p Microarray 20304954
MIRT019671 hsa-miR-375 Microarray 20215506
MIRT044161 hsa-miR-30e-5p CLASH 23622248
MIRT735530 hsa-miR-1908-5p Luciferase reporter assay, Microarray, qRT-PCR, Western blotting 32454462
MIRT2222578 hsa-miR-3671 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
TCF3 Repression 19698732
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(51)
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002455 Process Humoral immune response mediated by circulating immunoglobulin IEA
GO:0003677 Function DNA binding IDA 11842105
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 9685493
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606063 3511 ENSG00000174371
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UQ84
Protein name Exonuclease 1 (hExo1) (EC 3.1.-.-) (Exonuclease I) (hExoI)
Protein function 5'->3' double-stranded DNA exonuclease which may also possess a cryptic 3'->5' double-stranded DNA exonuclease activity. Functions in DNA mismatch repair (MMR) to excise mismatch-containing DNA tracts directed by strand breaks located either 5'
PDB 3QE9 , 3QEA , 3QEB , 5UZV , 5V04 , 5V05 , 5V06 , 5V07 , 5V08 , 5V09 , 5V0A , 5V0B , 5V0C , 5V0D , 5V0E , 7MXQ , 7MXR , 7MXS , 7MXT , 7MXU , 7MXV , 7MXW , 7MXX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00752 XPG_N 1 → 99 XPG N-terminal domain Family
PF00867 XPG_I 138 → 225 XPG I-region Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in bone marrow, testis and thymus. Expressed at lower levels in colon, lymph nodes, ovary, placenta, prostate, small intestine, spleen and stomach. {ECO:0000269|PubMed:10856833, ECO:0000269|PubMed:9685493, ECO:0000269|
Sequence 
MGIQGLLQFIKEASEPIHVRKYKGQVVAVDTYCWLHKGAIACAEKLAKGEPTDRYVGFCM
KFVNMLLSHGIKPILVFDGCTLPSKKEVERSRRERRQANLLKGKQLLREGKVSEARECFT
RSINITHAMAHKVIKAARSQGVDCLVAPYEADAQLAYLNKAGIVQAIITEDSDLLAFGCK
KVILKMDQFGNGLEIDQARLGMCRQLGDVFTEEKFRYMCILSGCDYLSSLRGIGLAKACK
VLRLANNPDIVKVIKKIGHYLKMNITVPEDYINGFIRANNTFLYQLVFDPIKRKLIPLNA
YEDDVDPETLSYAGQYVDDSIALQIALGNKDINTFEQIDDYNPDTAMPAHSRSHSWDDKT
CQKSANVSSIWHRNYSPRPESGTVSDAPQLKENPSTVGVERVISTKGLNLPRKSSIVKRP
RSAELSEDDLLSQYSLSFTKKTKKNSSEGNKSLSFSEVFVPDLVNGPTNKKSVSTPPRTR
NKFATFLQRKNEESGAVVVPGTRSRFFCSSDSTDCVSNKVSIQPLDETAVTDKENNLHES
EYGDQEGKRLVDTDVARNSSDDIPNNHIPGDHIPDKATVFTDEESYSFESSKFTRTISPP
TLGTLRSCFSWSGGLGDFSRTPSPSPSTALQQFRRKSDSPTSLPENNMSDVSQLKSEESS
DDESHPLREEACSSQSQESGEFSLQSSNASKLSQCSSKDSDSEESDCNIKLLDSQSDQTS
KLRLSHFSKKDTPLRNKVPGLYKSSSADSLSTTKIKPLGPARASGLSKKPASIQKRKHHN
AENKPGLQIKLNELWKNFGFKKDSEKLPPCKKPLSPVRDNIQLTPEAEEDIFNKPECGRV
QRAIFQ
Sequence length 846
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Mismatch repair   Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast cancer Breast cancer N/A N/A GWAS
Carcinoma Basal cell carcinoma N/A N/A GWAS
Lynch Syndrome Lynch syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (45)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acquired ichthyosis Associate 35413094
Adenocarcinoma of Lung Associate 35204661, 35810236, 36275753, 36971680
Adenoma Associate 21504893
Alternating hemiplegia of childhood Associate 24413054
Arrest of spermatogenesis Associate 35413094
Astrocytoma Associate 28378638
Breast Neoplasms Associate 19846925, 24147022, 30947698, 34646403, 37592220, 40433389
Carcinoma Hepatocellular Associate 27894089, 30328366, 35030478, 36753968
Carcinoma Non Small Cell Lung Associate 23006423, 28186269
Carcinoma Squamous Cell Associate 32685473