EXO1 (exonuclease 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9156
Gene name Exonuclease 1
Gene symbol EXO1
Synonyms (NCBI Gene)
HEX1hExoI
Chromosome 1
Chromosome location 1q43
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 spl
SNPs SNP information provided by dbSNP.
2
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.
8
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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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 assayMicroarrayqRT-PCRWestern blotting 32454462
MIRT2222578 hsa-miR-3671 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
TCF3 Repression 19698732
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606063 3511 ENSG00000174371
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (30)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (102)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 10856833
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 21504893
★★★★★
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 24413054 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 28378638
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 28378638 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia Telangiectasia BEFREE 28515316
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 31174203
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 31174203
★★★★★
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 30588253
★★★★★
★☆☆☆☆
Found in Text Mining only