EXO1 (exonuclease 1)

2003-02-01  

Identity

HGNC
EXO1
LOCATION
1q43
LOCUSID
9156
ALIAS
HEX1,hExoI

Other Information

Locus ID:

NCBI: 9156
MIM: 606063
HGNC: 3511
Ensembl: ENSG00000174371

Variants:

dbSNP: 9156
ClinVar: 9156
TCGA: ENSG00000174371
COSMIC: EXO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174371ENST00000348581Q9UQ84
ENSG00000174371ENST00000366548Q9UQ84
ENSG00000174371ENST00000423131Q5T397
ENSG00000174371ENST00000437497Q5T398
ENSG00000174371ENST00000450748Q5T399
ENSG00000174371ENST00000518483Q9UQ84
ENSG00000174371ENST00000519225E5RHK1
ENSG00000174371ENST00000521202H0YAZ2
ENSG00000174371ENST00000523590E5RGY3

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Mismatch repairKEGGko03430
Mismatch repairKEGGhsa03430
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
Mismatch RepairREACTOMER-HSA-5358508
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)REACTOMER-HSA-5358565
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)REACTOMER-HSA-5358606
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Homologous DNA Pairing and Strand ExchangeREACTOMER-HSA-5693579
Presynaptic phase of homologous DNA pairing and strand exchangeREACTOMER-HSA-5693616
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)REACTOMER-HSA-5693554
HDR through Single Strand Annealing (SSA)REACTOMER-HSA-5685938
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD
PA445058Neoplasm MetastasisDiseaseClinicalAnnotationassociatedPD
PA448771capecitabineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
213251342011BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.301
189713432008Human exonuclease 1 and BLM helicase interact to resect DNA and initiate DNA repair.152
161952372006Polymorphisms of DNA repair genes and risk of non-small cell lung cancer.112
214966422011Structures of human exonuclease 1 DNA complexes suggest a unified mechanism for nuclease family.86
118097712002Human exonuclease I is required for 5' and 3' mismatch repair.82
200190632010Phosphorylation of Exo1 modulates homologous recombination repair of DNA double-strand breaks.80
223262732012Exo1 plays a major role in DNA end resection in humans and influences double-strand break repair and damage signaling decisions.76
247050212014Phosphorylation of EXO1 by CDKs 1 and 2 regulates DNA end resection and repair pathway choice.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
210520912010DNA end resection by CtIP and exonuclease 1 prevents genomic instability.59

Citation

Dessen P

EXO1 (exonuclease 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40512/exo1