EXO1 - exonuclease 1 Gene

Homo sapiens

Also known as HEX1; hExoI

Gene ID: 9156 | Gene type: protein coding

About EXO1

Cytogenetic location: 1q43 Genomic coordinates (GRCh38): 1:241,847,986-241,889,939 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues and 2 paralogues. Biased expression in bone marrow (RPKM 3.9), testis (RPKM 2.9) and 13 other tissues.

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]

EXO1 Products(4)

mRNA	Protein	Name
NM_001319224.2	NP_001306153.1	exonuclease 1 isoform c
NM_003686.4	NP_003677.4	exonuclease 1 isoform a
NM_006027.4	NP_006018.4	exonuclease 1 isoform b
NM_130398.4	NP_569082.2	exonuclease 1 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 5'-3' DNA exonuclease activity	IDA IDA: Inferred from direct assay	10608837	GOA
enables DNA binding	IDA IDA: Inferred from direct assay	11842105	GOA
enables double-stranded DNA 5'-3' DNA exonuclease activity	IDA IDA: Inferred from direct assay	10608837	GOA
enables flap endonuclease activity	IDA IDA: Inferred from direct assay	10608837	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	2414623	GOA
enables single-stranded DNA 5'-3' DNA exonuclease activity	IDA IDA: Inferred from direct assay	10608837	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA recombination	IGI IGI: Inferred from genetic interaction	10364235	GOA
involved in DNA strand resection involved in replication fork processing	IMP IMP: Inferred from mutant phenotype	26240375	GOA
involved in mismatch repair	IDA IDA: Inferred from direct assay	14636568	GOA
involved in mismatch repair	IMP IMP: Inferred from mutant phenotype	11809771	GOA
involved in mismatch repair	IPI IPI: Inferred from physical interaction	9788596	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	11429708	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EXO1 Protein Structure

XPG_N

XPG_I

0
200
400
600
800
846 a.a.

Protein Preferred Names

Protein Names

exonuclease 1

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

EXO1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EXO1	Q9UQ84	RBBP8	Homo sapiens	Q99708	Anti Bait CoIP	21052091

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Werner Syndrome

Werner'S Syndrome	WRN
Adult Progeria	Ws
Adult Premature Ageing Syndrome	Adult Premature Aging Syndrome
Werners Syndrome

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome	Cree Encephalitis
Aicardi-Goutières Syndrome	Encephalopathy With Basal Ganglia Calcification
Ags	Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid
Pseudotoxoplasmosis Syndrome	Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis
Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis	Aicardi-Goutieres Syndrome 1

Lynch Syndrome

Hereditary Nonpolyposis Colon Cancer	Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Carcinoma	Hereditary Nonpolyposis Colorectal Neoplasms
Familial Nonpolyposis Colon Cancer	Hnpcc
Coca 1	Hereditary Defective Mismatch Repair Syndrome
Hereditary Non-Polyposis Colon Cancer	Hereditary Non-Polyposis Colon Cancer Syndrome
Hereditary Non-Polyposis Colorectal Cancer	Hereditary Non-Polyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colon Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome
Hereditary Nonpolyposis Colorectal Neoplasm	Hnpcc - Hereditary Nonpolyposis Colon Cancer
Cancer Family Syndrome	Familial Nonpolyposis Colorectal Cancer
Colon Cancer, Familial Nonpolyposis	Colorectal Neoplasms, Hereditary Nonpolyposis
Cancer, Colorectal, Nonpolyposis, Hereditary	Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Chilblain Lupus 1

Chilblain Lupus	CHBL1
Chilblain Lupus Erythematosus	Chle
Hutchinson Lupus	Chilblain Lupus, Type 1

Mismatch Repair Cancer Syndrome

Turcot Syndrome	Brain Tumor-Polyposis Syndrome 1
Btp1 Syndrome	Btps1
Childhood Cancer Syndrome	Cmmr-D Syndrome
Cmmrds	Constitutional Mismatch Repair Deficiency Syndrome
Mmr Deficiency	Cancer Syndrome, Mismatch Repair
Malignant Childhood Neoplasm

Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations

Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Crv
Rvcl	Rvcl-S
Vasculopathy, Retinal, With Cerebral Leukodystrophy	Retinopathy, Vascular, With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena
Retinal Vasculopathy With Cerebral Leukodystrophy	Retinal Vasculopathy And Cerebral Leukoencephalopathy
Hereditary Vascular Retinopathy	Hvr
RVCLS	Cerebroretinal Vasculopathy, Hereditary
Cerebroretinal Vasculopathy	Herns
Vasculopathy, Retinal, With Cerebral Leukodystrophy, Formerly	Hereditary Cerebroretinal Vasculopathy
Hereditary Endotheliopathy, Retinopathy, Nephropathy, Stroke	Hereditary Systemic Angiopathy
Hsa	Retinal Vasculopathy With Cerebral Leukodystrophy With Systemic Manifestations
Adrvcl	Autosomal Dominant Retinal Vasculopathy With Cerebral Leukodystrophy
Hereditary Endotheliopathy With Retinopathy-Nephropathy-Stroke	Vascular Retinopathy With Cerebral And Renal Involvement And Raynaud And Migraine Phenomena

Xeroderma Pigmentosum, Complementation Group G

Xeroderma Pigmentosum, Group G	Xeroderma Pigmentosum Vii
Xp7	XPG
Xeroderma Pigmentosum Group G	Xp Group G
Xp, Group G	Xpgc
Xeroderma Pigmentosum, Group G/Cockayne Syndrome	Xeroderma Pigmentosum, Type 7
Xeroderma Pigmentosum Complementation Group G	XP-G
Xp-G/Cs	Xeroderma Pigmentosum Group G/Cockayne Syndrome

Lung Cancer

Lung Carcinoma	Non-Small Cell Lung Carcinoma
Lung Cancer, Susceptibility To	Lung Cancer, Protection Against
Adenocarcinoma Of Lung, Somatic	Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In
Nonsmall Cell Lung Cancer	Lung Neoplasm
Carcinoma Of Lung	Lung Non-Small Cell Carcinoma
Non-Small Cell Lung Cancer	Nsclc
Lung Neoplasms	Malignant Neoplasm Of Lung
Alveolar Cell Carcinoma	Nonsmall Cell Lung Cancer, Somatic
Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In	Nonsmall Cell Lung Cancer, Susceptibility To
Lung Cancer, Somatic	Lung Cancer, Resistance To
Cancer Of Lung	Cancer Of Bronchus
Cancer Of The Lung	Lung Malignancies
Lung Malignant Tumors	Malignant Lung Tumor
Malignant Tumor Of Lung	Pulmonary Cancer
Pulmonary Carcinoma	Pulmonary Neoplasms
Respiratory Carcinoma	LNCR
Adenocarcinoma Of Lung	Neoplasm Of Lung
Cancer Lung	Carcinoma Non-Small Cell Lung
Carcinoma, Non-Small-Cell Lung	Lung Cancers
Lung Carcinomas	Cancer, Lung
Cancer, Lung, Non-Small Cell	Primary Malignant Neoplasm Of Lung
Bronchioloalveolar Adenocarcinoma

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Nemaline Myopathy 3

Nemaline Myopathy 3, Autosomal Dominant Or Recessive	Congenital Myopathy With Excess Of Thin Filaments
NEM3	Myopathy, Actin, Congenital, With Cores
Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments	Actin-Accumulation Myopathy
Actin Myopathy	Actin Accumulation Myopathy
Actin Filament Aggregate Myopathy	Nemaline Myopathy, Type 3
MPCETM	Acta1-Related Nemaline Myopathy
Actin Myopathy Congenital With Cores	Nemaline Myopathy 3 With Intranuclear Rods
Myopathy, Nemaline, Type 3

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

Rothmund-Thomson Syndrome, Type 2

Rothmund-Thomson Syndrome	Rts
RTS2	Poikiloderma Of Rothmund-Thomson
Rothmund-Thomson Syndrome Type 2	Congenital Poikiloderma
Poikiloderma Congenitale	Poikiloderma Atrophicans And Cataract
Poikiloderma Congenitale Of Rothmund-Thomson	Poikiloderma Of Rothmund-Thomson Type 2
Rothmund-Thomson Syndrome 2	Erythrokeratodermia Variabilis

Cutaneous Lupus Erythematosus

Lupus Erythematosus, Cutaneous

Lupus Erythematosus Cutaneous

Nijmegen Breakage Syndrome

Berlin Breakage Syndrome	NBS
Microcephaly, Normal Intelligence And Immunodeficiency	Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant V1	Seemanova Syndrome Ii
Immunodeficiency-Microcephaly-Chromosomal Instability Syndrome	Seemanova Syndrome Type 2
At-V1	Microcephaly With Normal Intelligence, Immunodeficiency, And Lymphoreticular Malignancies
Nonsyndromal Microcephaly, Autosomal Recessive, With Normal Intelligence	Immunodeficiency, Microcephaly, And Chromosomal Instability
Microcephaly-Immunodeficiency-Lymphoreticuloma Syndrome	Microcephaly Immunodeficiency Lymphoreticuloma
Microcephaly With Normal Intelligence Immunodeficiency And Lymphoreticular Malignancies	Nonsyndromal Microcephaly Autosomal Recessive With Normal Intelligence
Seemanova Syndrome 2	Ataxia-Telangiectasia Variant 1
Seemanova Syndrome	At V1
Ataxia-Telangiectasia, Variant 1	Microcephaly-Immunodeficiency-Lymphoid Malignancy Syndrome
V-At	Ataxia Telangiectasia Variant V1

Trichothiodystrophy

Ttd	Amish Brittle Hair Syndrome
Bids Syndrome	Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome
Ibids	Pibids
Trichothiodystrophy Syndromes

Cockayne Syndrome A

Cockayne Syndrome Type 1	Cockayne Syndrome, Type A
Cockayne Syndrome Type I	CSA
Cockayne Syndrome Classic Form	Cockayne Syndrome Classical
Cockayne Syndrome Type A	Ckn1

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Hereditary Breast Ovarian Cancer Syndrome

Hereditary Breast And Ovarian Cancer Syndrome	Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer
Breast And/Or Ovarian Cancer	Breast And Ovarian Cancer Syndrome
Hboc Syndrome	Hereditary Breast And Ovarian Cancer
Brca1- Brca2-Associated Hboc

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-112670	Exo1	Inhibitor	99.80%	Unkown
HY-P2857	Amyloglucosidase, Aspergillus niger		/	Unkown
HY-P3187	Exo-1,4-β-xylosidase		/	Unkown
HY-162273	Antibacterial agent 189	Inhibitor	/	Unkown
HY-162274	Oxazepine		/	Unkown
HY-RS04585	EXO1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EXO1	VGNC	VGNC:40511
Mus musculus	EXO1	MGD	MGI:1349427
Rattus norvegicus	EXO1	RGD	RGD:1309465
Macaca mulatta	EXO1	VGNC	VGNC:72447
Felis catus	EXO1	VGNC	VGNC:61996
Bos taurus	EXO1	VGNC	VGNC:28642

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