EXO1 exonuclease 1 [Homo sapiens] - Gene

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Summary

Official Symbol: EXO1provided by HGNC
Official Full Name: exonuclease 1provided by HGNC
Primary source: HGNC:3511
Locus tag: RP11-553N16.2
See related: Ensembl:ENSG00000174371; HPRD:06932; MIM:606063; Vega:OTTHUMG00000039965
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]

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Genomic context

Location :: 1q42-q43

Sequence :: Chromosome: 1; NC_000001.10 (242011493..242053241)

See EXO1 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Gene expression intensity of exonuclease 1 as related to Aicardi- Goutie;res syndrome mutations.
Title: Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
Human Ku70/80 protein blocks exonuclease 1-mediated DNA resection in the presence of human Mre11 or Mre11/Rad50 protein complex.
Title: Human Ku70/80 protein blocks exonuclease 1-mediated DNA resection in the presence of human Mre11 or Mre11/Rad50 protein complex.
a key role for hEXO1 in the UV-induced DNA damage response linking nucleotide excision repair to checkpoint activation in human cells.
Title: Human exonuclease 1 connects nucleotide excision repair (NER) processing with checkpoint activation in response to UV irradiation.
Exo1 induces a sharp bend in the DNA at nicks or gaps. Frayed 5' ends of nicked duplexes resemble flap junctions, unifying the mechanisms of endo- and exonucleolytic processing.
Title: Structures of human exonuclease 1 DNA complexes suggest a unified mechanism for nuclease family.
BLM increases the affinity of EXO1 for ends, and MRN recruits and enhances the processivity of EXO1.
Title: BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.
Gene-environment interactions with smoking were significant for Exo1 K589E polymorphism (OR=2.509, 95% CI=1.914-3.287) and results provide evidence that the A allele of the Exo1 K589E may be associated with the development of oral cancer.
Title: Interaction of Exo1 genotypes and smoking habit in oral cancer in Taiwan.
This study identifies new functions of CtIP and EXO1 in DNA end resection and provides new information on the regulation of DNA double-strand breaks repair pathways, which is a key factor in the maintenance of genome integrity.
Title: DNA end resection by CtIP and exonuclease 1 prevents genomic instability.
The EXO1 polymorphism, P757L, was analyzed by PCR-RFLP. Patients with the Leu/Leu genotype have a reduced risk of colorectal cancer.
Title: Impact of EXO1 polymorphism in susceptibility to colorectal cancer.
study found in gastric and colorectal cancers that EXO1 gene harbored somatic frameshift mutations within the mononucleotide repeats in the coding sequences; these mutations were found in the cancers with microsatellite instability
Title: Somatic mutation of EXO1 gene in gastric and colorectal cancers with microsatellite instability.
FEN1 and EXO1 can eliminate structures formed by trinucleotide repeats in the course of replication, relying on endonucleolytic and exonucleolytic activities, respectively.
Title: Complementary roles for exonuclease 1 and Flap endonuclease 1 in maintenance of triplet repeats.

Submit: New GeneRIF Correction See all (37)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_003677.3	NP_000240.1	MLH1	BIND	PubMed	The exonuclease HEX1 interacts with the mismatch repair protein hMLH1.
NP_003677.3	NP_000242.1	MSH2	BIND	PubMed	The exonuclease HEX1 interacts with the mismatch repair protein hMSH2.
NP_006018.3	NP_000240.1	MLH1	BIND	PubMed	The exonuclease hEXO1b interacts with the mismatch repair protein hMLH1.
NP_006018.3	NP_000242.1	MSH2	BIND	PubMed	The exonuclease hEXO1b interacts with the mismatch repair protein hMSH2.
NP_006018.3	NP_002430.1	MSH3	BIND	PubMed	MSH3 interacts with human exonuclease I.
NP_006018.3	NP_002583.1	PCNA	BIND	PubMed	PCNA interacts with EXO1b.
NP_006018.3	NP_000526.1	PMS2	BIND	PubMed	hExo interacts with IPMS2
Q9UQ84	P40692	MLH1	HPRD	PubMed
Q9UQ84	P43246	MSH2	HPRD	PubMed
Q9UQ84	P20585	MSH3	HPRD	PubMed
Q9UQ84	P54278	PMS2	HPRD	PubMed
BioGRID:114602	BioGRID:106962	ATM	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:114602	BioGRID:107110	BLM	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114602	BioGRID:110038	KPNA4	BioGRID	PubMed	Reconstituted Complex
BioGRID:114602	BioGRID:110035	KPNB1	BioGRID	PubMed	Reconstituted Complex
BioGRID:114602	BioGRID:110438	MLH1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western; Protein-peptide; Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:110573	MSH2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:110574	MSH3	BioGRID	PubMed	Reconstituted Complex
BioGRID:114602	BioGRID:111142	PCNA	BioGRID	PubMed	Co-localization
BioGRID:114602	BioGRID:111391	PMS1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:114602	BioGRID:111404	PMS2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:114602	BioGRID:109072	SFN	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:112497	SUMO2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114602	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:114602	BioGRID:113361	YWHAB	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:113363	YWHAE	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:113364	YWHAG	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:113365	YWHAH	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:116168	YWHAQ	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:114602	BioGRID:113366	YWHAZ	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
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
DNA binding	IDA Inferred from Direct Assay more info	PubMed
double-stranded DNA specific 5'-3' exodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
endonuclease activity	IEA Inferred from Electronic Annotation more info
exonuclease activity	IEA Inferred from Electronic Annotation more info
exonuclease activity	TAS Traceable Author Statement 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
ribonuclease H activity	TAS Traceable Author Statement more info	PubMed
single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
structure-specific DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
DNA recombination	IGI Inferred from Genetic Interaction more info	PubMed
DNA repair	IEA Inferred from Electronic Annotation more info
DNA repair	TAS Traceable Author Statement more info	PubMed
humoral immune response mediated by circulating immunoglobulin	IEA Inferred from Electronic Annotation more info
isotype switching	IEA Inferred from Electronic Annotation more info
meiosis	IEA Inferred from Electronic Annotation more info
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
somatic hypermutation of immunoglobulin genes	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: exonuclease 1

Names: exonuclease 1; hExo1; rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1

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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

NG_029100.1 RefSeqGene

Range

5001..46749

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003686.4 → NP_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, OTTHUMP00000037879, ENST00000518483, OTTHUMT00000096406

Conserved Domains (3) summary

TIGR03674
Location:1 – 308
Blast Score: 213

fen_arch; flap structure-specific endonuclease

cd09908
Location:213 – 289
Blast Score: 320

H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease

cd09857
Location:1 – 206
Blast Score: 927

PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs.
NM_006027.4 → NP_006018.4 exonuclease 1 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (b).

Source sequence(s)

AL365366, BC007491, CA430743

Consensus CDS

CCDS1620.1

UniProtKB/Swiss-Prot

Q9UQ84

Related

ENSP00000311873, ENST00000348581

Conserved Domains (3) summary

TIGR03674
Location:1 – 308
Blast Score: 212

fen_arch; flap structure-specific endonuclease

cd09908
Location:213 – 289
Blast Score: 320

H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease

cd09857
Location:1 – 206
Blast Score: 926

PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs.
NM_130398.3 → NP_569082.2 exonuclease 1 isoform b

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, OTTHUMP00000037878, ENST00000366548, OTTHUMT00000096405

Conserved Domains (3) summary

TIGR03674
Location:1 – 308
Blast Score: 212

fen_arch; flap structure-specific endonuclease

cd09908
Location:213 – 289
Blast Score: 320

H3TH_EXO1; H3TH domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease

cd09857
Location:1 – 206
Blast Score: 926

PIN_EXO1; PIN domain of Exonuclease-1, a structure-specific, divalent-metal-ion dependent, 5' nuclease and homologs.

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

242011493..242053241

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

212470280..212512011

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC004783.1	AAC32424.1
genomic	AF091742.1	AAC69879.1
		AAC69880.1
genomic	AF091754.1	AAC69879.1
		AAC69880.1
genomic	AF549168.1	AAN39382.1
genomic	AL365366.20	CAI15655.1
		CAI15656.1
		CAI15657.1
		CAI15658.1
genomic	CH471098.1	EAW70103.1
		EAW70104.1
		EAW70105.1
		EAW70106.1
mRNA	AF042282.1	AAC32259.1
mRNA	AF060479.1	AAC33874.1
mRNA	AF084974.1	AAD13754.1
mRNA	AF091740.1	AAC63043.1
mRNA	AK291291.1	BAF83980.1
mRNA	AL080139.1	CAB45733.1
mRNA	BC007491.2	AAH07491.1
mRNA	BM465399.1	None
mRNA	BM983504.1	None
mRNA	CA430743.1	None
mRNA	CD644038.1	None
mRNA	CN348533.1	None
mRNA	DA661516.1	None
other-genetic	DQ893032.2	ABM83958.1
other-genetic	EU176754.1	ABW03555.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q5T397	GenPept	UniProtKB/TrEMBL:Q5T397
Q5T399	GenPept	UniProtKB/TrEMBL:Q5T399
Q9UQ84.2	GenPept	UniProtKB/Swiss-Prot:Q9UQ84