EXO1 - exonuclease 1 Gene
Also Known as HEX1; hExoI
Species: Homo sapiens
About EXO1
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 |
| Molecular Function GO Annotation | Evidence | References | 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 | References | 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 | References | Source |
|---|---|---|---|
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11429708 | GOA |
EXO1 Protein Structure
XPG_N: XPG N-terminal domain (1 - 98)
XPG_I: XPG I-region (139 - 225)
- 0
- 200
- 400
- 600
- 800
- 846 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
exonuclease 1 |
|
EXO1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P810958 | EXO1 Antibody | WB, ICC/IF, ChIP | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Werner Syndrome |
|
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| Aicardi-Goutieres Syndrome |
|
|
| Lynch Syndrome |
|
|
| Chilblain Lupus 1 |
|
|
| Mismatch Repair Cancer Syndrome |
|
|
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
|
| Xeroderma Pigmentosum, Complementation Group G |
|
|
| Lung Cancer |
|
|
| Xeroderma Pigmentosum, Variant Type |
|
|
| Nemaline Myopathy 3 |
|
|
| Colorectal Cancer |
|
|
| Rothmund-Thomson Syndrome, Type 2 |
|
|
| Cutaneous Lupus Erythematosus |
|
|
| Nijmegen Breakage Syndrome |
|
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| Trichothiodystrophy |
|
|
| Cockayne Syndrome A |
|
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| Seckel Syndrome |
|
|
| Aplastic Anemia |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Fanconi Anemia, Complementation Group A |
|
|
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 |
| Others | EXO1 | NCBI |