APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1)
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Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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328 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Apurinic/apyrimidinic endodeoxyribonuclease 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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APEX1 |
SynonymsGene synonyms aliases
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APE, APE1, APEN, APEX, APX, HAP1, REF1 |
ChromosomeChromosome number
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14 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
14q11.2 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA dama |
miRNAmiRNA information provided by mirtarbase database.
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Transcription factors
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000723 |
Process |
Telomere maintenance |
IDA |
24703901 |
GO:0000781 |
Component |
Chromosome, telomeric region |
IC |
24703901 |
GO:0003677 |
Function |
DNA binding |
IDA |
11286553 |
GO:0003684 |
Function |
Damaged DNA binding |
IDA |
12524539, 14706345, 24703901 |
GO:0003691 |
Function |
Double-stranded telomeric DNA binding |
IDA |
24703901 |
GO:0003713 |
Function |
Transcription coactivator activity |
IDA |
9119221, 18809583 |
GO:0003714 |
Function |
Transcription corepressor activity |
TAS |
7961715 |
GO:0003723 |
Function |
RNA binding |
HDA |
22681889 |
GO:0003906 |
Function |
DNA-(apurinic or apyrimidinic site) endonuclease activity |
IBA |
21873635 |
GO:0003906 |
Function |
DNA-(apurinic or apyrimidinic site) endonuclease activity |
IDA |
8932386, 15707971, 18973764, 19188445, 24703901 |
GO:0003906 |
Function |
DNA-(apurinic or apyrimidinic site) endonuclease activity |
TAS |
9119221 |
GO:0004519 |
Function |
Endonuclease activity |
IDA |
11478795 |
GO:0004520 |
Function |
Endodeoxyribonuclease activity |
TAS |
|
GO:0004523 |
Function |
RNA-DNA hybrid ribonuclease activity |
TAS |
11286553 |
GO:0004528 |
Function |
Phosphodiesterase I activity |
IBA |
21873635 |
GO:0004528 |
Function |
Phosphodiesterase I activity |
TAS |
9119221 |
GO:0004844 |
Function |
Uracil DNA N-glycosylase activity |
TAS |
|
GO:0005515 |
Function |
Protein binding |
IPI |
8621488, 9108029, 9207062, 11118054, 11809897, 12524539, 15518571, 15942031, 18809583, 19188445, 19465398, 19505873, 19934257, 20231292, 20696907, 20808282, 20856196, 32911434 |
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IDA |
9119221, 15942031, 19934257, 28404743 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
17148573 |
GO:0005654 |
Component |
Nucleoplasm |
TAS |
|
GO:0005667 |
Component |
Transcription regulator complex |
IEA |
|
GO:0005730 |
Component |
Nucleolus |
IDA |
17148573, 19188445 |
GO:0005737 |
Component |
Cytoplasm |
IDA |
9560228 |
GO:0005739 |
Component |
Mitochondrion |
IDA |
20231292 |
GO:0005783 |
Component |
Endoplasmic reticulum |
TAS |
12524539 |
GO:0005813 |
Component |
Centrosome |
IDA |
|
GO:0005840 |
Component |
Ribosome |
TAS |
12524539 |
GO:0006281 |
Process |
DNA repair |
IDA |
9560228 |
GO:0006284 |
Process |
Base-excision repair |
IBA |
21873635 |
GO:0006284 |
Process |
Base-excision repair |
IDA |
8932386 |
GO:0006284 |
Process |
Base-excision repair |
TAS |
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GO:0006286 |
Process |
Base-excision repair, base-free sugar-phosphate removal |
TAS |
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GO:0006310 |
Process |
DNA recombination |
IEA |
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GO:0007568 |
Process |
Aging |
IEA |
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GO:0008081 |
Function |
Phosphoric diester hydrolase activity |
IDA |
11478795, 18973764 |
GO:0008309 |
Function |
Double-stranded DNA exodeoxyribonuclease activity |
IDA |
24703901 |
GO:0008311 |
Function |
Double-stranded DNA 3'-5' exodeoxyribonuclease activity |
IBA |
21873635 |
GO:0008408 |
Function |
3'-5' exonuclease activity |
IDA |
11832948 |
GO:0008408 |
Function |
3'-5' exonuclease activity |
TAS |
11286553 |
GO:0014912 |
Process |
Negative regulation of smooth muscle cell migration |
IEA |
|
GO:0016491 |
Function |
Oxidoreductase activity |
IDA |
9119221, 12524539 |
GO:0016607 |
Component |
Nuclear speck |
IDA |
17148573 |
GO:0016890 |
Function |
Site-specific endodeoxyribonuclease activity, specific for altered base |
IDA |
19188445, 24703901 |
GO:0031490 |
Function |
Chromatin DNA binding |
IDA |
11809897 |
GO:0042493 |
Process |
Response to drug |
IEA |
|
GO:0042981 |
Process |
Regulation of apoptotic process |
IDA |
19934257 |
GO:0043488 |
Process |
Regulation of mRNA stability |
IMP |
19401441 |
GO:0044877 |
Function |
Protein-containing complex binding |
IEA |
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GO:0045454 |
Process |
Cell redox homeostasis |
IEA |
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GO:0045892 |
Process |
Negative regulation of transcription, DNA-templated |
IEA |
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GO:0045944 |
Process |
Positive regulation of transcription by RNA polymerase II |
IDA |
18809583 |
GO:0046872 |
Function |
Metal ion binding |
IDA |
11286553 |
GO:0048471 |
Component |
Perinuclear region of cytoplasm |
IDA |
12524539 |
GO:0051059 |
Function |
NF-kappaB binding |
IEA |
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GO:0070301 |
Process |
Cellular response to hydrogen peroxide |
IEA |
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GO:0071320 |
Process |
Cellular response to cAMP |
IEA |
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GO:0071375 |
Process |
Cellular response to peptide hormone stimulus |
IEA |
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GO:0080111 |
Process |
DNA demethylation |
IDA |
21496894 |
GO:0090502 |
Process |
RNA phosphodiester bond hydrolysis, endonucleolytic |
IEA |
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GO:0097698 |
Process |
Telomere maintenance via base-excision repair |
IDA |
24703901 |
GO:1900087 |
Process |
Positive regulation of G1/S transition of mitotic cell cycle |
IEA |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P27695 |
Protein name |
DNA repair nuclease/redox regulator APEX1 (EC 3.1.11.2) (EC 3.1.21.-) (APEX nuclease) (APEN) (Apurinic-apyrimidinic endonuclease 1) (AP endonuclease 1) (APE-1) (DNA-(apurinic or apyrimidinic site) endonuclease) (Redox factor-1) (REF-1) [Cleaved into: DNA |
Protein function |
Multifunctional protein that plays a central role in the cellular response to oxidative stress. The two major activities of APEX1 are DNA repair and redox regulation of transcriptional factors (PubMed:11118054, PubMed:11452037, PubMed:15831793, |
PDB |
1BIX
,
1CQG
,
1CQH
,
1DE8
,
1DE9
,
1DEW
,
1E9N
,
1HD7
,
2ISI
,
2O3H
,
3U8U
,
4IEM
,
4LND
,
4QH9
,
4QHD
,
4QHE
,
5CFG
,
5DFF
,
5DFH
,
5DFI
,
5DFJ
,
5DG0
,
5WN0
,
5WN1
,
5WN2
,
5WN3
,
5WN4
,
5WN5
,
6BOQ
,
6BOR
,
6BOS
,
6BOT
,
6BOU
,
6BOV
,
6BOW
,
6MK3
,
6MKK
,
6MKM
,
6MKO
,
6P93
,
6P94
,
6W0Q
,
6W2P
,
6W3L
,
6W3N
,
6W3Q
,
6W3U
,
6W43
,
6W4I
,
6W4T
,
7LPG
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Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF03372 |
Exo_endo_phos |
65 → 309 |
Endonuclease/Exonuclease/phosphatase family |
Domain |
|
Sequence |
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Sequence length |
318 |
Interactions |
View interactions |
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