Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 328
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol APEX1   Gene   UCSC   Ensembl
Aliases APE, APE1, APEN, APEX, APX, HAP1, REF1
Gene name apurinic/apyrimidinic endodeoxyribonuclease 1
Alternate names DNA-(apurinic or apyrimidinic site) lyase, AP endonuclease class I, AP lyase, APEX nuclease (multifunctional DNA repair enzyme) 1, apurinic-apyrimidinic endonuclease 1, apurinic/apyrimidinic (abasic) endonuclease, deoxyribonuclease (apurinic or apyrimidinic), pr,
Gene location 14q11.2 (20455130: 20457771)     Exons: 5     NC_000014.9
Gene summary(Entrez) Apurinic/apyrimidinic (AP) sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. AP sites are pre-mutagenic lesions that can prevent normal DNA replication so the cell contains systems to identify and repair such sites. Class II AP endonucleases cleave the phosphodiester backbone 5' to the AP site. This gene encodes the major AP endonuclease in human cells. Splice variants have been found for this gene; all encode the same protein. [provided by RefSeq, Jul 2008]
OMIM 107748

SNPs

rs1130409

Strand:    Allele origin:   Allele change: A/C/G/T   Mutation type: snp

CM000676.2   g.20456995T>A
CM000676.2   g.20456995T>C
CM000676.2   g.20456995T>G
NC_000014.8   g.20925154T>A
NC_000014.8   g.20925154T>G
NC_000014.9   g.20456995T>A
NC_000014.9   g.20456995T>C
NC_000014.9   g.20456995T>G
NG_008718.1   g.6865T>A
NG_008718.1   g.6865T>C
NG_008718.1   g.6865T>G
NM_001244249.1   c.444T>A
NM_001244249.1   c.444T>C
NM_001244249.1   c.444T>G
NM_001641.3   c.444T>A
NM_001641.3   c.444T>C
NM_001641.3   c.444T>G
NM_017807.3   c.-2312A>C
NM_017807.3   c.-2312A>G
NM_017807.3   c.-2312A>T
NM_080648.2   c.444T>A
NM_080648.2   c.444T>C
NM_080648.2   c.444T>G
NM_080649.2   c.444T>A
NM_080649.2   c.444T>C
NM_080649.2   c.444T>G
NP_001231178.1   p.Asp148=
NP_001231178.1   p.Asp148Glu
NP_001632.2   p.Asp148=
NP_001632.2   p.Asp148Glu
NP_542379.1   p.Asp148=
NP_542379.1   p.Asp148Glu
NP_542380.1   p.Asp148=
NP_542380.1   p.Asp148Glu
XP_005267638.1   p.Asp148Glu
XP_005267639.1   p.Asp131Glu
XP_005267640.1   p.Asp131Glu
rs2227564

Strand:    Allele origin: T(germline)/C(germline)  Allele change: C/T   Mutation type: snp

CM000672.2   g.73913343T>C
NC_000010.10   g.75673101T=
NC_000010.10   g.75673101T>C
NC_000010.11   g.73913343T=
NC_000010.11   g.73913343T>C
NG_011904.1   g.7240C=
NG_011904.1   g.7240C>T
NM_001001791.2   c.-73-268A>G
NM_001001791.2   c.-73-268G>A
NM_001145031.1   c.371C=
NM_001145031.1   c.371C>T
NM_001145031.2   c.371C=
NM_001145031.2   c.371C>T
NM_001319191.1   c.164C=
NM_001319191.1   c.164C>T
NM_002658.3   c.422C=
NM_002658.3   c.422C>T
NM_002658.4   c.422C=
NM_002658.4   c.422C>T
NP_001138503.1   p.Pro124=
NP_001138503.1   p.Pro124Leu
NP_001306120.1   p.Pro55=
NP_001306120.1   p.Pro55Leu
NP_002649.1   p.Pro141=
NP_002649.1   p.Pro141Leu
XP_005269958.1   p.Leu55=
XP_005269958.1   p.Leu55Pro
XP_011538168.1   p.Leu141=
XP_011538168.1   p.Leu141Pro
Clinical Significance: other

rs2227579

Strand:    Allele origin:   Allele change: A/C/T   Mutation type: snp

CM000672.2   g.73911531C>A
CM000672.2   g.73911531C>T
NC_000010.10   g.75671289C>T
NC_000010.11   g.73911531C>A
NC_000010.11   g.73911531C>T
NG_011904.1   g.5428C>A
NG_011904.1   g.5428C>T
NM_001001791.2   c.*154G>A
NM_001001791.2   c.*154G>T
NM_001145031.1   c.-361C>A
NM_001145031.1   c.-361C>T
NM_001145031.2   c.-361C>A
NM_001145031.2   c.-361C>T
NM_001319191.1   c.-255C>A
NM_001319191.1   c.-255C>T
NM_002658.3   c.-25C>A
NM_002658.3   c.-25C>T
NM_002658.4   c.-25C>A
NM_002658.4   c.-25C>T
Clinical Significance: Likely benign

Protein Summary

Protein general information P27695  

Name: DNA (apurinic or apyrimidinic site) lyase (EC 3.1. . ) (EC 4.2.99.18) (APEX nuclease) (APEN) (Apurinic apyrimidinic endonuclease 1) (AP endonuclease 1) (APE 1) (REF 1) (Redox factor 1) [Cleaved into: DNA (apurinic or apyrimidinic site) lyase, mitochondria

Length: 318  Mass: 35,555

Sequence MPKRGKKGAVAEDGDELRTEPEAKKSKTAAKKNDKEAAGEGPALYEDPPDQKTSPSGKPATLKICSWNVDGLRAW
IKKKGLDWVKEEAPDILCLQETKCSENKLPAELQELPGLSHQYWSAPSDKEGYSGVGLLSRQCPLKVSYGIGDEE
HDQEGRVIVAEFDSFVLVTAYVPNAGRGLVRLEYRQRWDEAFRKFLKGLASRKPLVLCGDLNVAHEEIDLRNPKG
NKKNAGFTPQERQGFGELLQAVPLADSFRHLYPNTPYAYTFWTYMMNARSKNVGWRLDYFLLSHSLLPALCDSKI
RSKALGSDHCPITLYLAL
Structural information

Motifs
Nuclear localization(8-13)
Nuclear export(64-80)
Interpro:  IPR004808 IPR020847 IPR020848 IPR005135
Prosite:   PS00726 PS00727 PS00728 PS51435

Pfam:  
PF03372

PDB:  
1BIX 1CQG 1CQH 1DE8 1DE9 1DEW 1E9N 1HD7 2ISI 2O3H 3U8U 4IEM 4LND 4QH9 4QHD 4QHE 5CFG 5DFF 5DFH 5DFI 5DFJ 5DG0
PDBsum:   1BIX 1CQG 1CQH 1DE8 1DE9 1DEW 1E9N 1HD7 2ISI 2O3H 3U8U 4IEM 4LND 4QH9 4QHD 4QHE 5CFG 5DFF 5DFH 5DFI 5DFJ 5DG0

DIP:  
6130
MINT:   119189
STRING:   ENSP00000216714;
Other Databases GeneCards:  APEX1;  Malacards:  APEX1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000723 telomere maintenance
IDA biological_process
GO:0000784 nuclear chromosome, telom
eric region
IC cellular_component
GO:0003677 DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003691 double-stranded telomeric
DNA binding
IDA molecular_function
GO:0003713 transcription coactivator
activity
IDA molecular_function
GO:0003714 transcription corepressor
activity
TAS molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
TAS molecular_function
GO:0004519 endonuclease activity
IDA molecular_function
GO:0004520 endodeoxyribonuclease act
ivity
TAS molecular_function
GO:0004523 RNA-DNA hybrid ribonuclea
se activity
TAS molecular_function
GO:0004528 phosphodiesterase I activ
ity
TAS molecular_function
GO:0004844 uracil DNA N-glycosylase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005667 transcription factor comp
lex
IEA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005783 endoplasmic reticulum
TAS cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005840 ribosome
TAS cellular_component
GO:0006281 DNA repair
IDA biological_process
GO:0006284 base-excision repair
IDA biological_process
GO:0006284 base-excision repair
TAS biological_process
GO:0006286 base-excision repair, bas
e-free sugar-phosphate re
moval
TAS biological_process
GO:0006310 DNA recombination
IEA biological_process
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008081 phosphoric diester hydrol
ase activity
IDA molecular_function
GO:0008081 phosphoric diester hydrol
ase activity
IDA molecular_function
GO:0008309 double-stranded DNA exode
oxyribonuclease activity
IDA molecular_function
GO:0008311 double-stranded DNA 3'-5'
exodeoxyribonuclease act
ivity
IBA molecular_function
GO:0008408 3'-5' exonuclease activit
y
TAS molecular_function
GO:0008408 3'-5' exonuclease activit
y
IDA molecular_function
GO:0014912 negative regulation of sm
ooth muscle cell migratio
n
IEA biological_process
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016607 nuclear speck
IDA cellular_component
GO:0016890 site-specific endodeoxyri
bonuclease activity, spec
ific for altered base
IDA molecular_function
GO:0016890 site-specific endodeoxyri
bonuclease activity, spec
ific for altered base
IDA molecular_function
GO:0031490 chromatin DNA binding
IDA molecular_function
GO:0032403 protein complex binding
IEA molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0043488 regulation of mRNA stabil
ity
IMP biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045454 cell redox homeostasis
IEA biological_process
GO:0045739 positive regulation of DN
A repair
IDA biological_process
GO:0046872 metal ion binding
IDA molecular_function
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0051059 NF-kappaB binding
IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0070301 cellular response to hydr
ogen peroxide
IEA biological_process
GO:0071320 cellular response to cAMP
IEA biological_process
GO:0071375 cellular response to pept
ide hormone stimulus
IEA biological_process
GO:0080111 DNA demethylation
IDA biological_process
GO:0090502 RNA phosphodiester bond h
ydrolysis, endonucleolyti
c
IEA biological_process
GO:1900087 positive regulation of G1
/S transition of mitotic
cell cycle
IEA biological_process
GO:1903507 negative regulation of nu
cleic acid-templated tran
scription
IEA biological_process
GO:0000723 telomere maintenance
IDA biological_process
GO:0000784 nuclear chromosome, telom
eric region
IC cellular_component
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003677 DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003691 double-stranded telomeric
DNA binding
IDA molecular_function
GO:0003713 transcription coactivator
activity
IDA molecular_function
GO:0003714 transcription corepressor
activity
TAS molecular_function
GO:0003723 RNA binding
IEA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IEA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
TAS molecular_function
GO:0004518 nuclease activity
IEA molecular_function
GO:0004518 nuclease activity
IEA molecular_function
GO:0004519 endonuclease activity
IEA molecular_function
GO:0004519 endonuclease activity
IEA molecular_function
GO:0004519 endonuclease activity
IDA molecular_function
GO:0004520 endodeoxyribonuclease act
ivity
TAS molecular_function
GO:0004520 endodeoxyribonuclease act
ivity
TAS molecular_function
GO:0004521 endoribonuclease activity
IEA molecular_function
GO:0004523 RNA-DNA hybrid ribonuclea
se activity
TAS molecular_function
GO:0004527 exonuclease activity
IEA molecular_function
GO:0004528 phosphodiesterase I activ
ity
TAS molecular_function
GO:0004844 uracil DNA N-glycosylase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005622 intracellular
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005667 transcription factor comp
lex
IEA cellular_component
GO:0005730 nucleolus
IEA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IEA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
IEA cellular_component
GO:0005783 endoplasmic reticulum
TAS cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005840 ribosome
TAS cellular_component
GO:0006281 DNA repair
IEA biological_process
GO:0006281 DNA repair
IEA biological_process
GO:0006281 DNA repair
IDA biological_process
GO:0006284 base-excision repair
IDA biological_process
GO:0006284 base-excision repair
TAS biological_process
GO:0006286 base-excision repair, bas
e-free sugar-phosphate re
moval
TAS biological_process
GO:0006310 DNA recombination
IEA biological_process
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0006974 cellular response to DNA
damage stimulus
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008081 phosphoric diester hydrol
ase activity
IDA molecular_function
GO:0008081 phosphoric diester hydrol
ase activity
IDA molecular_function
GO:0008309 double-stranded DNA exode
oxyribonuclease activity
IDA molecular_function
GO:0008311 double-stranded DNA 3'-5'
exodeoxyribonuclease act
ivity
IBA molecular_function
GO:0008408 3'-5' exonuclease activit
y
TAS molecular_function
GO:0008408 3'-5' exonuclease activit
y
IDA molecular_function
GO:0010243 response to organonitroge
n compound
IEA biological_process
GO:0014912 negative regulation of sm
ooth muscle cell migratio
n
IEA biological_process
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016607 nuclear speck
IEA cellular_component
GO:0016607 nuclear speck
IDA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0016829 lyase activity
IEA molecular_function
GO:0016890 site-specific endodeoxyri
bonuclease activity, spec
ific for altered base
IDA molecular_function
GO:0016890 site-specific endodeoxyri
bonuclease activity, spec
ific for altered base
IDA molecular_function
GO:0031490 chromatin DNA binding
IDA molecular_function
GO:0032403 protein complex binding
IEA molecular_function
GO:0042493 response to drug
IEA biological_process
GO:0043488 regulation of mRNA stabil
ity
IMP biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045454 cell redox homeostasis
IEA biological_process
GO:0045739 positive regulation of DN
A repair
IDA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046872 metal ion binding
IDA molecular_function
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0051059 NF-kappaB binding
IEA molecular_function
GO:0055114 oxidation-reduction proce
ss
IEA biological_process
GO:0070301 cellular response to hydr
ogen peroxide
IEA biological_process
GO:0071320 cellular response to cAMP
IEA biological_process
GO:0071375 cellular response to pept
ide hormone stimulus
IEA biological_process
GO:0071417 cellular response to orga
nonitrogen compound
IEA biological_process
GO:0080111 DNA demethylation
IDA biological_process
GO:0090502 RNA phosphodiester bond h
ydrolysis, endonucleolyti
c
IEA biological_process
GO:1900087 positive regulation of G1
/S transition of mitotic
cell cycle
IEA biological_process
GO:1903507 negative regulation of nu
cleic acid-templated tran
scription
IEA biological_process
GO:0000723 telomere maintenance
IDA biological_process
GO:0000784 nuclear chromosome, telom
eric region
IC cellular_component
GO:0003677 DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003684 damaged DNA binding
IDA molecular_function
GO:0003691 double-stranded telomeric
DNA binding
IDA molecular_function
GO:0003713 transcription coactivator
activity
IDA molecular_function
GO:0003714 transcription corepressor
activity
TAS molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
IDA molecular_function
GO:0003906 DNA-(apurinic or apyrimid
inic site) lyase activity
TAS molecular_function
GO:0004519 endonuclease activity
IDA molecular_function
GO:0004520 endodeoxyribonuclease act
ivity
TAS molecular_function
GO:0004520 endodeoxyribonuclease act
ivity
TAS molecular_function
GO:0004523 RNA-DNA hybrid ribonuclea
se activity
TAS molecular_function
GO:0004528 phosphodiesterase I activ
ity
TAS molecular_function
GO:0004844 uracil DNA N-glycosylase
activity
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005634 nucleus
IDA cellular_component
GO:0005654 nucleoplasm
IDA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0005739 mitochondrion
IDA cellular_component
GO:0005783 endoplasmic reticulum
TAS cellular_component
GO:0005813 centrosome
IDA cellular_component
GO:0005840 ribosome
TAS cellular_component
GO:0006281 DNA repair
IDA biological_process
GO:0006284 base-excision repair
IDA biological_process
GO:0006284 base-excision repair
TAS biological_process
GO:0006286 base-excision repair, bas
e-free sugar-phosphate re
moval
TAS biological_process
GO:0008081 phosphoric diester hydrol
ase activity
IDA molecular_function
GO:0008081 phosphoric diester hydrol
ase activity
IDA molecular_function
GO:0008309 double-stranded DNA exode
oxyribonuclease activity
IDA molecular_function
GO:0008311 double-stranded DNA 3'-5'
exodeoxyribonuclease act
ivity
IBA molecular_function
GO:0008408 3'-5' exonuclease activit
y
TAS molecular_function
GO:0008408 3'-5' exonuclease activit
y
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016491 oxidoreductase activity
IDA molecular_function
GO:0016607 nuclear speck
IDA cellular_component
GO:0016890 site-specific endodeoxyri
bonuclease activity, spec
ific for altered base
IDA molecular_function
GO:0016890 site-specific endodeoxyri
bonuclease activity, spec
ific for altered base
IDA molecular_function
GO:0031490 chromatin DNA binding
IDA molecular_function
GO:0043488 regulation of mRNA stabil
ity
IMP biological_process
GO:0044822 poly(A) RNA binding
IDA molecular_function
GO:0045739 positive regulation of DN
A repair
IDA biological_process
GO:0046872 metal ion binding
IDA molecular_function
GO:0048471 perinuclear region of cyt
oplasm
IDA cellular_component
GO:0080111 DNA demethylation
IDA biological_process

KEGG pathways

hsa03410  Base excision repair

Diseases

Associated diseases References
Alzheimer's disease PMID: 18672023
Cancer PMID: 11895912
Chronic obstructive pulmonary disease (COPD) PMID: 19625176
Endometriosis PMID: 25422360
Graves disease PMID: 19711438
Idiopathic male infertility PMID: 25917483
Myocardial infarction PMID: 18712175
Nephropathy PMID: 11096142
Neural tube defects PMID: 15887293
Preeclampsia PMID: 19592152
Endometriosis INFBASE25422360

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25422360 Endometrio
sis
APEX1 D148E (rs1130409) Taiwan
789 (153 endome
triosis patient
s, 636 non-endo
metriosis contr
ols)

Show abstract