Male Infertility Database

Search Result

Gene id

328

Gene Summary SNPs Protein Summary Gene ontology Diseases PubMed

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 apyrimidin,

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

OMIM

107748

SNPs

rs10762738

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.76935709A>G
NC_000010.10   g.78695467A>G
NG_012270.1   g.707111T>C|SEQ=[A/G]|GENE=KCNMA1
KCNMA1-AS1   101929328

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

Interpro:	IPR004808 IPR020847 IPR020848 IPR036691 IPR005135
Prosite:	PS00726 PS00727 PS00728 PS51435
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:
STRING:	ENSP00000216714

Other Databases

GeneCards: APEX1 Malacards: APEX1

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go 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

Diseases

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Associated diseases	References
Cancer	GAD: 11895912
Cancer (Adenocarcinoma)	GAD: 18478337
Cancer (Adenoma)	GAD: 18091433
Cancer (Aerodigestive tract)	GAD: 17040931
Cancer (Biliary tract neoplasms)	GAD: 17984110
Cancer (bladder)	GAD: 16425270
Cancer (brain)	GAD: 19124499
Cancer (melanoma)	GAD: 16621887
Cancer (pancreatic)	GAD: 17230526
Cancer (prostate)	GAD: 16406883
Cancer (stomach)	GAD: 20530453
Cancer (cervical)	GAD: 18505345
Cancer (colorectal)	GAD: 14767913
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (esophageal)	GAD: 19339270
Cancer (head and neck)	GAD: 17614107
Cancer (Hematologic)	GAD: 20226869
Cancer (leukemia)	GAD: 14625810
Cancer (lung)	GAD: 15333465
Cancer (lymphoma)	GAD: 18830263
Cancer (breast)	GAD: 15113441
Apoplexy	GAD: 17630376
Myocardial Infarction	GAD: 18712175
Cardiovascular disease	GAD: 18712175
Cleft defects	GAD: 15887293
Neural tube defects	GAD: 15887293
Cleft defects	GAD: 20634891
Graves disease	GAD: 19711438
Pterygium	GAD: 20577654
Multiple sclerosis	GAD: 20522537
Stroke	GAD: 18712175
Alzheimer's disease	GAD: 18672023
Chronic renal failure	GAD: 21085059
Preeclampsia	GAD: 19592152
Endometriosis	GAD: 20391347
Female infertility	INFBASE: 25422360
Male factor infertility	MIK: 25917483
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Nephropathy	GAD: 11096142
Idiopathic male�infertility	MIK: 25917483
Unexplained infertility	MIK: 25753583

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25917483	Idiopathic male�infe rtility	ApE1 (-656T>G and 1349T>G)		300 (180 patien ts diagnosed wi th idiopathic m ale infertility , 120 controls)	Male infertility		Show abstract
25753583	Unexplaine d infertil ity			46 (17 fertile men, 29 male pa tients)	Male infertility	Microarray	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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Diseases Expand All | Collapse All

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PubMed references

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Diseases

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