ENSMUSG00000035960


Mus musculus

Features
Gene ID: ENSMUSG00000035960
  
Biological name :Apex1
  
Synonyms : Apex1 / DNA-(apurinic or apyrimidinic site) lyase DNA-(apurinic or apyrimidinic site) lyase, mitochondrial / P28352
  
Possible biological names infered from orthology : apurinic/apyrimidinic endodeoxyribonuclease 1 / P27695
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: C1
Gene start: 50924968
Gene end: 50927139
  
Corresponding Affymetrix probe sets: 10414522 (MoGene1.0st)   1416135_at (Mouse Genome 430 2.0 Array)   1437715_x_at (Mouse Genome 430 2.0 Array)   1456079_x_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000116319
Ensembl peptide - ENSMUSP00000123148
Ensembl peptide - ENSMUSP00000122343
Ensembl peptide - ENSMUSP00000042602
NCBI entrez gene - 11792     See in Manteia.
MGI - MGI:88042
RefSeq - NM_009687
RefSeq Peptide - NP_033817
swissprot - P28352
swissprot - D3Z6R9
swissprot - Q544Z7
swissprot - D3Z124
swissprot - F6QA74
Ensembl - ENSMUSG00000035960
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 apex1ENSDARG00000045843Danio rerio
 APEX1ENSG00000100823Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Apex2 / Q68G58 / DNA-(apurinic or apyrimidinic site) lyase 2 / Q9UBZ4* / apurinic/apyrimidinic endodeoxyribonuclease 2*ENSMUSG0000002526925


Protein motifs (from Interpro)
Interpro ID Name
 IPR004808  AP endonuclease 1
 IPR005135  Endonuclease/exonuclease/phosphatase
 IPR020847  AP endonuclease 1, binding site
 IPR020848  AP endonuclease 1, conserved site
 IPR036691  Endonuclease/exonuclease/phosphatase superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006284 base-excision repair IEA
 biological_processGO:0006310 DNA recombination IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0010243 response to organonitrogen compound IEA
 biological_processGO:0014912 negative regulation of smooth muscle cell migration IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0042981 regulation of apoptotic process IEA
 biological_processGO:0043488 regulation of mRNA stability IEA
 biological_processGO:0045454 cell redox homeostasis IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0071320 cellular response to cAMP IEA
 biological_processGO:0071375 cellular response to peptide hormone stimulus IEA
 biological_processGO:0071417 cellular response to organonitrogen compound IEA
 biological_processGO:0080111 DNA demethylation IEA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 biological_processGO:0090502 RNA phosphodiester bond hydrolysis, endonucleolytic IEA
 biological_processGO:0097698 telomere maintenance via base-excision repair IEA
 biological_processGO:1900087 positive regulation of G1/S transition of mitotic cell cycle IEA
 biological_processGO:1903506 regulation of nucleic acid-templated transcription IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005667 transcription factor complex IEA
 cellular_componentGO:0005730 nucleolus ISS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0016607 nuclear speck ISO
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003684 damaged DNA binding IEA
 molecular_functionGO:0003691 double-stranded telomeric DNA binding IEA
 molecular_functionGO:0003713 transcription coactivator activity IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0003906 DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004519 endonuclease activity IEA
 molecular_functionGO:0004521 endoribonuclease activity IEA
 molecular_functionGO:0004527 exonuclease activity IEA
 molecular_functionGO:0008081 phosphoric diester hydrolase activity IEA
 molecular_functionGO:0008309 double-stranded DNA exodeoxyribonuclease activity IEA
 molecular_functionGO:0008311 double-stranded DNA 3"-5" exodeoxyribonuclease activity IBA
 molecular_functionGO:0008408 3"-5" exonuclease activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016829 lyase activity IEA
 molecular_functionGO:0016890 site-specific endodeoxyribonuclease activity, specific for altered base IEA
 molecular_functionGO:0031490 chromatin DNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051059 NF-kappaB binding IEA
 molecular_functionGO:0140078 class I DNA-(apurinic or apyrimidinic site) endonuclease activity IEA
 molecular_functionGO:0140080 class III/IV DNA-(apurinic or apyrimidinic site) endonuclease activity IEA


Pathways (from Reactome)
Pathway description
Displacement of DNA glycosylase by APEX1
POLB-Dependent Long Patch Base Excision Repair
Resolution of AP sites via the multiple-nucleotide patch replacement pathway
PCNA-Dependent Long Patch Base Excision Repair
Abasic sugar-phosphate removal via the single-nucleotide replacement pathway
Resolution of Abasic Sites (AP sites)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000313 abnormal cell death "anomalous cessation of function at the cellular level" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001672 abnormal embryogenesis/ development "anomaly in the establishment of the characteristic configuration of the embryonic body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0001718 abnormal yolk sac "malformed extraembryonic tissue which contributes to hematopoietic circulation" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:12623]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0001853 heart inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the heart" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0001856 myocarditis "inflammation of the heart walls" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0001857 pericarditis "inflammation of the pericaridum, the fibroserous sac surrounding the heart and the roots of the great vessels" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0002007 increased sensitivity to gamma-irradiation "increased incidence of cell death following high levels of gamma-irradiation" [J:51834]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0002020 increased tumor incidence "greater than average number of tumors, usually a specific type" [MGI:cls, J:34193]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

Allelic Composition: Apex1tm1Ecf/Apex1+,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129

 MP:0002032 sarcoma "connective tissue neoplasm associated with the proliferation of mesodermal cells" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0002038 carcinoma "malignant neoplasm arising from epithelial cells, usually glandular or squamous" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:58877]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Bmp4tm2Blh/Bmp4+
Genetic Background: involves: 129S6/SvEvTac * Black Swiss

 MP:0002216 abnormal seminiferous tubule morphology "malformation of the tubules in the testes where spermatogenesis occurs" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003025 increased vascular smooth muscle contraction "greater ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0003026 decreased vascular smooth muscle contraction "reduced ability to constrict the nonstriated, involuntary muscle tissue of the blood vessels" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0003141 cardiac fibrosis "formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0003638 abnormal response/metabolism to endogenous compounds "altered ability or inability to metabolize or respond to substances normally present in the body" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0003674 oxidative stress "condition characterized by an accumulation of free radical groups in the body, which creates a potentially unstable and damaging cellular environment linked to tissue damage, accelerated aging, and degenerative disease; can result from many factors, including exposure to alcohol, medications, poor nutrition, trauma, cold or toxins; may be indicated by low antioxidant levels measured in blood plasma" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Apex1tm1Ecf/Apex1+,Xpctm1Ecf/Xpctm1Ecf
Genetic Background: involves: 129

 MP:0003886 abnormal embryonic epiblast morphology "anomaly in the development/organization of the tissue that gives rise to the ectoderm, endoderm and mesoderm of the embryo proper" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0003957 abnormal nitric oxide homeostasis "anomaly in the state of equilibrium in the body of nitric oxide, a free radical gas and a potent vasodilator" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0003984 embryonic growth retardation "slow or limited development before birth" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0004875 increased mean arterial blood pressure "increase in the average arterial pressure during a single cardiac cycle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0004883 abnormal blood vessel healing "anomaly in the repair process of blood vessels after injury" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005591 decreased vasodilation "less than the expected or normal widening of the lumen of the blood vessels" [RGD:Rat Genome Database submission, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005595 abnormal vascular smooth muscle physiology "anomalous function of the nonstriated, involuntary muscle tissue of the blood vessels" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0005621 abnormal cell physiology "aberration in the vital processes of the cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0008058 abnormal DNA repair "any anomaly in the process of restoring DNA after damage or replication error" [GO:0006281]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0008411 decreased cellular sensitivity to ultraviolet irradiation "reduced incidence of cell death following exposure to ultraviolet irradiation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0008412 increased cellular sensitivity to oxidative stress "greater incidence of cell death or enhanced production of reactive oxygen species after exposure to a variety of stress conditions including ionizing radiation, exposure to xenobiotics, inflammation, and phagocytosis" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0008593 increased circulating interleukin-10 level "increase in the amount in the blood of a cytokine produced by a variety of cell types, including T-cells, monocytes, dendritic cells and epithelial cells that exerts a variety of effects on immunoregulation and inflammation" [MESH:D12.644.276.374.465.510]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0008638 increased circulating interleukin-1 alpha level "increase in the amount in the blood of an interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form; both membrane-bound and secreted forms of interleukin-1alpha are biologically active" [MESH:D12.644.276.374.465.501.300]
Show

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
Show

Allelic Composition: Airetm1Mmat/Airetm1Mmat
Genetic Background: B6.Cg-Airetm1Mmat

Allelic Composition: Apex1tm1Cur/Apex1tm1Cur
Genetic Background: involves: 129S1/Sv * C57BL/6J

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

 MP:0011191 increased embryonic epiblast cell apoptosis "increase in the number of embryonic epiblast cells undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Cd14tm1Smg/Cd14tm1Smg
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0012431 increased lymphoma incidence "greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period" [http://orcid.org/0000-0001-5208-3432, MGI:csmith]
Show

Allelic Composition: H2-DMatm1Lkrl/H2-DMatm1Lkrl
Genetic Background: involves: 129P2/OlaHsd

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000000751 Rpa1 / Q8VEE4 / Replication protein A 70 kDa DNA-binding subunit / P27694* / replication protein A1*  / reaction / complex
 ENSMUSG00000020287 Mpg / Q04841 / N-methylpurine-DNA glycosylase / P29372*  / reaction
 ENSMUSG00000012483 Rpa3 / Q9CQ71 / Replication protein A 14 kDa subunit / P35244* / replication protein A3*  / complex / reaction
 ENSMUSG00000024742 Fen1 / flap structure-specific endonuclease 1 / P39748*  / reaction / complex
 ENSMUSG00000024854 Pold4 / Q9CWP8 / polymerase (DNA-directed), delta 4 / Q9HCU8* / AP003419.1* / DNA polymerase delta 4, accessory subunit*  / complex / reaction
 ENSMUSG00000031536 Polb / Q8K409 / polymerase (DNA directed), beta / P06746* / DNA polymerase beta*  / reaction / complex
 ENSMUSG00000030322 Mbd4 / methyl-CpG binding domain 4, DNA glycosylase / O95243*  / reaction
 ENSMUSG00000030271 Ogg1 / O08760 / 8-oxoguanine DNA-glycosylase 1 / O15527* / 8-oxoguanine DNA glycosylase*  / reaction
 ENSMUSG00000029591 Ung / P97931 / uracil DNA glycosylase / P13051*  / reaction
 ENSMUSG00000027342 Pcna / P17918 / proliferating cell nuclear antigen / P12004*  / reaction / complex
 ENSMUSG00000036061 Smug1 / Q6P5C5 / Single-strand selective monofunctional uracil DNA glycosylase / Q53HV7* / single-strand-selective monofunctional uracil-DNA glycosylase 1*  / reaction
 ENSMUSG00000038644 Pold1 / P52431 / polymerase (DNA directed), delta 1, catalytic subunit / P28340* / DNA polymerase delta 1, catalytic subunit*  / reaction / complex
 ENSMUSG00000041429 Nthl1 / O35980 / nth (endonuclease III)-like 1 (E.coli) / P78549* / nth like DNA glycosylase 1*  / reaction
 ENSMUSG00000056394 Lig1 / ligase I, DNA, ATP-dependent / P18858* / DNA ligase 1*  / complex / reaction
 ENSMUSG00000034674 Tdg / P56581 / Mus musculus thymine DNA glycosylase (Tdg), transcript variant 3, mRNA. / Q13569* / thymine DNA glycosylase*  / reaction
 ENSMUSG00000026496 Parp1 / poly (ADP-ribose) polymerase family, member 1 / P09874* / poly(ADP-ribose) polymerase 1*  / reaction
 ENSMUSG00000020471 Pold2 / O35654 / polymerase (DNA directed), delta 2, regulatory subunit / P49005* / DNA polymerase delta 2, accessory subunit*  / reaction / complex
 ENSMUSG00000028884 Rpa2 / replication protein A2 / P15927*  / complex / reaction
 ENSMUSG00000028687 Mutyh / Q99P21 / Adenine DNA glycosylase / Q9UIF7* / mutY DNA glycosylase*  / reaction






 

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