Apex1 apurinic/apyrimidinic endonuclease 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Apex1provided by MGI
Official Full Name: apurinic/apyrimidinic endonuclease 1provided by MGI
Primary source: MGI:MGI:88042
See related: Ensembl:ENSMUSG00000035960 AllianceGenome:MGI:88042
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: APE; Apex; HAP1; Ref-1
Summary: Predicted to enable several functions, including DNA binding activity; NF-kappaB binding activity; and nuclease activity. Acts upstream of or within cell redox homeostasis. Located in cytoplasm and nucleus. Is expressed in several structures, including alimentary system; autopod; musculoskeletal system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in breast cancer; female reproductive organ cancer (multiple); spina bifida; and urinary bladder cancer. Orthologous to human APEX1 (apurinic/apyrimidinic endodeoxyribonuclease 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 76.3), CNS E14 (RPKM 49.8) and 27 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C1; 14 26.3 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (51162406..51164645)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (50924949..50927188)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Activation of APE1 modulates Nrf2 protected against acute liver injury by inhibit hepatocyte ferroptosis and promote hepatocyte autophagy.
Title: Activation of APE1 modulates Nrf2 protected against acute liver injury by inhibit hepatocyte ferroptosis and promote hepatocyte autophagy.
APE1 promotes embryonic stem cell proliferation and teratoma formation by regulating GDNF/GFRalpha1 axis.
Title: APE1 promotes embryonic stem cell proliferation and teratoma formation by regulating GDNF/GFRα1 axis.
APEX1 Nuclease and Redox Functions are Both Essential for Adult Mouse Hematopoietic Stem and Progenitor Cells.
Title: APEX1 Nuclease and Redox Functions are Both Essential for Adult Mouse Hematopoietic Stem and Progenitor Cells.
APE2 Promotes AID-Dependent Somatic Hypermutation in Primary B Cell Cultures That Is Suppressed by APE1.
Title: APE2 Promotes AID-Dependent Somatic Hypermutation in Primary B Cell Cultures That Is Suppressed by APE1.
APE1/Ref-1 Inhibits Adipogenic Transcription Factors during Adipocyte Differentiation in 3T3-L1 Cells.
Title: APE1/Ref-1 Inhibits Adipogenic Transcription Factors during Adipocyte Differentiation in 3T3-L1 Cells.
A Novel Hypomorphic Apex1 Mouse Model Implicates Apurinic/Apyrimidinic Endonuclease 1 in Oxidative DNA Damage Repair in Gastric Epithelial Cells.
Title: A Novel Hypomorphic Apex1 Mouse Model Implicates Apurinic/Apyrimidinic Endonuclease 1 in Oxidative DNA Damage Repair in Gastric Epithelial Cells.
A DNA repair pathway can regulate transcriptional noise to promote cell fate transitions.
Title: A DNA repair pathway can regulate transcriptional noise to promote cell fate transitions.
APE1 distinguishes DNA substrates in exonucleolytic cleavage by induced space-filling.
Title: APE1 distinguishes DNA substrates in exonucleolytic cleavage by induced space-filling.
Ref-1 displays strong anti-inflammatory activity in lipopolysaccharide-induced septic mice.
Title: The extracellular role of Ref-1 as anti-inflammatory function in lipopolysaccharide-induced septic mice.
Ape1 knockout mice appeared hypothermic with persistent shivering associated with the loss of thermoregulatory serotonergic neurons.
Title: Apurinic endonuclease-1 preserves neural genome integrity to maintain homeostasis and thermoregulation and prevent brain tumors.

Submit: New GeneRIF Correction See all GeneRIFs (58)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Apex1 (e-PCR), detects polymorphism
- UniSTS:525681

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3'-5' exonuclease activity	ISO Inferred from Sequence Orthology more info
enables 3'-5'-DNA exonuclease activity	ISO Inferred from Sequence Orthology more info
enables DNA binding	ISO Inferred from Sequence Orthology more info
enables DNA-(abasic site) binding	ISO Inferred from Sequence Orthology more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-(apurinic or apyrimidinic site) endonuclease activity	ISO Inferred from Sequence Orthology more info
enables NF-kappaB binding	ISO Inferred from Sequence Orthology more info
enables RNA binding	IEA Inferred from Electronic Annotation more info
enables RNA endonuclease activity	ISO Inferred from Sequence Orthology more info
enables catalytic activity	IEA Inferred from Electronic Annotation more info
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables class II DNA-(apurinic or apyrimidinic site) endonuclease activity	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA 3'-5' DNA exonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables double-stranded DNA exodeoxyribonuclease activity	ISO Inferred from Sequence Orthology more info
enables double-stranded telomeric DNA binding	ISO Inferred from Sequence Orthology more info
enables endonuclease activity	IEA Inferred from Electronic Annotation more info
enables exonuclease activity	IEA Inferred from Electronic Annotation more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	ISO Inferred from Sequence Orthology more info
enables nuclease activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	ISO Inferred from Sequence Orthology more info
enables phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands	ISO Inferred from Sequence Orthology more info
enables phosphoric diester hydrolase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphoric diester hydrolase activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables site-specific endodeoxyribonuclease activity, specific for altered base	ISO Inferred from Sequence Orthology more info
enables transcription coactivator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA catabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within DNA damage response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	ISO Inferred from Sequence Orthology more info
involved_in base-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in base-excision repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cell redox homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to hydrogen peroxide	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of smooth muscle cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression via chromosomal CpG island demethylation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in regulation of mRNA stability	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance	ISO Inferred from Sequence Orthology more info
involved_in telomere maintenance via base-excision repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nuclear speck	ISO Inferred from Sequence Orthology more info
located_in nucleolus	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA repair nuclease/redox regulator APEX1

Names: AP endonuclease 1; APEN; APEX nuclease; DNA-(apurinic or apyrimidinic site) endonuclease; DNA-(apurinic or apyrimidinic site) lyase; redox factor-1

NP_033817.1

EC 3.1.11.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009687.2 → NP_033817.1 DNA repair nuclease/redox regulator APEX1

See identical proteins and their annotated locations for NP_033817.1

Status: VALIDATED

Source sequence(s)

AC027184, BC052401

Consensus CDS

CCDS27027.1

UniProtKB/Swiss-Prot

P28352

UniProtKB/TrEMBL

F6QA74, Q544Z7

Related

ENSMUSP00000042602.6, ENSMUST00000049411.12

Conserved Domains (1) summary

cd09087
Location:61 → 315

Ape1-like_AP-endo; Human Ape1-like subfamily of the ExoIII family purinic/apyrimidinic (AP) endonucleases