GenAge entry for APEX1 (Homo sapiens)

Gene name (HAGRID: 195)

HGNC symbol
APEX1 
Aliases
APE; REF1; HAP1; APX; APEN; REF-1; APE-1; APEX 
Common name
APEX nuclease (multifunctional DNA repair enzyme) 1 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description

APEX1 repairs oxidative DNA damage. Disruption of APEX1 in mice results in embryonic lethality [854]. Heterozygous mice had an elevated spontaneous mutation frequency [1732]. Whether APEX1 is involved in human ageing remains to be established.

Cytogenetic information

Cytogenetic band
14q11.2
Location
20,455,131 bp to 20,457,772 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0006281; DNA repair
GO:0006284; base-excision repair
GO:0006310; DNA recombination
GO:0006351; transcription, DNA-templated
GO:0006355; regulation of transcription, DNA-dependent
GO:0007568; aging
GO:0014912; negative regulation of smooth muscle cell migration
GO:0042493; response to drug
GO:0043488; regulation of mRNA stability
GO:0045454; cell redox homeostasis
GO:0045739; positive regulation of DNA repair
And 6 more GO terms
Cellular component: GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005667; transcription factor complex
GO:0005730; nucleolus
GO:0005737; cytoplasm
GO:0005739; mitochondrion
GO:0005783; endoplasmic reticulum
GO:0005813; centrosome
GO:0005840; ribosome
GO:0016607; nuclear speck
GO:0048471; perinuclear region of cytoplasm
And 1 more GO terms
Function: GO:0003677; DNA binding
GO:0003684; damaged DNA binding
GO:0003713; transcription coactivator activity
GO:0003714; transcription corepressor activity
GO:0003723; RNA binding
GO:0003906; DNA-(apurinic or apyrimidinic site) lyase activity
GO:0004519; endonuclease activity
GO:0004520; endodeoxyribonuclease activity
GO:0004523; ribonuclease H activity
GO:0004528; phosphodiesterase I activity
GO:0004844; uracil DNA N-glycosylase activity
And 10 more GO terms
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, TXN, UBE2I, PCNA, FEN1, XRCC6, HSPA1A, HMGB2
STRING interaction network
Protein-Protein network diagram for APEX1

Retrieve sequences for APEX1

Promoter
Promoter
ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
exo-3
Danio rerio
apex1
Mus musculus
Apex1
Rattus norvegicus
Apex1

In other databases

GenAge model organism genes
  • A homolog of this gene for Caenorhabditis elegans is present as exo-3
LongevityMap
  • This gene is present as APEX1

Selected references

External links

EPD
HS_APEX1
ORF Accession
NM_001641
CDS Accession
NP_001632
OMIM
107748
HPRD
00136
Ensembl
APEX1
UniProt/Swiss-Prot
APEX1_HUMAN
GeneCards
APEX1
Entrez Gene
328
UniGene
73722
GenAtlas
APEX1
Internet
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