help  | about  | cite  | software

Gene : APEX1 Homo sapiens

Name  ? apurinic/apyrimidinic endodeoxyribonuclease 1 Cytological Location  14q11.2
Brief Description  apurinic/apyrimidinic endodeoxyribonuclease 1
Description  The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]
  • synonyms:
  • NM_001641,
  • APEX nuclease (multifunctional DNA repair enzyme) 1,
  • APEX,
  • APE1,
  • HAP1,
  • uc001vxi.4,
  • X59764,
  • REF1,
  • APE,
  • OTTHUMG00000029544,
  • APE-1,
  • APEX1,
  • APEN,
  • APE,
  • APX,
  • HGNC:587,
  • APX,
  • APEX,
  • REF1,
  • HAP1,
  • APEX nuclease (multifunctional DNA repair enzyme),
  • REF-1,
  • APEN
  • identifiers:
  • 328,
  • ENSG00000100823,
  • APEX1

Genome feature

Region: gene ? Length: 2542  
Location: 14:20455226-20457767 Cyto location: 14q11.2


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

125 SN Ps

5 Cross References

16 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results