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Gene : ACE Homo sapiens

Name  ? angiotensin I converting enzyme Cytological Location  17q23.3
Brief Description  angiotensin I converting enzyme
description  This gene encodes an enzyme involved in catalyzing the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This enzyme plays a key role in the renin-angiotensin system. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme or cardiovascular pathophysiologies. Multiple alternatively spliced transcript variants encoding different isoforms have been identified, and two most abundant spliced variants encode the somatic form and the testicular form, respectively, that are equally active. [provided by RefSeq, May 2010]
  • synonyms:
  • CD143,
  • ACE,
  • DCP,
  • DCP1,
  • NM_000789,
  • OTTHUMG00000154927,
  • J04144,
  • DCP1,
  • ACE1,
  • ACE1,
  • angiotensin I converting enzyme (peptidyl-dipeptidase A) 1,
  • CD143,
  • peptidyl-dipeptidase A,
  • uc002jau.4,
  • HGNC:2707
  • identifiers:
  • 1636,
  • ENSG00000159640,
  • ACE

Genome feature

Region: gene ? Length: 21320  
Location: 17:63477061-63498380 Cyto location: 17q23.3


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 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

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Interactions

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Expression

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

Gene Ontology

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Other

651 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results