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Gene : APOA1 Homo sapiens

Name  ? apolipoprotein A1 Cytological Location  11q23.3
Brief Description  apolipoprotein A1
description  This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The encoded preproprotein is proteolytically processed to generate the mature protein, which promotes cholesterol efflux from tissues to the liver for excretion, and is a cofactor for lecithin cholesterolacyltransferase (LCAT), an enzyme responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein. [provided by RefSeq, Dec 2015]
  • synonyms:
  • OTTHUMG00000046112,
  • uc001ppv.2,
  • apolipoprotein A-I,
  • X02162,
  • apo(a),
  • HGNC:600,
  • APOA1,
  • NM_000039
  • identifiers:
  • 335,
  • ENSG00000118137,
  • APOA1

Genome feature

Region: gene ? Length: 2200  
Location: 11:116835751-116837950 reverse strand Cyto location: 11q23.3


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Function

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46 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

46 Pathways

2011 SN Ps

5 Cross References

19 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results