APOA1 (apolipoprotein A1)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 335
Gene name Apolipoprotein A1
Gene symbol APOA1
Synonyms (NCBI Gene)
AMYLD3HPALP2apo(a)
Chromosome 11
Chromosome location 11q23.3
Summary 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 t
miRNA miRNA information provided by mirtarbase database.
63
Gene SNPs Transcription factors Other IDs Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT483217 hsa-miR-3179 PAR-CLIP 20371350
MIRT483216 hsa-miR-3202 PAR-CLIP 20371350
MIRT483214 hsa-miR-4747-5p PAR-CLIP 20371350
MIRT483215 hsa-miR-5196-5p PAR-CLIP 20371350
MIRT483217 hsa-miR-3179 PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs Transcription factors Other IDs Associated diseases
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Transcription factor Regulation Reference
FOXA2 Unknown 7961760
GATA6 Unknown 14659877
HNF4A Unknown 7961760
SP1 Unknown 10829013
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
121
Gene SNPs Transcription factors Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IDA 11297421
GO:0001540 Function Amyloid-beta binding IPI 9211985
GO:0001935 Process Endothelial cell proliferation IEA
GO:0002719 Process Negative regulation of cytokine production involved in immune response IDA 12458630
GO:0005102 Function Signaling receptor binding IPI 27477018
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
107680 600 ENSG00000118137
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02647
Protein name Apolipoprotein A-I (Apo-AI) (ApoA-I) (Apolipoprotein A1) [Cleaved into: Proapolipoprotein A-I (ProapoA-I); Truncated apolipoprotein A-I (Apolipoprotein A-I(1-242))]
Protein function Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP comple
PDB 1AV1 , 1GW3 , 1GW4 , 1ODP , 1ODQ , 1ODR , 2MSC , 2MSD , 2MSE , 2N5E , 3K2S , 3R2P , 4V6M , 6CC9 , 6CCH , 6CCX , 6CLZ , 6CM1 , 6PTS , 6PTW , 6W4E , 6W4F , 7KJR , 7RSC , 7RSE , 8EQS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01442 Apolipoprotein 69 → 259 Apolipoprotein A1/A4/E domain Domain
Tissue specificity TISSUE SPECIFICITY: Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in car
Sequence
Sequence length 267
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
370
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (9)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APOLIPOPROTEIN A-I (MARBURG) Pathogenic rs121912716 RCV000019500
APOLIPOPROTEIN A-I (MILANO) Pathogenic rs28931573 RCV000019498
APOLIPOPROTEIN A-I (MUNSTER3C) Pathogenic rs121912720 RCV000019503
APOLIPOPROTEIN A-I (NORWAY) Pathogenic rs121912718 RCV000019502
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
APOA1-related disorder Uncertain significance; Likely benign; Benign rs921646982, rs375529707, rs377207262, rs2540288898, rs902427004, rs113733249, rs750185173 RCV003948845
RCV003903430
RCV004754868
RCV003966525
RCV003892268
RCV003968387
RCV003405374
APOLIPOPROTEIN A-I (BALTIMORE) Uncertain significance rs28929476 RCV000019513
APOLIPOPROTEIN A-I (GIESSEN) Uncertain significance rs121912719 RCV000019499
APOLIPOPROTEIN A-I (MUNSTER3B) Uncertain significance rs121912721 RCV000019504
Show/Hide Text Mining Associations (308)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 10854214, 15337168, 19324996, 21820994, 23233678, 30004693, 30665372, 31341020, 40429650, 7639323, 8675681, 9916936
Abetalipoproteinemia Inhibit 7852858
Abnormalities Drug Induced Associate 6421816
Achalasia Addisonianism Alacrimia syndrome Associate 16403951
Acne Vulgaris Inhibit 12485434
Acute Coronary Syndrome Associate 22675253
Acute Lung Injury Associate 24209603, 24885977
Adenocarcinoma of Lung Associate 39745726
Alveolitis Extrinsic Allergic Inhibit 33016012
Alzheimer Disease Associate 19863188, 23181436, 28943632, 37307028