APOA1 (apolipoprotein A1)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
335
Gene name Gene Name - the full gene name approved by the HGNC.
Apolipoprotein A1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
APOA1
Synonyms (NCBI Gene) Gene synonyms aliases
AMYLD3, HPALP2, apo(a)
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
FOXA2 Unknown 7961760
GATA6 Unknown 14659877
HNF4A Unknown 7961760
SP1 Unknown 10829013
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
107680 600 ENSG00000118137
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hypoalphalipoproteinemia Hypoalphalipoproteinemia, primary, 2 rs121912727, rs2134233729, rs121912723, rs387906570, rs121912725 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyloidosis familial visceral amyloidosis N/A N/A GenCC
Apolipoprotein A1 Deficiency apolipoprotein a-i deficiency N/A N/A ClinVar
Dermatitis Atopic dermatitis N/A N/A GWAS
Kidney Disease Chronic kidney disease N/A N/A ClinVar
Show/Hide Text Mining Associations (308)
Associations from Text Mining Disease 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