APOA1 Gene (Protein Coding)

Apolipoprotein A1

GC11M116835
GIFtS:
49
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 fo... See more...

Aliases for APOA1 Gene

Aliases for APOA1 Gene

  • Apolipoprotein A1 2 3 4 5
  • Apolipoprotein A-I 2 3 4
  • Apo-AI 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • HPALP2 3
  • Apo(A) 3
  • ApoA-I 4
  • APOA1 5

External Ids for APOA1 Gene

Previous GeneCards Identifiers for APOA1 Gene

  • GC11M119059
  • GC11M118218
  • GC11M116740
  • GC11M116244
  • GC11M116211
  • GC11M116706
  • GC11M112638

Summaries for APOA1 Gene

Entrez Gene Summary for APOA1 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 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]

GeneCards Summary for APOA1 Gene

APOA1 (Apolipoprotein A1) is a Protein Coding gene. Diseases associated with APOA1 include Hypoalphalipoproteinemia, Primary, 2 and Amyloidosis, Familial Visceral. Among its related pathways are Lipoprotein metabolism and Statin Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and lipid binding. An important paralog of this gene is APOA5.

UniProtKB/Swiss-Prot Summary for APOA1 Gene

  • 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 complex, activates spermatozoa motility.

Gene Wiki entry for APOA1 Gene

Additional gene information for APOA1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOA1 Gene

Genomics for APOA1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for APOA1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOA1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOA1

Top Transcription factor binding sites by QIAGEN in the APOA1 gene promoter:
  • C/EBPalpha
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for APOA1 Gene

Latest Assembly
chr11:116,835,751-116,837,950
(GRCh38/hg38)
Size:
2,200 bases
Orientation:
Minus strand

Previous Assembly
chr11:116,706,467-116,708,666
(GRCh37/hg19 by Entrez Gene)
Size:
2,200 bases
Orientation:
Minus strand

chr11:116,706,467-116,708,666
(GRCh37/hg19 by Ensembl)
Size:
2,200 bases
Orientation:
Minus strand

Genomic View for APOA1 Gene

Genes around APOA1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOA1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOA1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for APOA1 Gene

Proteins for APOA1 Gene

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  • Protein details for APOA1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02647-APOA1_HUMAN
    Recommended name:
    Apolipoprotein A-I
    Protein Accession:
    P02647
    Secondary Accessions:
    • A8K866
    • Q6LDN9
    • Q6Q785
    • Q9UCS8
    • Q9UCT8

    Protein attributes for APOA1 Gene

    Size:
    267 amino acids
    Molecular mass:
    30778 Da
    Quaternary structure:
    • Interacts with APOA1BP and CLU (PubMed:1742316, PubMed:11991719). Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin (PubMed:1909888). Interacts with NDRG1 (PubMed:15922294). Interacts with SCGB3A2 (PubMed:12847263). Interacts with NAXE and YJEFN3 (PubMed:23719382).

    Three dimensional structures from OCA and Proteopedia for APOA1 Gene

neXtProt entry for APOA1 Gene

Protein Expression for APOA1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for APOA1 Gene

Other Protein References for APOA1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for APOA1 Gene

Domains & Families for APOA1 Gene

Gene Families for APOA1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for APOA1 Gene

InterPro:
Blocks:
  • Apolipoprotein A1/A4/E

Suggested Antigen Peptide Sequences for APOA1 Gene

GenScript: Design optimal peptide antigens:
  • Apolipoprotein A1 (APOA1_HUMAN)
  • APOA1 protein (Q6LEJ8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02647

UniProtKB/Swiss-Prot:

APOA1_HUMAN :
  • Belongs to the apolipoprotein A1/A4/E family.
Family:
  • Belongs to the apolipoprotein A1/A4/E family.
genes like me logo Genes that share domains with APOA1: view

Function for APOA1 Gene

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  6. Cell Lines for research

Molecular function for APOA1 Gene

UniProtKB/Swiss-Prot 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 complex, activates spermatozoa motility.
GENATLAS Biochemistry:
apolipoprotein A-I (see HDLA@),major protein of HDL,involved in the reverse transport of cholesterol from tissues to liver

Phenotypes From GWAS Catalog for APOA1 Gene

Gene Ontology (GO) - Molecular Function for APOA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding IDA,IPI 9211985
GO:0005102 signaling receptor binding IPI 27477018
GO:0005319 lipid transporter activity IEA --
GO:0005515 protein binding IPI 1587806
GO:0005543 phospholipid binding IDA 12810715
genes like me logo Genes that share ontologies with APOA1: view
genes like me logo Genes that share phenotypes with APOA1: view

Human Phenotype Ontology for APOA1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APOA1 Gene

MGI Knock Outs for APOA1:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOA1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APOA1 Gene

Localization for APOA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOA1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOA1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 4
endoplasmic reticulum 4
endosome 4
cytoskeleton 2
mitochondrion 2
peroxisome 2
lysosome 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for APOA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region HDA,TAS --
GO:0005615 extracellular space IDA,ISS 22261194
GO:0005634 nucleus IEA --
GO:0005769 early endosome TAS --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with APOA1: view

Pathways & Interactions for APOA1 Gene

genes like me logo Genes that share pathways with APOA1: view

Pathways by source for APOA1 Gene

1 PharmGKB pathway for APOA1 Gene
1 GeneGo (Thomson Reuters) pathway for APOA1 Gene
  • Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)
1 Cell Signaling Technology pathway for APOA1 Gene

SIGNOR curated interactions for APOA1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for APOA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0001935 endothelial cell proliferation IEA --
GO:0002576 platelet degranulation TAS --
GO:0002719 negative regulation of cytokine production involved in immune response IDA 12458630
genes like me logo Genes that share ontologies with APOA1: view

Drugs & Compounds for APOA1 Gene

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(83) Drugs for APOA1 Gene - From: DrugBank, PharmGKB, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fenofibrate Approved Pharma PPARalpha agonist 190
cholesterol Approved, Investigational Pharma 0
Copper Approved, Investigational Pharma Target 276
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0

(49) Additional Compounds for APOA1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Torvoside G
  • 1,2,3-Propanetriyl tripentadecanoate, 9ci
  • 1-Pentadecanoyl-2-pentadecanoyl-3-pentadecanoyl-glycerol
  • Glycerol tripentadecanoate
  • TAG(15:0/15:0/15:0)
  • TAG(45:0)
 184777-22-8, 30719-27-8
Triglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-3-myristoleoyl-glycerol
  • 1-Tetradecanoyl-2-pentadecanoyl-3-(9Z-tetradecenoyl)-glycerol
  • TAG(14:0/15:0/14:1)
  • TAG(43:1)
  • TG(14:0/15:0/14:1)
 555-45-3, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group C
  • 2,3-Di(octadecanoyloxy)propyl octadecanoate
  • Glyceryl tristearate
  • Stearic acid triglycerin ester
  • Stearin
  • Trioctadecanoin
 620-64-4
genes like me logo Genes that share compounds with APOA1: view

Transcripts for APOA1 Gene

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mRNA/cDNA for APOA1 Gene

4 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOA1

Alternative Splicing Database (ASD) splice patterns (SP) for APOA1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: - -
SP2: -
SP3:
SP4: -
SP5: - -

Relevant External Links for APOA1 Gene

GeneLoc Exon Structure for
APOA1

Expression for APOA1 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOA1 Gene

mRNA expression in normal human tissues for APOA1 Gene
mRNA expression by BioGPS for APOA1 GenemRNA expression by GTEx for APOA1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for APOA1 Gene

This gene is overexpressed in Liver (x49.8).

Protein differential expression in normal tissues from HIPED for APOA1 Gene

This gene is overexpressed in Plasma (15.6), Synovial fluid (11.7), and Serum (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for APOA1 Gene



Protein tissue co-expression partners for APOA1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOA1

SOURCE GeneReport for Unigene cluster for APOA1 Gene:

Hs.93194

mRNA Expression by UniProt/SwissProt for APOA1 Gene:

P02647-APOA1_HUMAN
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 carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease.

Evidence on tissue expression from TISSUES for APOA1 Gene

  • Heart(5)
  • Liver(5)
  • Blood(4.7)
  • Muscle(4.6)
  • Nervous system(4.6)
  • Spleen(3.7)
  • Kidney(3.6)
  • Intestine(3.1)
  • Lung(2.7)
  • Pancreas(2.6)
  • Adrenal gland(2.5)
  • Skin(2.5)
  • Eye(2.5)
  • Gall bladder(2.4)
  • Urine(2.2)
  • Thyroid gland(2.2)
  • Stomach(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APOA1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
Thorax:
  • heart
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ureter
  • urinary bladder
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with APOA1: view

Orthologs for APOA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOA1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia APOA1 29 30
  • 99.75 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia APOA1 29 30
  • 87.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia APOA1 29 30
  • 84.91 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Apoa1 29 16 30
  • 76.52 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Apoa1 29
  • 73.77 (n)
Oppossum
(Monodelphis domestica)
 Mammalia APOA1 30
  • 42 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia APOA1 30
  • 31 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves APOA1 29 30
  • 62.86 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 30
  • 24 (a)
 ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia apoa1 29
  • 51.35 (n)
Zebrafish
(Danio rerio)
 Actinopterygii apoa1b 29 30
  • 51.66 (n)
 OneToMany
apoa1a 30
  • 24 (a)
 OneToMany
Species where no ortholog for APOA1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for APOA1 Gene

ENSEMBL:
Gene Tree for APOA1 (if available)
TreeFam:
Gene Tree for APOA1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOA1: view image
Alliance of Genome Resources:
Additional Orthologs for APOA1

Paralogs for APOA1 Gene

Paralogs for APOA1 Gene

genes like me logo Genes that share paralogs with APOA1: view

Variants for APOA1 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for APOA1 Gene

APOA1_HUMAN-P02647
Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIM:107680].

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOA1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
877608 Likely Benign: Familial visceral amyloidosis, Ostertag type; Familial hypoalphalipoproteinemia 116,835,791(-) G/A
NM_000039.3(APOA1):c.*17C>T 		THREE_PRIME_UTR
877609 Uncertain Significance: Familial visceral amyloidosis, Ostertag type; Familial hypoalphalipoproteinemia 116,835,907(-) G/C
NM_000039.3(APOA1):c.705C>G (p.Leu235=) 		SYNONYMOUS
877657 Uncertain Significance: Familial visceral amyloidosis, Ostertag type; Familial hypoalphalipoproteinemia 116,837,613(-) C/T
NM_000039.3(APOA1):c.-29G>A 		FIVE_PRIME_UTR
878622 Uncertain Significance: Familial visceral amyloidosis, Ostertag type; Familial hypoalphalipoproteinemia 116,835,935(-) G/A
NM_000039.3(APOA1):c.677C>T (p.Thr226Met) 		MISSENSE
879222 Uncertain Significance: Familial visceral amyloidosis, Ostertag type; Familial hypoalphalipoproteinemia 116,836,165(-) C/T
NM_000039.3(APOA1):c.447G>A (p.Glu149=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for APOA1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for APOA1 Gene

Residual Variation Intolerance Score: 35.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOA1 Gene

Human Gene Mutation Database (HGMD)
APOA1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOA1
Leiden Open Variation Database (LOVD)
APOA1

SNP Genotyping and Copy Number Assays for research

No data available for Structural Variations from Database of Genomic Variants (DGV) for APOA1 Gene

Disorders for APOA1 Gene

MalaCards: The human disease database

(93) MalaCards diseases for APOA1 Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
hypoalphalipoproteinemia, primary, 2
  • apolipoprotein a-i deficiency