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Aliases for APOA1 Gene

Aliases for APOA1 Gene

  • Apolipoprotein A-I 2 3
  • Apo-AI 3 4
  • Apolipoprotein A1 4
  • ApoA-I 4

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 protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for APOA1 Gene

APOA1 (Apolipoprotein A-I) is a Protein Coding gene. Diseases associated with APOA1 include hypoalphalipoproteinemia and apoa1-related familial visceral amyloidosis. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include identical protein binding and enzyme binding. An important paralog of this gene is APOA4.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOA1 Gene

Genomics for APOA1 Gene

Regulatory Elements for APOA1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for APOA1 Gene

Start:
116,835,751 bp from pter
End:
116,837,950 bp from pter
Size:
2,200 bases
Orientation:
Minus strand

Genomic View for APOA1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APOA1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOA1 Gene

Proteins for APOA1 Gene

  • 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. Component of a sperm activating protein complex (SPAP), consisting of APOA1, an immunoglobulin heavy chain, an immunoglobulin light chain and albumin. Interacts with NDRG1.

    Three dimensional structures from OCA and Proteopedia for APOA1 Gene

neXtProt entry for APOA1 Gene

Proteomics data for APOA1 Gene at MOPED

Post-translational modifications for APOA1 Gene

Other Protein References for APOA1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for APOA1 (Apolipoprotein A-I/ApoA1)
  • Cell Signaling Technology (CST) Antibodies for APOA1 (APOA1)

Protein Products

No data available for DME Specific Peptides for APOA1 Gene

Domains for APOA1 Gene

Gene Families for APOA1 Gene

HGNC:

Protein Domains for APOA1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for APOA1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02647

UniProtKB/Swiss-Prot:

APOA1_HUMAN :
  • P02647
Family:
  • Belongs to the apolipoprotein A1/A4/E family.
genes like me logo Genes that share domains with APOA1: view

Function for APOA1 Gene

Molecular function for APOA1 Gene

GENATLAS Biochemistry:
apolipoprotein A-I (see HDLA@),major protein of HDL,involved in the reverse transport of cholesterol from tissues to liver
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.

Gene Ontology (GO) - Molecular Function for APOA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 beta-amyloid binding IDA 11297421
GO:0005319 lipid transporter activity --
GO:0005515 protein binding IPI 11297421
GO:0005543 phospholipid binding IDA 12810715
GO:0005548 phospholipid transporter activity IEA --
genes like me logo Genes that share ontologies with APOA1: view
genes like me logo Genes that share phenotypes with APOA1: view

Animal Models for APOA1 Gene

MGI Knock Outs for APOA1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APOA1

In Situ Assay Products

Flow Cytometry Products

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

Localization for APOA1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOA1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOA1 Gene COMPARTMENTS Subcellular localization image for APOA1 gene
Compartment Confidence
extracellular 5
cytosol 4
endoplasmic reticulum 4
endosome 4
plasma membrane 4
nucleus 2
peroxisome 2
cytoskeleton 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for APOA1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space 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 for APOA1 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0002740 negative regulation of cytokine secretion involved in immune response IDA 12458630
genes like me logo Genes that share ontologies with APOA1: view

Compounds for APOA1 Gene

(1) HMDB Compounds for APOA1 Gene

Compound Synonyms Cas Number PubMed IDs
Cholesterol
  • (+)-ent-Cholesterol
57-88-5

(121) Novoseek inferred chemical compound relationships for APOA1 Gene

Compound -log(P) Hits PubMed IDs
cholesterol 94.6 377
lipid 88.8 272
phospholipid 77.1 147
cholesterol ester 75.1 31
torcetrapib 72.2 6

(1) PharmGKB related drug/compound annotations for APOA1 Gene

Drug/compound Annotation
fenofibrate CA
genes like me logo Genes that share compounds with APOA1: view

Transcripts for APOA1 Gene

mRNA/cDNA for APOA1 Gene

Unigene Clusters for APOA1 Gene

Apolipoprotein A-I:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for APOA1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
APOA1

Expression for APOA1 Gene

mRNA expression in normal human tissues 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 (49.8).

Protein differential expression in normal tissues for APOA1 Gene

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

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APOA1 Gene

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.
genes like me logo Genes that share expressions with APOA1: view

Expression partners for APOA1 Gene

In Situ Assay Products

Orthologs for APOA1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for APOA1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APOA1 35
  • 84.91 (n)
  • 79.25 (a)
APOA1 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APOA1 35
  • 87.84 (n)
  • 85.34 (a)
APOA1 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apoa1 35
  • 76.52 (n)
  • 65.91 (a)
Apoa1 16
Apoa1 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia APOA1 35
  • 99.75 (n)
  • 100 (a)
APOA1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apoa1 35
  • 73.77 (n)
  • 64.73 (a)
oppossum
(Monodelphis domestica)
Mammalia APOA1 36
  • 42 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOA1 36
  • 31 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOA1 35
  • 62.86 (n)
  • 50.19 (a)
APOA1 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 24 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia apoa1 35
  • 51.35 (n)
  • 40.54 (a)
zebrafish
(Danio rerio)
Actinopterygii apoa1b 35
  • 51.66 (n)
  • 33.77 (a)
apoa1a 36
  • 24 (a)
OneToMany
apoa1b 36
  • 21 (a)
OneToMany
Species with no ortholog for APOA1:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for APOA1 Gene

Paralogs for APOA1 Gene

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

Variants for APOA1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOA1 Gene

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

Sequence variations from dbSNP and Humsavar for APOA1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs670 -- 116,837,697(-) GGGCC(A/G)GGGCT upstream-variant-2KB
rs4882 - 116,836,220(-) GAAGA(A/T)GTGGC reference, missense
rs5069 -- 116,837,538(-) CAGGC(C/T)GGGCC intron-variant, utr-variant-5-prime
rs5070 -- 116,837,304(+) GAGAA(A/G)GCCCC intron-variant
rs5071 -- 116,837,018(-) TCCGC(C/T)TTGGG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for APOA1 Gene

Variant ID Type Subtype PubMed ID
nsv898402 CNV Gain 21882294

Relevant External Links for APOA1 Gene

HapMap Linkage Disequilibrium report
APOA1
Human Gene Mutation Database (HGMD)
APOA1

Disorders for APOA1 Gene

(2) OMIM Diseases for APOA1 Gene (107680)

UniProtKB/Swiss-Prot

APOA1_HUMAN
  • High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=APOA1 mutations may be involved in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type, also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III (PubMed:3142462 and PubMed:2123470). The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis.
  • Amyloidosis 8 (AMYL8) [MIM:105200]: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. {ECO:0000269 PubMed:1502149, ECO:0000269 PubMed:2123470, ECO:0000269 PubMed:3142462, ECO:0000269 PubMed:8208902}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(95) Novoseek inferred disease relationships for APOA1 Gene

Disease -log(P) Hits PubMed IDs
tangier disease 86.3 25
atherosclerosis 83.1 140
hypoalphalipoproteinemia 81.9 11
coronary heart disease 79.4 60
dyslipidemia 75.6 16

Relevant External Links for APOA1

Genetic Association Database (GAD)
APOA1
Human Genome Epidemiology (HuGE) Navigator
APOA1
genes like me logo Genes that share disorders with APOA1: view

No data available for Genatlas for APOA1 Gene

Publications for APOA1 Gene

  1. Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. (PMID: 1502149) Soutar A.K. … Pepys M.B. (Proc. Natl. Acad. Sci. U.S.A. 1992) 3 4 23
  2. A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy. (PMID: 2123470) Nichols W.C. … Benson M.D. (Genomics 1990) 3 4 23
  3. Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia. (PMID: 8282791) Ng D.S. … Hegele R.A. (J. Clin. Invest. 1994) 3 4 23
  4. Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure. (PMID: 2111322) von Eckardstein A. … Assmann G. (J. Biol. Chem. 1990) 3 4 23
  5. Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene. (PMID: 8240372) Nakata K. … Hamaguchi H. (Biochem. Biophys. Res. Commun. 1993) 3 4 23

Products for APOA1 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate APOA1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for APOA1
    • Block miRNA regulation of APOA1 using miScript Target Protectors

    Sources for APOA1 Gene

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