Aliases for APOA1 Gene
Aliases for APOA1 Gene
External Ids for APOA1 Gene
- HGNC: 600
- Entrez Gene: 335
- Ensembl: ENSG00000118137
- OMIM: 107680
- UniProtKB: P02647
Previous GeneCards Identifiers for APOA1 Gene
- GC11M119059
- GC11M118218
- GC11M116740
- GC11M116244
- GC11M116211
- GC11M116706
- GC11M112638
Summaries 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 and Amyloidosis, Familial Visceral. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Metabolism of fat-soluble vitamins. GO annotations related to this gene include identical protein binding and lipid 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.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOA1 Gene
Genomics for APOA1 Gene
Regulatory Elements for APOA1 Gene
Enhancers for APOA1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around APOA1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the APOA1 gene promoter:
Regulatory Element Products
Genomic Location for APOA1 Gene
- Chromosome:
- 11
- 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
Genes around APOA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.3 by Ensembl
- 11q23.3 by Entrez Gene
- 11q23.3 by HGNC
APOA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for APOA1 Gene
Post-translational modifications for APOA1 Gene
- Glycosylated.
- Palmitoylated.
- Phosphorylation sites are present in the extracellular medium.
- Glycosylation at posLast=221221 and posLast=263263
- Modification sites at PhosphoSitePlus
Other Protein References for APOA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for APOA1
- R&D Systems Antibodies for APOA1 (Apolipoprotein A-I/ApoA1)
- Cell Signaling Technology (CST) Antibodies for APOA1 (APOA1)
- Novus Biologicals Antibodies for APOA1
-
Cloud-Clone Corp. Antibodies for APOA1
- Invitrogen Antibodies for APOA1
- antibodies-online Antibodies for APOA1: See all 495
- GeneTex APOA1 antibody for APOA1
-
Custom Antibody ServicesProSci Antibodies for APOA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for APOA1
Protein Products
- EMD Millipore Purified and/or Recombinant APOA1 Protein
- R&D Systems Proteins and Enzymes for APOA1 (Apolipoprotein A-I/ApoA1)
- Enzo Life Sciences proteins for APOA1
- Search Origene for MassSpec and Protein Over-expression Lysates for APOA1
- Origene Custom Protein Services for APOA1
- Sino Biological Recombinant Proteins for APOA1
- Sino Biological Cell Lysates for APOA1
- ProSpec Recombinant Proteins for APOA1
-
Cloud-Clone Corp. Proteins for APOA1
- antibodies-online Proteins for APOA1: See all 107
- Search antibodies-online for peptides
- GeneTex Proteins for APOA1
Assay Products
- R&D Systems ELISAs, ELISpot and FluoroSpot Kits, Proteome Profiler Antibody Arrays, Luminex Assays, and other biochemical assays for APOA1 (Apolipoprotein A-I/ApoA1)
- antibodies-online Kits for APOA1: See all 77
No data available for DME Specific Peptides for APOA1 Gene
Domains & Families 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- Family:
-
- Belongs to the apolipoprotein A1/A4/E family.
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.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001540 | beta-amyloid binding | IDA,IPI | 9211985 |
| GO:0005319 | lipid transporter activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 11297421 |
| GO:0005543 | phospholipid binding | IDA | 12810715 |
| GO:0005548 | phospholipid transporter activity | IEA | -- |
Phenotypes for APOA1 Gene
- MGI mutant phenotypes for APOA1:
- inferred from 4 alleles
- GenomeRNAi human phenotypes for APOA1:
Animal Models for APOA1 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for APOA1
- Cyagen custom Knockout/knockin (KOKI) mouse models for APOA1
-
-
ViGene Biosciences lentiviral particle packaged cDNA for APOA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APOA1 gene
- Search ViGene Biosciences for APOA1
CRISPR Products
-
OriGene CRISPR knockouts for APOA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOA1
- GenScript: Design CRISPR guide RNA sequences for APOA1
miRNA for APOA1 Gene
- miRTarBase miRNAs that target APOA1
-
- hsa-mir-6869-5p (MIRT449573)
- hsa-mir-558 (MIRT449574)
- hsa-mir-3158-5p (MIRT449575)
- hsa-mir-4740-3p (MIRT449576)
- hsa-mir-135b-5p (MIRT449577)
- hsa-mir-135a-5p (MIRT449578)
- hsa-mir-4747-5p (MIRT483214)
- hsa-mir-5196-5p (MIRT483215)
- hsa-mir-3202 (MIRT483216)
- hsa-mir-3179 (MIRT483217)
- hsa-mir-3663-3p (MIRT499157)
- hsa-mir-181d-3p (MIRT499158)
- hsa-mir-6722-5p (MIRT528208)
- hsa-mir-1305 (MIRT528209)
- hsa-mir-627-3p (MIRT528210)
miRNA Products
- Search ViGene Biosciences for APOA1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for APOA1
- Browse OriGene Inhibitory RNA Products For APOA1
-
ViGene Biosciences ready-to-package AAV shRNAs for APOA1 gene
Clone Products
-
OriGene ORF clones in human for APOA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for APOA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for APOA1
- VectorBuilder custom plasmid, inducible vectors for APOA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for APOA1
-
ViGene Biosciences adenoviral particle packaged cDNA for APOA1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for APOA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APOA1 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10349 VA6-13045) 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 5 |
| cytosol | 5 |
| endosome | 5 |
| nucleus | 3 |
| peroxisome | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| 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 | -- |
Pathways & Interactions for APOA1 Gene
Pathways by source for APOA1 Gene
1 Cell Signaling Technology pathway for APOA1 Gene
7 BioSystems pathways for APOA1 Gene
1 PharmGKB pathway for APOA1 Gene
4 KEGG pathways for APOA1 Gene
1 GeneGo (Thomson Reuters) pathway for APOA1 Gene
Interacting Proteins for APOA1 Gene
Selected Interacting proteins:
P02647-APOA1_HUMAN
ENSP00000236850
for APOA1 Gene via
MINT
STRING
UniProtKB
IID
| 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 |
No data available for SIGNOR curated interactions for APOA1 Gene
Drugs & Compounds for APOA1 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Triglycerides Group B |
|
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7 | ||||
| Triglycerides Group C |
|
Transcripts for APOA1 Gene
mRNA/cDNA for APOA1 Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (670) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for APOA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOA1
- GenScript: Design CRISPR guide RNA sequences for APOA1
miRNA Products
- Search ViGene Biosciences for APOA1
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for APOA1
- Browse OriGene Inhibitory RNA Products For APOA1
-
ViGene Biosciences ready-to-package AAV shRNAs for APOA1 gene
Clone Products
-
OriGene ORF clones in human for APOA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for APOA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for APOA1
- VectorBuilder custom plasmid, inducible vectors for APOA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOA1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10349 VA6-13045) for APOA1
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | |||||||||||||||||
| SP4: | - | ||||||||||||||||
| SP5: | - | - |
Expression for APOA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- NULL (Uncategorized)
- Liver (Hepatobiliary System)
-
Hypoblast (Extraembryonic Tissues)
- Extraembryonic Endoderm Cells Extraembryonic Endoderm
-
Yolk Sac (Extraembryonic Tissues)
- Extraembryonic Endoderm Cells Extraembryonic Endoderm
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
- Intestine (Gastrointestinal Tract)
- Heart (Cardiovascular System)
- Smooth Muscle (Muscoskeletal System)
- Epiblast (Early Embryonic Tissues)
- Epithelial Cells (Uncategorized)
-
Lung (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for APOA1 Gene
This gene is overexpressed in Liver (x49.8).
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, PaxDb, MaxQB, and MOPED for APOA1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of APOA1 Gene:
APOA1SOURCE GeneReport for Unigene cluster for APOA1 Gene:
Hs.93194mRNA 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
- Liver(5)
- Blood(4.7)
- Heart(4.6)
- Muscle(4.5)
- Nervous system(4.4)
- Kidney(3.2)
- Spleen(3.2)
- Intestine(2.7)
- Lung(2.5)
- Gall bladder(2)
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
Organs:
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
Primer Products
-
OriGene qPCR primer pairs and template standards for APOA1
-
OriGene qPCR primer pairs for APOA1
Orthologs for APOA1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APOA1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | APOA1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | APOA1 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Apoa1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Apoa1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | APOA1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | APOA1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | APOA1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apoa1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apoa1b 34 35 |
|
||
| apoa1a 35 |
|
OneToMany |
- Species where no ortholog for APOA1 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for APOA1 Gene
Variants for APOA1 Gene
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].
| SNP ID | Clin | Chr 11 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121912724 | Pathogenic, Amyloidosis 8 (AMYL8) [MIM:105200] | 116,836,361(-) | CAAGC(G/T)GCGCG | intron-variant, reference, missense, utr-variant-5-prime | |
| rs28931574 | Pathogenic, Amyloidosis 8 (AMYL8) [MIM:105200] | 116,837,053(-) | ACAGC(A/C/G)GCAGA | intron-variant, reference, missense, utr-variant-5-prime | |
| rs121912716 | Pathogenic | 116,836,221(-) | AGAAG(A/T)AGTGG | nc-transcript-variant, reference, stop-gained | |
| rs121912717 | Pathogenic | 116,835,948(-) | CCACC(A/G)AGCAT | upstream-variant-2KB, reference, missense | |
| rs121912718 | Pathogenic | 116,836,134(-) | TGCAC(A/C/G)AGCTG | nc-transcript-variant, reference, missense |
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)
Relevant External Links for APOA1 Gene
No data available for Structural Variations from Database of Genomic Variants (DGV) for APOA1 Gene
Disorders for APOA1 Gene
(62) MalaCards diseases for APOA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypoalphalipoproteinemia |
|
|
| amyloidosis, familial visceral |
|
|
| tangier disease |
|
|
| aapoai amyloidosis |
|
|
| apoa1-associated familial high density lipoprotein deficiency |
|
|
Search APOA1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
APOA1_HUMAN- Amyloidosis 8 (AMYL8) [MIM:105200]: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. {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.
- 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.
- 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.
- 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.
Relevant External Links for APOA1
No data available for Genatlas for APOA1 Gene
Publications for APOA1 Gene
- Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. (PMID: 19336475) Drenos F. … Hingorani A.D. (Hum. Mol. Genet. 2009) 3 22 46 64
- The environmental and genetic evidence for the association of hyperlipidemia and hypertension. (PMID: 19155782) Ruixing Y. … Shangling P. (J. Hypertens. 2009) 3 22 46 64
- Apolipoprotein AI and Apolipoprotein B gene polymorphisms and lipid profile in Tamilian population. (PMID: 19191080) Padmaja N. … Adithan C. (Ann. Hum. Biol. 2009) 3 22 46 64
- Apolipoprotein A1 gene polymorphisms as risk factors for hypertension and obesity. (PMID: 19408098) Chen E.S. … de Arruda Cardoso Smith M. (Clin. Exp. Med. 2009) 3 22 46 64
- Association of polymorphisms in apolipoprotein A1 and apolipoprotein B genes with lipid profile in Tamilian population. (PMID: 19729689) Padmaja N. … Adithan C. (Indian Heart J 2009) 3 22 46 64
Products for APOA1 Gene
- Browse Small Molecules at EMD Millipore
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for APOA1
- EMD Millipore Purified and/or Recombinant APOA1 Protein
- Browse Kits and Assays available from EMD Millipore
- EMD Millipore genomic analysis products
- R&D Systems Antibodies for APOA1 (Apolipoprotein A-I/ApoA1)
- R&D Systems Proteins and Enzymes for APOA1 (Apolipoprotein A-I/ApoA1)
- R&D Systems ELISAs, ELISpot and FluoroSpot Kits, Luminex Assays, Proteome Profiler Antibody Arrays, and other biochemical assays for APOA1 (Apolipoprotein A-I/ApoA1)
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for APOA1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for APOA1
- Origene Custom Protein Services for APOA1
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for APOA1
- Browse OriGene Inhibitory RNA Products For APOA1
- OriGene qPCR primer pairs and template standards for APOA1
- OriGene qPCR primer pairs for APOA1
- OriGene CRISPR knockouts for APOA1
- OriGene ORF clones in human for APOA1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For APOA1
- GenScript: Next-day shipping cDNA ORF clone for APOA1 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for APOA1
- GenScript Custom Assay Services for APOA1
- GenScript Custom overexpressing Cell Line Services for APOA1
- GenScript: Design CRISPR guide RNA sequences for APOA1
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for APOA1
- Cell Signaling Technology (CST) Antibodies for APOA1 (APOA1)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for APOA1
- Sino Biological Recombinant Proteins for APOA1
- Sino Biological Cell Lysates for APOA1
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for APOA1
- Novus Biologicals proteins and lysates for APOA1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ProSpec Recombinant Proteins for APOA1
- Cloud-Clone Corp. Antibodies for APOA1
- Cloud-Clone Corp. Proteins for APOA1
- Taconic Biosciences Mouse Models for APOA1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Addgene plasmids for APOA1
- antibodies-online Antibodies for APOA1: See all 495
- antibodies-online Kits for APOA1: See all 77
- antibodies-online Proteins for APOA1: See all 107
- Search antibodies-online for peptides
- GeneTex APOA1 antibody for APOA1
- GeneTex Proteins for APOA1
- ViGene Biosciences adenoviral particle packaged cDNA for APOA1 gene
- ViGene Biosciences lentiviral particle packaged cDNA for APOA1 gene
- ViGene Biosciences ready-to-package AAV shRNAs for APOA1 gene
- Search ViGene Biosciences for APOA1
- Santa Cruz Biotechnology (SCBT) Antibodies for APOA1
- Search Santa Cruz Biotechnology (SCBT) for APOA1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for APOA1
- Custom Antibody ServicesProSci Antibodies for APOA1
- Horizon Cell Lines for APOA1
- Cyagen custom Knockout/knockin (KOKI) mouse models for APOA1
- VectorBuilder custom plasmid, inducible vectors for APOA1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOA1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for APOA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer