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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

APOA1 Gene

protein-coding GIFtS: 67
GCID: GC11M116706

apolipoprotein A-I

Explore 200 diseases affiliated with
APOA1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Apolipoprotein A-I¹ ²
Apo-AI³
ApoA-I³
Apo-AI³
ApoA-I³
Apolipoprotein A1³

External Ids:	HGNC: 600¹	Entrez Gene: 335²	Ensembl: ENSG00000118137⁷	OMIM: 107680⁵	UniProtKB: P02647³

Export aliases for APOA1 gene to outside databases

Previous GC identifers: GC11M119059 GC11M118218 GC11M116740 GC11M116244 GC11M116211 GC11M112638

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for APOA1:

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)

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647

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 Wiki entry for APOA1 (Apolipoprotein A1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_033899.8

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APOA1 gene promoter:
COUP-TF1 COUP HNF-4alpha2 C/EBPalpha HNF-4alpha1 PPAR-gamma1 COUP-TF PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): APOA1 promoter sequence

Search SABiosciences Chromatin IP Primers for APOA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APOA1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23-q24 Ensembl cytogenetic band: 11q23.3 HGNC cytogenetic band: 11q23-q24

APOA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOA1 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M116706: view genomic region (about GC identifiers)

Start:	116,706,467 bp from pter	End:	116,708,666 bp from pter
Size:	2,200 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647 (See protein sequence)

Recommended Name: Apolipoprotein A-I precursor

Size: 267 amino acids; 30778 Da

Subunit: 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

Subcellular location: Secreted

Mass spectrometry: Mass=28081; Method=Electrospray; Range=25-267; Note=Without methionine sulfoxide;

Source=PubMed:12576517;

Mass spectrometry: Mass=28098; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at

Met-110; Source=PubMed:12576517;

Mass spectrometry: Mass=28095; Method=Electrospray; Range=25-267; Note=With 1 methionine sulfoxide, oxidation at

Met-136; Source=PubMed:12576517;

Mass spectrometry: Mass=28114; Method=Electrospray; Range=25-267; Note=With 2 methionine sulfoxides, oxidation at

Met-110 and Met-136; Source=PubMed:12576517;

6/10 PDB 3D structures from and Proteopedia for APOA1 (see all 10):

1AV1 (3D)

1GW3 (3D)

1GW4 (3D)

1ODP (3D)

1ODQ (3D)

1ODR (3D)

Secondary accessions: A8K866 Q6LDN9 Q6Q785 Q9UCS8 Q9UCT8

Explore the universe of human proteins at neXtProt for APOA1: NX_P02647

Post-translational modifications:

Palmitoylated¹

Met-110 and Met-136 are oxidized to methionine sulfoxides¹

Phosphorylation sites are present in the extracellular medium¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P02647

APOA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000030.1

ENSEMBL proteins:

ENSP00000364469 ENSP00000352471 ENSP00000364478 ENSP00000364472 ENSP00000236850

Reactome Protein details: P02647
Human Recombinant Protein Products:

	EMD Millipore Purified and/or Recombinant APOA1 Protein
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	Novus Biologicals APOA1 Proteins Novus Biologicals APOA1 Lysates
	Sino Biological Recombinant Protein for APOA1
	ProSpec Recombinant Protein for APOA1
	Uscn Proteins for APOA1

Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	ISS	--
GO:0005634	nucleus	IEA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005886	plasma membrane	TAS	--

APOA1 for ontologies About GeneDecksing

APOA1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of APOA1
	R&D Systems Antibodies for APOA1 (Apolipoprotein A-I/ApoA1)
	Cell Signaling Technology (CST) Antibodies for APOA1
	OriGene Antibodies (see all 2): APOA1 OriGene Custom Antibody Services for APOA1
	GenScript Superior Antibodies for APOA1
	Novus Biologicals APOA1 Antibodies
	Abcam antibodies for APOA1
	Uscn Antibodies for APOA1
	ThermoFisher Antibodies for APOA1

Assay Products for APOA1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	R&D Systems ELISpot Kits & Development Modules for APOA1 (Apolipoprotein A-I/ApoA1)
	GenScript Custom Assay Services for APOA1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for APOA1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

APOA1 for domains About GeneDecksing

2 InterPro domains/families:

IPR000074 ApoA1_A4_E

IPR013326 ApoA

Graphical View of Domain Structure for InterPro Entry P02647

ProtoNet protein and cluster: P02647

1 Blocks protein family: IPB000074 Apolipoprotein A1/A4/E

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647

Similarity: Belongs to the apolipoprotein A1/A4/E family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647

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 entry for APOA1:

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

liver

miRNA Products:		OriGene 3'-UTR Clone: APOA1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APOA1
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for APOA1 (see all 7) OriGene shRNA RFP: APOA1 OriGene siRNA: APOA1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APOA1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for APOA1

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		GenScript: all cDNA clones in your preferred vector: APOA1 (NM_000039)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for APOA1
		Search LifeMap BioReagents cell lines for APOA1

In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for APOA1

Gene Ontology (GO): 5/17 molecular function terms (GO ID links to tree view) (see all 17): About this table

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	17786215
GO:0005543	phospholipid binding	IDA	12810715
GO:0005548	phospholipid transporter activity	IEA	--

APOA1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for APOA1: Apoa1/Apoc3/Apoa4^{Apoa1/Apoc3/tm1Hmez} Apoa1^tm1Bres Apoa1^tm1Unc
     8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Apoa1):

cardiovascular system	cellular	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism
immune system	integument	liver/biliary system

APOA1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/24 super-pathways (see all 24) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lipoprotein metabolism

	Lipoprotein metabolism	1.00			Chylomicron-mediated lipid transport	0.57
	HDL-mediated lipid transport	0.57			Lipid digestion, mobilization, and transport	0.56

Retinoid metabolism and transport

	Retinoid metabolism and transport	1.00			Diseases associated with visual transduction	0.73
	Visual phototransduction	0.74

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	1.00			Fatty acid, triacylglycerol, and ketone body metabolism	0.52
	PPARA Activates Gene Expression	0.74

Amyloid precursor proteins form ordered fibrils

Amyloid precursor proteins form ordered fibrils

1.00

Amyloids

0.43

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for APOA1

Selected targets of HNF1

1 Cell Signaling Technology (CST) Pathway for APOA1

Ca, cAMP and Lipid Signaling

1 GeneGo (Thomson Reuters) Pathway for APOA1

Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

4 BioSystems Pathways for APOA1

	Statin Pathway
	Selenium Pathway
	Folate Metabolism
	FOXA2 and FOXA3 transcription factor networks

5/27 Reactome Pathways for APOA1 (see all 27)

	Diseases associated with visual transduction
	Endocytosis and degradation of apoA-I
	Metabolism
	Chylomicron-mediated lipid transport
	Expression of APOA1

1 PharmGKB Pathway for APOA1

Statin Pathway, Pharmacodynamics

4 Kegg Pathways (Kegg details for APOA1):

	PPAR signaling pathway
	Fat digestion and absorption
	Vitamin digestion and absorption
	African trypanosomiasis

APOA1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for APOA1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/131 Interacting proteins for APOA1 (P02647^{1, 2, 3} ENSP00000236850⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 131)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HP	P00738²^,³, ENSP00000348170⁴	MINT-7258829 MINT-7258811 MINT-7258868 I2D: score=2 STRING: ENSP00000348170
APP	P05067¹^,³, ENSP00000284981⁴	EBI-701692,EBI-77613 I2D: score=1 STRING: ENSP00000284981
TNFRSF10C	O14798²^,³	MINT-63077 I2D: score=5
TOMM20	Q15388²^,³	MINT-64236 I2D: score=5
MAPK6	Q16659²^,³	MINT-8260691 I2D: score=2

About this table

Gene Ontology (GO): 5/56 biological process terms (GO ID links to tree view) (see all 56): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
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
GO:0006629	lipid metabolic process	TAS	--

APOA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

APOA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for APOA1

1 HMDB Compound for APOA1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cholesterol	(+)-ent-Cholesterol (see all 39)	57-88-5	--

10/121 Novoseek chemical compound relationships for APOA1 gene (see all 121) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cholesterol	94.6	4787	8969186 (8), 8375418 (7), 10355509 (7), 10587456 (6) (see all 99)
lipid	88.8	968	10194351 (9), 18831538 (7), 10828078 (7), 18776170 (6) (see all 99)
phospholipid	77.1	294	8969186 (6), 8431489 (5), 18252847 (4), 18778096 (4) (see all 99)
cholesterol ester	75.1	39	8473509 (2), 9565601 (2), 8376576 (2), 8375458 (1) (see all 28)
torcetrapib	72.2	8	15761191 (2), 19103817 (1), 18480348 (1), 19080729 (1) (see all 5)
phosphatidylcholine	70.9	164	11320081 (4), 9162746 (4), 8509716 (3), 9610765 (3) (see all 85)
fibrinogen	69.4	159	9869165 (6), 10546412 (3), 14706967 (3), 9987089 (3) (see all 99)
p-opc	68.9	42	8509716 (4), 15379564 (4), 9831630 (3), 9048564 (2) (see all 20)
gemfibrozil	66.5	40	8900208 (6), 9514936 (4), 8696946 (4), 9507986 (3) (see all 20)
simvastatin	65.8	67	11464446 (5), 18540024 (4), 14640465 (4), 18270459 (2) (see all 28)

Search CenterWatch for drugs/clinical trials and news about APOA1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for APOA1 gene:

NM_000039.1

Unigene Cluster for APOA1:

Apolipoprotein A-I

Hs.93194 [show with all ESTs]

Unigene Representative Sequence: BM559512

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000375320 ENST00000359492 ENST00000375329 ENST00000375323 ENST00000236850(uc001ppv.1)

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		GenScript: all cDNA clones in your preferred vector: APOA1 (NM_000039)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APOA1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOA1

Additional cDNA sequence:

AK292231.1 BC005380.1 BC110286.1 M11791.1 M27875.1 M29068.1 X00566.1 X02162.1

24/26 DOTS entries (see all 26):

DT.451322 DT.100845340 DT.100845344 DT.100845342 DT.95370881 DT.95370744 DT.120733334 DT.92457181

DT.100845347 DT.92457177 DT.92457184 DT.100845337 DT.100845345 DT.87001623 DT.95370884 DT.100845335

DT.87013866 DT.100845346 DT.102823597 DT.120733201 DT.91992532 DT.92457180 DT.95370886 DT.100893460

24/670 AceView cDNA sequences (see all 670):

T69149 BM559512 BQ648674 CB148231 NM_000039 CR606088 BQ652421 BQ648195

BU753500 CR594974 M27875 AV656413 CR603689 H53127 BU839676 AV645969

BQ646935 T60963 BF513452 BI825576 CR604796 T58951 CR614893 CB163896

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for APOA1 About this scheme

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

ECgene alternative splicing isoforms for APOA1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

APOA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGGACGCGCT

About this image

APOA1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Hypoblast

Extraembryonic Endoderm

Extraembryonic Endoderm Cells

Extraembryonic Tissues, Yolk Sac

Extraembryonic Mesoderm

Extraembryonic Capillary Plexus

Extraembryonic Angioblasts

Endothelium

Heart

Atrioventricular Canal

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

See APOA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for APOA1

SOURCE GeneReport for Unigene cluster: Hs.93194

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647

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

SABiosciences Expression via Pathway-Focused PCR Arrays including APOA1:

Atherosclerosis in human mouse rat

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Alzheimer's Disease in human mouse rat

Fatty Liver in human mouse rat

PPAR Targets in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOA1

In Situ
Assay Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for APOA1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for APOA1 gene from 2/8 species (see all 8) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	APOA1¹	apolipoprotein A-I	62.86(n) 50.19(a)		396536 NM_205525.4 NP_990856.1
zebrafish (Danio rerio)	Actinopterygii	apoa1a¹	apolipoprotein A-Ia	46.54(n) 26.15(a)		30355 NM_131128.1 NP_571203.1

ENSEMBL Gene Tree for APOA1 (if available)
TreeFam Gene Tree for APOA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for APOA1 gene

APOE² APOA4² APOA5²

APOA1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121912720^1,2	C,F,	pathogenic	120733920(-)	`TGAACA/C/GCCCCC`	3	H P R	mis¹		1		NA	4476
rs28929476^1,2	C	pathogenic	120733941(-)	`GGATCG/TAGTGA`	2	R L	mis¹ ese³		0	--	--	--	--
rs28931574^1,2	C	pathogenic	120733988(-)	`ACAGCC/GGCAGA`	2	R G	mis¹ ese³		0	--	--	--	--
rs28931575^1,2	C	pathogenic	120734770(-)	`GGATCC/TGGAGG`	2	P L	mis¹ ese³		0	--	--	--	--
rs121912717^1,2	C	pathogenic	120735093(-)	`CCACCG/AAGCAT`	2	/K /E	mis¹		1		NA	3758
rs12721025^1,2	C,	--	112638306(+)	`GCTCCG/ATCCCG`	1	--	ds500¹		3		NS	240
rs12721026^1,2	C,	--	112638427(+)	`AGGGCT/GGCAGG`	1	--	ds500¹		3		NS	240
rs12718463^1,2	C,F,	--	112638602(+)	`AGACGT/CCCTGT`	1	--	ds500¹		7		NS WA CSA	389
rs5079^1,2	F	--	112638969(-)	`CTCAAG/AGAGAA`	2	/K	syn¹ ese³		2		MN	252
rs5078^1,2	C,F	--	112639036(-)	`GCTGCG/CCACGC`	2	/P /R	mis¹ ese³		1		MN	68

HapMap Linkage Disequilibrium report for APOA1 (116706467 - 116708666 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for APOA1: --
Human Gene Mutation Database (HGMD): APOA1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing APOA1

DNA2.0 Custom Variant and Variant Library Synthesis for APOA1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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APOA1 for disorders           About GeneDecksing

OMIM gene information: 107680
OMIM disorders: 604091  105200
UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647

Defects in APOA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2) [MIM:604091]; also known as

familial hypoalphalipoproteinemia (FHA). Inheritance is autosomal dominant

Defects in APOA1 are a cause of the low HDL levels observed in high density lipoprotein deficiency type 1

(HDLD1) [MIM:205400]; also known as analphalipoproteinemia or Tangier disease (TGD). HDLD1 is a recessive disorder

characterized by the absence of plasma HDL, accumulation of cholesteryl esters, premature coronary artery disease,

hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. In HDLD1 patients,

ApoA-I fails to associate with HDL probably because of the faulty conversion of pro-ApoA-I molecules into mature

chains, either due to a defect in the converting enzyme activity or a specific structural defect in Tangier ApoA-I

Note=A mutation in APOA1 is the cause of amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA); also known

as amyloidosis van Allen type or familial amyloid polyneuropathy type III. AMYLIOWA is a hereditary generalized

amyloidosis due to deposition of amyloid mainly constituted by apolipoprotein A1. 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. Severe peptic ulcer disease can occurr in some and hearing loss is frequent. Cataracts is present in

several, but vitreous opacities are not observed

Defects in APOA1 are a cause of amyloidosis type 8 (AMYL8) [MIM:105200]; also known as systemic

non-neuropathic amyloidosis or Ostertag-type amyloidosis. AMYL8 is 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

20/200 diseases for APOA1 (see all 200): About MalaCards

apoa-i and apoc-iii deficiency apoa-i and apoc-iii deficiency, combined amyloidosis tangier disease

hdl deficiency corneal clouding, autosomal recessive acid-labile subunit fish-eye disease

apo a-i deficiency amyloidosis, 3 or more types corneal clouding hyperlipoproteinemia type iii

reflex sympathetic dystrophy avascular necrosis of femoral head lipoprotein lipase deficiency thrombotic thrombocytopenic purpura

retinol binding protein cerebrotendinous xanthomatosis hyperlipoproteinemia cetp deficiency

11 diseases from the University of Copenhagen DISEASES database for APOA1:

Atherosclerosis Coronary heart disease Tangier disease Diabetes mellitus

Familial hyperlipidemia Amyloidosis Myocardial infarction Hypertension

Norum disease Kidney disease Cerebrovascular accident

10/95 Novoseek disease relationships for APOA1 gene (see all 95) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tangier disease	86.3	32	7615839 (3), 9931341 (2), 8347683 (1), 14767869 (1) (see all 22)
atherosclerosis	83.1	268	12208466 (7), 18497309 (4), 8040345 (4), 20395699 (3) (see all 99)
hypoalphalipoproteinemia	81.9	15	11292828 (3), 7712672 (1), 12270762 (1), 9253538 (1) (see all 9)
coronary heart disease	79.4	89	7583566 (2), 10840998 (2), 2041289 (1), 8934336 (1) (see all 58)
dyslipidemia	75.6	18	15751988 (2), 10377488 (1), 15504988 (1), 9472456 (1) (see all 15)
hypertriglyceridemia	74.7	44	15301543 (4), 17919884 (3), 1900192 (2), 8148350 (2) (see all 25)
coronary artery disease	74.3	102	2116785 (4), 1531990 (3), 8098786 (3), 1585854 (2) (see all 70)
cardiovascular diseases	73	68	15314690 (2), 16901406 (2), 15498770 (2), 17234819 (2) (see all 52)
amyloidosis hereditary	72.3	8	11849445 (1), 1443041 (1), 7868080 (1), 8675681 (1) (see all 6)
cetp deficiency	72.1	6	10532685 (1), 19023137 (1), 2215607 (1), 14657195 (1) (see all 5)

Genetic Association Database (GAD): APOA1
Human Genome Epidemiology (HuGE) Navigator: APOA1 (189 documents)

Export disorders for APOA1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for APOA1 gene, integrated from 9 sources (see all 2572):
(articles sorted by number of sources associating them with APOA1)

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Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure. (PubMed id 2111322)^{1, 2, 9} von Eckardstein A....Assmann G. (1990)
A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency. (PubMed id 9514407)^{1, 2, 9} Huang W.... Arakawa K. (1998)
Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. (PubMed id 1502149)^{1, 2, 9} Soutar A.K.... Pepys M.B. (1992)
Relationship between plasma HDL subclasses distribution and apoA-I gene polymorphisms. (PubMed id 15925353)^{1, 4, 9} Jia L....Long S. (2005)
Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus. (PubMed id 15910632)^{1, 4, 9} Morcillo S....Soriguer F. (2005)
Characterization of specifically oxidized apolipoproteins in mildly oxidized high density lipoprotein. (PubMed id 12576517)^{1, 2, 9} Pankhurst G....Stocker R. (2003)
Relationship between gene polymorphisms and prevalence of myocardial infarction among diabetic and non-diabetic subjects. (PubMed id 15585206)^{1, 4, 9} Relvas W.G....Fonseca F.A. (2005)
The study of APOA1, APOC3 and APOA4 variability in healthy ageing people reveals another paradox in the oldest old subjects. (PubMed id 12556235)^{1, 4, 9} Garasto S....De Benedictis G. (2003)
Polymorphisms in APOA1 and LPL genes are statistically independently associated with fasting TG in men with CAD. (PubMed id 15657615)^{1, 4, 9} Souverein O.W....Tanck M.W. (2005)
APOA1 polymorphisms are associated with variations in serum triglyceride concentrations in hypercholesterolemic individuals. (PubMed id 16309370)^{1, 4, 9} Sorkin S.C....Hirata R.D. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 335	HGNC: 600	AceView: APOA1	Ensembl:ENSG00000118137	euGenes: HUgn335
ECgene: APOA1	Kegg: 335	H-InvDB: APOA1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for APOA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOA1
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1

Intellectual Property for APOA1 gene
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Patent Information for APOA1 gene:
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GeneCards and IP:
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APOA1 Gene

apolipoprotein A-I

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Fatty Liver
Microalbuminuria
CORNEAL ARCUS
Amyloidosis Familial
AMYLOIDOSIS SECONDARY
Hyperinsulinemia
essential hypertension
Peripheral Vascular Diseases
HYPERALPHALIPOPROTEINEMIA
Acute myocardial infarction
Amyloid Neuropathies
Hyperlipidemia
Hypertriglyceridemias Familial
LECITHIN CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
insulin sensitivity
stage ovarian cancer
Myocardial Ischemia
Atherosclerosis
Liver diseases
ENDOGENOUS HYPERTRIGLYCERIDEMIA
Hypercholesterolemia
Nephrotic Syndrome
Hypofibrinogenemia
Coronary Stenosis
Amyloidosis
CETP DEFICIENCY
Diabetes Mellitus Insulin-Dependent
Coronary Atherosclerosis
Hyperlipidemia Familial Combined
Lipid Disorders
Dyslipidemia
RENAL DISEASE
AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
Epilepsy Temporal Lobe
Multiple Sclerosis
Inflammation
Xanthoma
Diabetic Nephropathies
Proteinuria
Hyperlipoproteinemia Type III
Hepatitis B
LCAT deficiency
Hepatitis Alcoholic
Rheumatoid Arthritis
Cardiovascular Diseases
metabolic disorder
Tangier Disease
FISH-EYE DISEASE
Hepatoblastoma
SMOKING HABIT
Carotid Atherosclerosis
Coronary Heart Disease
Hypoalphalipoproteinemia
HYPERTENSION ARTERIAL
Cholesterolosis
Cerebral Atherosclerosis
Abetalipoproteinemia
Familial Amyloid Polyneuropathies
Liver Fibrosis
atherosclerotic plaque
Infarction Lacunar
PLANAR XANTHOMA
RENAL AMYLOIDOSIS
Trypanosomiasis African
Diabetes Mellitus
Hyperlipoproteinemia
neurodegeneration
Combined hyperlipidemia
VENOUS OCCLUSION
Arteriosclerosis
Myocardial Infarction
Albuminuria
dyslipoproteinemia
Coronary Artery Disease
Alagille Syndrome
Hypobetalipoproteinemia
Heart Diseases
Response Acute Phase
Insulin Resistance
HIV Infections
impaired glucose tolerance
Hypertriglyceridemia
Coronary atheroma
OBESITY
Amyloidosis Hereditary
Amyloidosis Systemic
Polycystic Ovary Syndrome
Mixed hyperlipidemia
HYPOCHOLESTEROLEMIA
Vascular Diseases
CEREBROVASCULAR DISEASE
NIDDM
Hypercholesterolemia Familial
Renal Failure Chronic
Thromboembolism

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APOA1 Gene

apolipoprotein A-I

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