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APOA1 Gene

protein-coding GIFtS: 70

GC11M112638

apolipoprotein A-I
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

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

Aliases & Descriptions
apolipoprotein A-I¹ ²		apoA-I²
OTTHUMP00000069347²		ApoA-I³
MGC117399²		Apo-AI³
apo-AI²		Apolipoprotein A1³

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

Export aliases for APOA1 gene to outside databases

Previous GC identifers: GC11M119059 GC11M118218 GC11M116740 GC11M116244 GC11M116211 GC11M116706

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
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)

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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the APOA1 gene promoter:
         NF-kappaB1   HNF-4alpha2   NF-kappaB   C/EBPalpha   COUP-TF1   Sp1   PPAR-gamma1   PPAR-gamma2   GATA-6   HSF1 (long)
         Other transcription factors

Search SABiosciences Chromatin IP Primers for APOA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M112638: view genomic region (about GC identifiers)

Start:	112,638,728 bp from pter
End:	112,640,597 bp from pter
Size:	1,870 bases
Orientation:	minus strand

1 alternative location:

Chr11- 116,706,467-116,708,666

RefSeq DNA sequence:

NC_000011.9 NT_033899.8

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
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

Subcellular location: Secreted

PDB structures from and Proteopedia :

1AV1 (3D)

1GW3 (3D)

1GW4 (3D)

1ODP (3D)

1ODQ (3D)

1ODR (3D)

2A01 (3D)

3K2S (3D)

Secondary accessions: A8K866 Q6LDN9 Q6Q785 Q9UCS8 Q9UCT8

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

Post-translational modifications:

Palmitoylated¹

Phosphorylation sites are present in the extracelllular medium¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000030.1

ENSEMBL proteins:

ENSP00000352471 ENSP00000364478 ENSP00000236850 ENSP00000364472 ENSP00000364469

Human Recombinant Proteins

	Millipore Purified and/or Recombinant APOA1 Protein
	Sigma-Aldrich Proteins for APOA1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: APOA1 OriGene Protein Over-expression Lysate: APOA1
	GenScript Custom Purified and Recombinant Proteins Services for APOA1
	Novus Biologicals Proteins for APOA1
	Novus Biologicals Lysates for APOA1
	Sino Biological Recombinant Protein for APOA1
	ProSpec Recombinant Protein for APOA1

5/10 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 10):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IDA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005886	plasma membrane	TAS	--
GO:0030139	endocytic vesicle	IDA	14747463

About this table

APOA1 for ontologies About GeneDecksing

Antibodies for APOA1:

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

Assays for APOA1:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	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:

IPR013326 ApoA/E_ApoLp

IPR000074 ApoA1_A4_E

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 UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

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

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for APOA1 Sigma-Aldrich shRNA for APOA1
		OriGene 29mer shRNA kits in GFP-retroviral vector: APOA1 OriGene shRNA RFP: APOA1 OriGene basic RS shRNA: APOA1 OriGene siRNA: APOA1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of APOA1

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of APOA1
		Search SABiosciences for Assays for microRNAs that regulate APOA1

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: APOA1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: APOA1 OriGene untagged cDNA clones in CMV expression vector: APOA1 OriGene 3'-UTR clone: APOA1 Browse MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: APOA1
		Sino Biological Human cDNA Clone for APOA1

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for APOA1

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

5/15 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 15):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001540	beta-amyloid binding	IDA	11297421
GO:0005319	lipid transporter activity	IEA	--
GO:0005515	protein binding	IPI	11991719
GO:0005543	phospholipid binding	IDA	12810715
GO:0008034	lipoprotein binding	--	--

About this table

APOA1 for ontologies About GeneDecksing

Animal Models: 8 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Apoa1):

cardiovascular system	cellular	endocrine/exocrine gland	hematopoietic system	homeostasis/metabolism
immune system	liver/biliary system	skin/coat/nails

APOA1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

APOA1 for pathways About GeneDecksing

1 Millipore Pathway for APOA1

Selected targets of HNF1

4 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for APOA1

	LXR/RXR Activation
	FXR/RXR Activation
	Acute Phase Response Signaling
	PPARα/RXRα Activation

1 Kegg Pathway (Kegg details for APOA1):

hsa03320 PPAR signaling pathway

SABiosciences Pathway-Focused PCR Arrays including APOA1 (see all 3): PAHS-038A PAHS-057A

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for APOA1

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

5/48 Interacting proteins for APOA1 (ENSP00000364469³ P02647^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 48)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APP	P05067¹	EBI-701692,EBI-77613
HP	P00738²	MINT-7258829 MINT-7258811 MINT-7258868
TNFRSF10C	O14798²	MINT-63077
TOMM20	Q15388²	MINT-64236
SLC12A4	ENSP00000318557³	STRING: ENSP00000318557

About this table

5/40 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 40):

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	--

About this table

APOA1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

APOA1 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for APOA1
10/121 Novoseek chemical compound relationships for APOA1 gene (see all 121)

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)

About this table

1 PharmGKB drug compound relationship for APOA1 gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
testosterone	PD	12270762

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for APOA1 Sigma-Aldrich shRNA for APOA1
		OriGene 29mer shRNA kits in GFP-retroviral vector: APOA1 OriGene shRNA RFP: APOA1 OriGene basic RS shRNA: APOA1 OriGene siRNA: APOA1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of APOA1

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of APOA1
		Search SABiosciences for Assays for microRNAs that regulate APOA1

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: APOA1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: APOA1 OriGene untagged cDNA clones in CMV expression vector: APOA1 OriGene 3'-UTR Clone: APOA1 Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: APOA1

Primers:		OriGene genome-wide validated SYBR primer pairs: APOA1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for APOA1: PPH02633A

REFSEQ mRNAs for APOA1 gene:

NM_000039.1

Additional cDNA sequence:

AK292231.1 BC005380.1 BC110286.1 CR594974.1 CR602459.1 CR603689.1 CR604796.1 CR606088.1

CR611719.1 CR614893.1 CR616175.1 CR622099.1 CR623518.1 CR625742.1 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.100845345 DT.100845337 DT.87013866 DT.100845346 DT.102823597

DT.120733201 DT.91992532 DT.92457180 DT.95370886 DT.100845335 DT.100893460 DT.87001623 DT.95370883

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

CB137714 AV645969 AV653927 T71791 AV646135 T67431 AV646061 BM928005

T60963 AV656457 T28545 CB116644 AA341846 BI833184 BG617717 AV651945

M27875 BQ652768 CR614893 BM928561 BU839531 N75364 N74286 BV179732

highest scoring ESTs for APOA1:

X02162 BC005380 BG533259 BG562890 BG563370 BG566832 BG568057 BG616714 BG617717 BG618385

Unigene Cluster for APOA1:

Apolipoprotein A-I

Hs.93194 [show with all ESTs]

Unigene Representative Sequence: BM559512

GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for APOA1
5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000359492 ENST00000375329 ENST00000236850(uc001ppv.1) ENST00000375323(uc001ppu.1)

ENST00000375320

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

APOA1 expression in normal and diseased human tissues

¹ / ² / ³

5 probe-sets matching APOA1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
39106_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	X02162	1.00	1.00	1.00	1
204450_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000039	0.60	1.00	0.82	1
217073_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	X02162	1.00	1.00	1.00	1
204450_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
217073_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

APOA1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

APOA1 gene electronic northern expression

About these images

CGAP SAGE TAG: TGGACGCGCT

SOURCE GeneReport for Unigene cluster: Hs.93194

Expression variation in blood from EXPOLDB for APOA1

UniProtKB/Swiss-Prot: APOA1_HUMAN, P02647

Tissue specificity: Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small

intestine

Primers:		OriGene genome-wide validated SYBR primer pairs: APOA1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for APOA1: PPH02633A

SABiosciences Expression via Pathway-Focused PCR Arrays including APOA1 (see all 3): PAHS-038A PAHS-057A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for APOA1 gene from 5/6 species (see all 6)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	APOA1¹	--	apolipoprotein A-I	87.84(n) 85.34(a)	479427 XM_536564.2 XP_536564.2
chimpanzee (Pan troglodytes)	APOA1¹	--	apolipoprotein A-I	99.75(n) 100(a)	451564 XM_001153269.1 XP_001153269.1
cow (Bos taurus)	APOA1¹	--	apolipoprotein A-I	84.91(n) 79.25(a)	281631 NM_174242.3 NP_776667.2
mouse (Mus musculus)	Apoa1^{1 , 5}	9 (25.36 cM)⁵	apolipoprotein A-I^{1, 5}	76.52(n)¹ 65.91(a)¹	11806¹ NM_009692.2¹ NP_033822.1¹ AK076187⁵ AK131864⁵ (see all 17)
chicken (Gallus gallus)	APOA1¹	--	apolipoprotein A-I	64.13(n) 51.46(a)	425629 XM_423364.2 XP_423364.2

About this table Species with no ortholog for APOA1

ENSEMBL Gene Tree for APOA1 (if available)

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

Paralogs for APOA1 gene

APOA4² APOA5²

APOA1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 11 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs670^1,2	C,F,H	116708413(-)	`GGGCCG/AGGGCT`	1	--	ng5¹		5	NS EA	332
rs5072^1,2	C,F,H,	116707583(-)	`GAAACC/TGGAAT`	1	--	int¹		11	MN NS EA NA WA	380
rs5073^1,2	C,F	116707513(-)	`GATGCG/ATGATC`	1	--	int¹		4	MN NS WA	274
rs5074^1,2	F	116707337(-)	`GCACCA/CGTCCC`	1	--	int¹		1	MN	68
rs5075^1,2	F	116707191(-)	`CCAGGG/CCTCAC`	1	--	int¹		1	MN	80
rs5076^1,2	C,F	116707190(-)	`CAGGGC/TTCACC`	1	--	int¹		6	MN NS EA	496
rs5081^1,2	C,F	116706346(+)	`CGTCCA/TGTCTG`	1	--	ng3¹		6	MN NS	502
rs632153^1,2	C,F,A	116710239(+)	`caaagG/Tatttt`	1	--	ng5¹		4	NS EA WA	302
rs1374117^1,2	C,A,H	116709438(-)	`TGCTGG/AGGGAG`	1	--	ng5¹		2	NS NA	42
rs2070665^1,2	C,F,H	116707684(-)	`AGGGGC/TAGGGG`	1	--	int¹		12	NS EA NA WA	398

About this table

HapMap Linkage Disequilibrium images for APOA1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for APOA1: --

QIAGEN SeqTarget long-range PCR primers for resequencing APOA1

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

APOA1 for disorders About GeneDecksing

OMIM: 107680

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

Defects in APOA1 are the cause of amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA) [MIM:107680]; 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

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

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)

About this table

Human Gene Mutation Database (HGMD): APOA1
Genetic Association Database (GAD): APOA1
Human Genome Epidemiology (HuGE) Navigator: APOA1 (177 documents)

Export disorders and mutations for APOA1 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/2464 PubMed articles for APOA1 gene, integrated from 7 sources (see all 2464):
(articles sorted by number of sources associating them with APOA1)

Gene-drug interaction: additive influence of mutant APOA1 and testosterone on plasma HDL-cholesterol. (PubMed id 12270762)^{1, 5, 7} Keyhan G....Hegele R.A. (2002)
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, 7} 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, 7} Huang W.... Arakawa K. (1998)
Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. (PubMed id 1502149)^{1, 2, 7} Soutar A.K.... Pepys M.B. (1992)
Relationship between plasma HDL subclasses distribution and apoA-I gene polymorphisms. (PubMed id 15925353)^{1, 4, 7} Jia L....Long S. (2005)
Association between MspI polymorphism of the APO AI gene and Type 2 diabetes mellitus. (PubMed id 15910632)^{1, 4, 7} Morcillo S....Soriguer F. (2005)
Relationship between gene polymorphisms and prevalence of myocardial infarction among diabetic and non-diabetic subjects. (PubMed id 15585206)^{1, 4, 7} 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, 7} 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, 7} 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, 7} Sorkin S.C....Hirata R.D. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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(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)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
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

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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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protein-coding GIFtS: 70

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