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ABCA1 Gene

protein-coding GIFtS: 66

GC09M106583

ATP-binding cassette, sub-family A (ABC1), member 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: ABC1, HDLDT1)

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

Aliases
ABC-1 ^², ³
ABC1 ^², ³, ⁵
CERP ^², ³
FLJ14958 ^²
HDLDT1 ^², ⁵
MGC164864 ^²
MGC165011 ^²
OTTHUMP00000021833 ^²
TGD ^¹, ², ⁵
membrane-bound ^²

Descriptions
ATP binding cassette transporter 1 ^²
ATP-binding cassette 1 ^², ³
ATP-binding cassette transporter 1 ^³
ATP-binding cassette transporter A1 ^²
ATP-binding cassette, sub-family A (ABC1), member 1 ^²
ATP-binding cassette, sub-family A member 1 ^²
ATP-binding cassette, sub-family A, member 1 ^¹
Cholesterol efflux regulatory protein ^², ³

External Ids
HGNC: 29¹
Entrez Gene: 19²
UniProtKB: O95477³
Ensembl: ENSG00000165029⁷

Search outside databases for aliases for ABCA1 gene

Previous GC identifers: GC09M098343 GC09M099286 GC09M101000 GC09M102923 GC09M104622

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

EntrezGene summary for ABCA1:

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding

cassette (ABC) transporters. ABC proteins transport various molecules across extra- and

intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP,

MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1

subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.

With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the

cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's

disease and familial high-density lipoprotein deficiency. [provided by RefSeq]

UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477

Function: cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing

intracellular cholesterol transport

Gene Wiki entry for ABCA1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the ABCA1 gene

Entrez Gene cytogenetic band: 9q31.1 Ensembl cytogenetic band: 9q31.1 HGNC cytogenetic band: 9q31

ABCA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M106583: (about GC identifiers)

Start:	106,583,104 bp from pter
End:	106,730,257 bp from pter
Size:	147,154 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000009.10 NT_008470.18

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477 (See protein sequence)

Recommended Name: ATP-binding cassette sub-family A member 1

Size: 2261 amino acids; 254286 Da

Subunit: Interacts with MEGF10

Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Secondary accessions: Q5VX33 Q96S56 Q96T85 Q9NQV4 Q9UN06 Q9UN07 Q9UN08 Q9UN09

Post-translational modifications:

Phosphorylation on Ser-2054 regulates phospholipid efflux¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_005493.2

ENSEMBL proteins:

ENSP00000363865 ENSP00000363868 ENSP00000341712

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich CompoZr ZFN for ABCA1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (ABCA1)
	Human Recombinant Proteins from Abnova (ABCA1)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	IDA	10525055
GO:0005887	integral to plasma membrane	IDA	10525055
GO:0016020	membrane	IEA	--
GO:0045121	membrane raft	IDA	15469992
GO:0045335	phagocytic vesicle	IDA	15469992

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Antibodies for ABCA1:

	Browse Antibodies Central at Invitrogen
	Millipore Mono- and Polyclonal Antibodies for the study of ABCA1
	Browse Antibodies at Sigma-Aldrich
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (ABCA1), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (ABCA1)
	Novus Biologicals Antibodies for ABCA1

Assays for ABCA1:

	Browse Invitrogen for biochemical assays
	Millipore Kits and Assays for the Analysis of ABCA1
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

Graphical View of Domain Structure for InterPro Entry O95477

ProtoNet protein and cluster: O95477

UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477

Domain: Multifunctional polypeptide with two homologous halves, each containing an hydrophobic

membrane-anchoring domain and an ATP binding cassette (ABC) domain

Similarity: Belongs to the ABC transporter family. ABCA subfamily

Similarity: Contains 2 ABC transporter domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCA1)
		Millipore RNAi Products for the Analysis of ABCA1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (ABCA1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005502

Applied Biosystems Silencer® siRNAs for ABCA1

Sigma-Aldrich siRNA and siRNA Panels for ABCA1

Sigma-Aldrich shRNA for ABCA1

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clone in CMV expression vector: NM_005502
Myc/DDK tagged cDNA clone in CMV expression vector: NM_005502
untagged cDNA clones in CMV expression vector (see all 2): BC034824

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_005502

UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477

Function: cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing

intracellular cholesterol transport

Induction: By bacterial lipopolysaccharides (LPS). LPS regulates expression through a liver X

receptor (LXR) -independent mechanism. Repressed by ZNF202

Genatlas biochemistry entry for ABCA1:

ATP binding cassette superfamily,subfamily A,member 1,mouse ABC1 homolog,widely

expressed,cholesterol carrying out of the cell for uptake into HDL particles

15/16 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Abca1) (see all 16 ):

	cellular	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
lethality-prenatal/perinatal	liver/biliary system	muscle	renal/urinary system	reproductive system

5/11 Gene Ontology (GO) molecular function terms (links to tree view) (see all 11 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	IEA	--
GO:0005524	ATP binding	IEA	--
GO:0005543	phospholipid binding	IC	16702602
GO:0005548	phospholipid transporter activity	IDA	16702602
GO:0008509	anion transmembrane transporter activity	ISS	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

3 Sigma-Aldrich "Your Favorite Gene" Pathways for ABCA1 (Your Favorite Gene powered by Ingenuity)

LPS/IL-1 Mediated Inhibition of RXR Function
LXR/RXR Activation
PPAR&alpha

GeneDecks ABCA1 for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for ABCA1

5/71 Interacting proteins for ABCA1 (ENSP00000363868³ O95477^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 71 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARHGEF11	O15085¹	STRING (score=.846) EBI-784112, EBI-311099
ARHGEF12	Q9NZN5¹	STRING (score=.846) EBI-784112, EBI-821440
DLG2	Q15700¹	STRING (score=.846) EBI-784112, EBI-80426
DLG3	Q92796¹	STRING (score=.846) EBI-784112, EBI-80440
LIN7B	Q9HAP6¹	STRING (score=.846) EBI-784112, EBI-821335

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5/18 Gene Ontology (GO) biological process terms (links to tree view) (see all 18 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006810	transport	IEA	--
GO:0007040	lysosome organization	IDA	15163665
GO:0007186	G-protein coupled receptor protein signaling pathway	IMP	16443932
GO:0008202	steroid metabolic process	IEA	--
GO:0008203	cholesterol metabolic process	IEA	--

About this table

(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

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for ABCA1:

Agonist

Browse Tocris compounds for ABCA1
10/48 Novoseek chemical compound relationships for ABCA1 gene (see all 48 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
cholesterol	88.41	1037	17409096 (8), 18427282 (7), 12700343 (7), 18711208 (7) (see all 99)
22r-hydroxycholesterol	86.08	21	12401893 (2), 16142410 (1), 17767055 (1), 18427282 (1) (see all 14)
24(s),25-epoxycholesterol	84.44	6	16901265 (4), 15514210 (1), 17186944 (1)
sterol	78.19	31	11742879 (6), 16254198 (3), 15358760 (3), 16788211 (2) (see all 16)
lipid	74.26	220	18776170 (6), 19202195 (5), 11940086 (3), 10725792 (3) (see all 99)
abc2	73.17	3	11270397 (2), 9027511 (1)
gw 3965	72.96	1	15145986 (1)
phospholipid	71.88	89	12738681 (4), 16855366 (4), 14703508 (3), 11309399 (3) (see all 60)
cholesterol ester	70.60	9	17652712 (1), 12759900 (1), 18270459 (1), 11950702 (1) (see all 9)
27-hydroxycholesterol	70.14	3	17088262 (2), 16099444 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
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 Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (ABCA1)
		Millipore RNAi Products for the Analysis of ABCA1 Gene knock-down
		Abnova Chimera RNAi Products for Gene knock-down (ABCA1)

OriGene 29mer shRNA kit in GFP-retroviral vector: NM_005502

Sigma-Aldrich siRNA and siRNA Panels for ABCA1

Sigma-Aldrich shRNA for ABCA1

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_005502

REFSEQ mRNAs for ABCA1 gene:

NM_005502.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_005502

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_005502
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_005502
                                 untagged cDNA clones in CMV expression vector (see all 2): BC034824

Additional cDNA sequence:

AB037924.1 AB055982.1 AB208839.1 AB445477.1 AF165281.1 AF258627.1 AF285167.1 AJ012376.1

AK024328.1 AK027864.1 BC034824.1 BC141816.1 BC142693.1 BC146856.1

9 DOTS entries:

DT.414915 DT.75116842 DT.92430391 DT.92054245 DT.97780029 DT.40233262 DT.95163274 DT.40194073

DT.91746745

24/134 AceView cDNA sequences (see all 134 ):

BM728651 AB055982 Z40310 BQ026286 AA328733 NM_005502 BM769397 AI399824

AI802228 BE222116 BM768930 BE857175 BF988872 AA521292 Z44377 BF438337

BM823180 BC034824 BM153383 BU753834 C01846 AA748860 AU121731 BF891375

highest scoring ESTs for ABCA1:

AF258627 AF285167 AJ012376 AK024328 AL048433 Z44377 AA292158 AA357618 AA493786 AA521292

Unigene Cluster for ABCA1:

ATP-binding cassette, sub-family A (ABC1), member 1

Hs.719214 [show with all ESTs]

Unigene Representative Sequence: AF285167

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for ABCA1

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14a	·	14b	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21	^	22	^	23	^
SP1:																																							-
SP2:
SP3:					-
SP4:

ExUns:	24	^	25	^	26	^	27	^	28	^	29	^	30	^	31	^	32	^	33	^	34	^	35	^	36	^	37	^	38	^	39	^	40	^	41	^	42	^	43	^	44	^	45	^	46	^	47	^	48	^	49a	·
SP1:																																																			-
SP2:
SP3:
SP4:

ExUns:	49b	^	50a	·	50b
SP1:
SP2:
SP3:
SP4:

About this scheme

ECgene alternative splicing isoforms for ABCA1

3 Ensembl transcripts including schematic representations:

ENST00000374733 ENST00000374736 ENST00000341579

(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 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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ABCA1 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for ABCA1

¹ / ² / ³

16 probe-sets matching ABCA1 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
32000_g_at²^{, 3}	U95-A	1	1.00	1.00	-0.29	1.20	AI344681	0.60	1.00	0.82	1
52656_s_at²^{, 3}	U95-B	1	1.00	1.00	0.92	1.37	AW019972	0.60	1.00	0.82	1
31998_at²^{, 3}	U95-A	2	1.00	0.97	0.00	0.38	AJ012376	0.80	1.00	0.91	1
60496_r_at²^{, 3}	U95-C	1	0.94	1.00	0.93	0.89	AL048433	0.80	1.00	0.91	1
78253_r_at²^{, 3}	U95-E	1	0.81	1.00	0.70	1.06	AL038231	0.40	1.00	0.76	1
31999_at²^{, 3}	U95-A	1	0.38	1.00	-0.24	0.82	AI344681	0.60	1.00	0.82	1
78250_f_at*²^{, 3}	U95-E	1	--	--	0.33	0.70	AL038231	0.40	1.00	0.76	1
203504_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_005502	0.60	1.00	0.82	1
216066_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AK024328	0.80	1.00	0.91	1
203505_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF285167	0.80	1.00	0.91	1
215869_at*²^{, 3}	U133-A	1	1.00	1.00	--	--	AK022254	0.60	1.00	0.82	1
203504_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
216066_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203505_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
1570279_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
215869_at*²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks ABCA1 for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.719214
Expression variation in blood from EXPOLDB for ABCA1
UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477
Tissue specificity: Widely expressed, but most abundant in macrophages

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ABCA1 gene from 5/11 species (see all 11 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ABCA1¹	--	ATP-binding cassette, sub-family A (ABC1), member 1	90.93(n) 95.13(a)	481651 XM_538773.2 XP_538773.2
chimpanzee (Pan troglodytes)	ABCA1¹	--	ATP-binding cassette, sub-family A (ABC1), member 1	99.57(n) 99.56(a)	464630 XM_001138040.1 XP_001138040.1
cow (Bos taurus)	ABCA1¹	--	ATP-binding cassette, sub-family A (ABC1), member 1	90.71(n) 94.74(a)	535379 NM_001024693.1 NP_001019864.1
rat (Rattus norvegicus)	Abca1¹	--	ATP-binding cassette, sub-family A (ABC1), member 1	88.37(n) 93.73(a)	313210 NM_178095.2 NP_835196.1
mouse (Mus musculus)	Abca1^{1, 5}	4 (23.10 cM)⁵	ATP-binding cassette, sub-family A (ABC1), member 1^{1, 5}	88.99(n)¹ 95.31(a)¹	11303¹ NM_013454.3¹ NP_038482.3¹ AF287263⁵ AI845514⁵ (see all 26)

About this table Species with no ortholog for ABCA1

ENSEMBL Gene Tree for ABCA1

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

Paralogs for ABCA1 gene

ABCA4² ABCA7²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/1239 NCBI SNPs in ABCA1 are shown (see all 1239 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 452)

AB	SNP ID	Valid	Chr 9 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs363717^1,2	A,C,F,H,O	106584521(-)	`TTCCAA/GAATTT`	1	--	ut3¹		20	PA NA EA MN EU WA	2607
	rs1800977^1,2	A,C,F,H,O	106730271(-)	`TAGTCC/TCGGCA`	1	--	ng3¹ ese³		5	MN EU EA WA	602
	rs2230808^1,2	A,C,F,H,O	106602625(-)	`CACCAG/AAAATA`	1	R/K	mis¹		27	MN EA CSAM EU WA NA	3832
	rs4149339^1,2	A,C,F,H	106584977(-)	`CAATAT/CTGGGC`	1	--	ut3¹ ese³		9	EU EA WA NA	870
	rs4149338^1,2	A,C,F,H	106585724(-)	`GTCTCT/CAGGCA`	1	--	ut3¹ ese³		5	EU EA WA NA	448
	rs2230806^1,2	A,C,F,H	106660688(-)	`ACCAAG/AGGAGA`	1	K/R	mis¹ trp³		18	MN CSAM EA EU WA NA	1566
	rs4149340^1,2	A,C,F,H	106584506(-)	`ATTAAC/TGCTAA`	1	--	ut3¹		5	EU EA WA NA	466
	rs2482432^1,2	A,C,F,H	106582993(+)	`AACATT/CTGAAT`	1	--	ng5¹		4	EU EA WA	418
	rs1800978^1,2	C,F,H	106705799(-)	`CTGGGG/CGTGCT`	1	--	ut5¹ ese³		5	EU EA WA NA	416
	rs2422493^1,2	C,F,H	106730816(-)	`CTGTCC/TGCCTT`	1	--	ng3¹		5	PA MN EA	570

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HapMap Linkage Disequilibrium images for ABCA1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 600046 disorders: 205400 604091 143890

UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477

Defects in ABCA1 are a cause of high density lipoprotein deficiency type 1 (HDLD1)

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

Defects in ABCA1 are a cause of high density lipoprotein deficiency type 2 (HDLD2)

[MIM:604091]; also known as familial hypoalphalipoproteinemia (FHA). HDLD2 is 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

10/41 Novoseek disease relationships for ABCA1 gene (see all 41 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tangier disease	97.50	159	10535983 (6), 12236582 (3), 11855831 (2), 12576507 (2) (see all 99)
lipoprotein deficiencies	88.12	8	11785958 (2), 11476961 (1), 12706378 (1), 15177564 (1) (see all 6)
hypoalphalipoproteinemia	82.92	8	11279031 (2), 15767853 (1), 16610615 (1), 17287470 (1) (see all 6)
atherosclerosis	77.24	98	19201688 (7), 11752403 (5), 15528481 (3), 10882340 (2) (see all 59)
hyperalphalipoproteinemia	65.38	1	11457883 (1)
scott syndrome	56.58	2	15790791 (1), 16855366 (1)
lipoprotein disorder	53.11	1	15019541 (1)
cardiovascular diseases	50.30	20	15262183 (2), 16183915 (2), 17093293 (1), 16446539 (1) (see all 13)
coronary artery disease	50.10	25	11086027 (2), 11940086 (2), 18996286 (2), 17412755 (2) (see all 19)
atherosclerotic plaque	46.64	9	15961705 (2), 15528463 (2), 18221072 (1), 17922810 (1) (see all 7)

About this table

Human Gene Mutation Database: ABCA1
Genetic Association Database: ABCA1
Human Genome Epidemiology Navigator: ABCA1 (102 documents)

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

No Link Between Genetically Low HDL Cholesterol and Heart Disease Risk

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

10/665 PubMed articles for ABCA1 gene (see all 665 ):

A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia. (PubMed id 12624133)^{1, 3, 4, 6} Cenarro A.... Civeira F. (2003)
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. (PubMed id 11238261)^{1, 3, 4, 6} Clee S.M....Hayden M.R. (2001)
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. (PubMed id 10533863)^{1, 3, 4} Marcil M.... Hayden M.R. (1999)
Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study. (PubMed id 11809185)^{1, 3, 6} van Dam M.J....Kastelein J.J. (2002)
Common and rare ABCA1 variants affecting plasma HDL cholesterol. (PubMed id 10938021)^{1, 3, 4} Wang J.... Hegele R.A. (2000)
Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. (PubMed id 11785958)^{1, 3, 4} Nishida Y.... Matsuzawa Y. (2002)
The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux. (PubMed id 11279031)^{1, 3, 4} Porsch-Oezcueruemez M.... Schmitz G. (2001)
Associations between serum high-density lipoprotein cholesterol or apolipoprotein AI levels and common genetic variants of the ABCA1 gene in Japanese school-aged children. (PubMed id 14767869)^{1, 3, 6} Yamakawa-Kobayashi K....Hamaguchi H. (2004)
ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. (PubMed id 11940086)^{1, 3, 6} Zwarts K.Y....Hayden M.R. (2002)
Novel ABCA1 compound variant associated with HDL cholesterol deficiency. (PubMed id 12009425)^{1, 3, 4} Hong S.H.... Miller M. (2002)

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

		AND	OR
Aliases
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, and/or H-InvDB)
About This Section

Entrez Gene: 19	HGNC: 29	AceView: ABCA1	Ensembl:ENSG00000165029	euGenes: HUgn19
ECgene: ABCA1	H-InvDB: ABCA1

(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)
About This Section

Name	Description
GeneReviews	http://www.genetests.org/query?gene=ABCA1
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCA1

Licensable Technologies for ABCA1
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for ABCA1:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for ABCA1-related products

	Millipore Custom Antibody & Bulk Services
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	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
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	Recombinant & Natural Proteins

	Recombinant Proteins (ABCA1)
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Antibodies for ABCA1

GeneCards Homepage - Last full update: 1 Jul 2009 Incremental update: 13 Oct 2009

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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ABCA1 Gene

protein-coding GIFtS: 66

Aliases &
Descriptions
for ABCA1

Summaries
for ABCA1

Genomic Location
for ABCA1

Proteins
for ABCA1

Protein Domains/
Families
for ABCA1

Gene Function
for ABCA1

Pathways & Interactions
for ABCA1

Drugs & Compounds
for ABCA1

Transcripts
for ABCA1

Expression
for ABCA1

Orthologs
for ABCA1

Paralogs
for ABCA1

SNPs/Variants
for ABCA1

Disorders & Mutations
for ABCA1

Medical News
for ABCA1

Publications
for ABCA1

Search for ABCA1

Genome Databases showing ABCA1

Other Databases showing ABCA1

Specialized Databases showing ABCA1

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for ABCA1

Services
for ABCA1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ABCA1 Gene

protein-coding GIFtS: 66

Aliases & Descriptionsfor ABCA1

Summariesfor ABCA1

Genomic Locationfor ABCA1

Proteinsfor ABCA1

Protein Domains/Familiesfor ABCA1

Gene Functionfor ABCA1

Pathways & Interactionsfor ABCA1

Drugs & Compoundsfor ABCA1

Transcriptsfor ABCA1

Expression for ABCA1

Orthologsfor ABCA1

Paralogsfor ABCA1

SNPs/Variantsfor ABCA1

Disorders & Mutationsfor ABCA1

Medical Newsfor ABCA1

Publicationsfor ABCA1

Search for ABCA1

Genome Databases showing ABCA1

Other Databases showing ABCA1

Specialized Databases showing ABCA1

Licensable Technologiesfor ABCA1

Servicesfor ABCA1

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for ABCA1

Summaries
for ABCA1

Genomic Location
for ABCA1

Proteins
for ABCA1

Protein Domains/
Families
for ABCA1

Gene Function
for ABCA1

Pathways & Interactions
for ABCA1

Drugs & Compounds
for ABCA1

Transcripts
for ABCA1

Expression
for ABCA1

Orthologs
for ABCA1

Paralogs
for ABCA1

SNPs/Variants
for ABCA1

Disorders & Mutations
for ABCA1

Medical News
for ABCA1

Publications
for ABCA1

Licensable Technologies
for ABCA1

Services
for ABCA1