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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ABCA1 Gene

protein-coding GIFtS: 69
GCID: GC09M107543

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

(Previous symbols: ABC1, HDLDT1)

Explore 81 diseases affiliated with
ABCA1 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
ATP-Binding Cassette, Sub-Family A (ABC1), Member 1¹ ²		ATP-Binding Cassette Transporter A1²
ABC1¹ ² ³ ⁵		Membrane-Bound¹
HDLDT1¹ ² ⁵		ATP-Binding Cassette 1³
TGD¹ ² ⁵		ATP-Binding Cassette Transporter 1³
Cholesterol Efflux Regulatory Protein² ³		EC 2.7.7.8⁸
ABC-1² ³		EC 2.8.1.8⁸
CERP² ³		EC 3.6.3⁸
ATP-Binding Cassette Sub-Family A Member 1²		EC 3.6.3.41⁸

External Ids:	HGNC: 29¹	Entrez Gene: 19²	Ensembl: ENSG00000165029⁷	OMIM: 600046⁵	UniProtKB: O95477³

Export aliases for ABCA1 gene to outside databases

Previous GC identifers: GC09M098343 GC09M099286 GC09M101000 GC09M102923 GC09M104622 GC09M106583 GC09M077145

(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 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, Jul 2008)

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 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_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ABCA1 gene promoter:
CREB STAT1 Sp1 AP-1 ATF-2 deltaCREB c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ABCA1 promoter sequence

Search SABiosciences Chromatin IP Primers for ABCA1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABCA1

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

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)
ABCA1 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M107543: view genomic region (about GC identifiers)

Start:	107,543,283 bp from pter	End:	107,690,518 bp from pter
Size:	147,236 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: ABCA1_HUMAN, O95477 (See protein sequence)

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

Size: 2261 amino acids; 254302 Da

Subunit: Interacts with MEGF10

Subcellular location: Membrane; Multi-pass membrane protein

Sequence caution: Sequence=AAD49849.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=CAA10005.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q5VX33 Q96S56 Q96T85 Q9NQV4 Q9UN06 Q9UN07 Q9UN08 Q9UN09

Explore the universe of human proteins at neXtProt for ABCA1: NX_O95477

Post-translational modifications:

Phosphorylation on Ser-2054 regulates phospholipid efflux¹

Palmitoylation by DHHC8 is essential for membrane localization¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O95477

4/5 DME Specific Peptides for ABCA1 (O95477) (see all 5)

LDEPTAG

LDEPTTG

YVVLTSV

NGAGKTT

ABCA1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005493.2

ENSEMBL proteins:

ENSP00000363868 ENSP00000416623 ENSP00000363865

Reactome Protein details: O95477
Human Recombinant Protein Products:

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	Uscn Proteins for ABCA1

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005624	membrane fraction	--	--
GO:0005794	Golgi apparatus	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0005887	integral to plasma membrane	IDA	10525055

ABCA1 for ontologies About GeneDecksing

ABCA1 Antibody Products:

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	Uscn ELISAs and CLIAs for ABCA1

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

ABCA1 for domains About GeneDecksing

4 InterPro domains/families:

IPR003439 ABC_transporter-like

IPR003593 AAA+_ATPase

IPR026082 ABC_A

IPR017871 ABC_transporter_CS

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 a hydrophobic membrane-anchoring domain

and an ATP binding cassette (ABC) domain

Similarity: Belongs to the ABC transporter superfamily. ABCA family

Similarity: Contains 2 ABC transporter domains

(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: 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

Enzyme Numbers (IUBMB): EC 3.6.3.41² EC 3.6.3² EC 2.7.7.8² EC 2.8.1.8²

miRNA Products:		miRTarBase miRNAs that target ABCA1: hsa-mir-33b (MIRT003670), hsa-mir-33a (MIRT003672)

		OriGene 3'-UTR Clone: ABCA1 Browse MicroRNA Expression Plasmids
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		8/113 QIAGEN miScript miRNA Assays for microRNAs that regulate ABCA1 (see all 113):
		hsa-miR-140-5p hsa-miR-520e hsa-miR-520f hsa-miR-3194-5p hsa-miR-106a hsa-miR-199a-3p hsa-miR-128 hsa-miR-93

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABCA1

Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	12084722
GO:0005524	ATP binding	IDA	11700048
GO:0005543	phospholipid binding	IC	16702602
GO:0005548	phospholipid transporter activity	IDA	16702602
GO:0008509	anion transmembrane transporter activity	ISS	--

ABCA1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for ABCA1: Abca1^tm2Jp Abca1^tm1Blt Abca1^tm1Wpfl Abca1^tm1.1Jp Abca1^tm1Jdm
     15/18 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Abca1) (see all 18):

cardiovascular system	cellular	digestive/alimentary	embryogenesis	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	liver/biliary system
mortality/aging	muscle	nervous system	other	renal/urinary system

ABCA1 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 - 5/15 super-pathways (see all 15) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

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

Lipoprotein metabolism

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

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

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

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

1.00

Expression of ABCA1

Expression of ABCA1

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for ABCA1

	Selected targets of CREB1
	Selected targets of HNF1

2 GeneGo (Thomson Reuters) Pathways for ABCA1

	Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
	Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF)

5 BioSystems Pathways for ABCA1

	Statin Pathway
	Nuclear receptors in lipid metabolism and toxicity
	Folate Metabolism
	Selenium Pathway
	RXR and RAR heterodimerization with other nuclear receptor

5/9 Reactome Pathways for ABCA1 (see all 9)

	Expression of ABCA1
	Metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
	Lipid digestion, mobilization, and transport

2 Kegg Pathways (Kegg details for ABCA1):

	ABC transporters
	Fat digestion and absorption

ABCA1 for pathways About GeneDecksing

Interactions:

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

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

5/64 Interacting proteins for ABCA1 (O95477^{1, 2, 3} ENSP00000363868⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SNTB1	Q13884¹^,³, ENSP00000378965⁴	EBI-784112,EBI-295843 I2D: score=2 STRING: ENSP00000378965
SNTB2	Q13425²^,³, ENSP00000338191⁴	MINT-59502 MINT-59503 MINT-59501 I2D: score=4 STRING: ENSP00000338191
SNTA1	Q13424¹^,³, ENSP00000217381⁴	EBI-784112,EBI-717191 I2D: score=3 STRING: ENSP00000217381
ARHGEF11	O15085³, ENSP00000357177⁴	I2D: score=3 STRING: ENSP00000357177
ARHGEF12	Q9NZN5³, ENSP00000380942⁴	I2D: score=2 STRING: ENSP00000380942

About this table

Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002790	peptide secretion	IEA	--
GO:0006497	protein lipidation	IEA	--
GO:0006629	lipid metabolic process	TAS	--
GO:0006820	anion transport	--	--
GO:0006911	phagocytosis, engulfment	IEA	--

ABCA1 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

ABCA1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ABCA1

2 HMDB Compounds for ABCA1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Cholesterol	(+)-ent-Cholesterol (see all 39)	57-88-5	--
Cyclic AMP	Cyclic AMP (see all 19)	60-92-4	--

3 DrugBank Compounds for ABCA1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Probucol	4,4'- (Isopropylidenedithio)bis(2, 6-di-tert-butylphenol) (see all 8)	23288-49-5	target	inhibitor	19075491 20075420 15514211 19458386 19427182 1868500
Glyburide	Apo-Glibenclamide (see all 4)	10238-21-8	target	inhibitor	14660039 12426219 15039140 15102890 15905177
Adenosine triphosphate	5'-ATP (see all 8)	56-65-5	target	--	16858612 17224860 17135600

10/81 Novoseek chemical compound relationships for ABCA1 gene (see all 81) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cholesterol	88.9	1179	17409096 (8), 18427282 (7), 12700343 (7), 20037141 (7) (see all 99)
22r-hydroxycholesterol	85.1	21	12401893 (2), 16142410 (1), 17767055 (1), 18427282 (1) (see all 14)
24(s),25-epoxycholesterol	82.9	6	16901265 (4), 15514210 (1), 17186944 (1)
sterol	78.6	39	11742879 (6), 16254198 (3), 15358760 (3), 16788211 (2) (see all 22)
abc2	76.7	4	11270397 (2), 19806386 (1), 9027511 (1)
lipid	75.6	262	18776170 (6), 19202195 (5), 19151332 (4), 20185793 (4) (see all 99)
27-hydroxycholesterol	72.6	3	17088262 (2), 16099444 (1)
cholesterol ester	71.9	12	17652712 (1), 12759900 (1), 18270459 (1), 19644050 (1) (see all 11)
phospholipid	71.2	91	12738681 (4), 16855366 (4), 14703508 (3), 11309399 (3) (see all 62)
gw 3965	68.6	1	15145986 (1)

Search CenterWatch for drugs/clinical trials and news about ABCA1

(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,
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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 ABCA1 gene:

NM_005502.3

Unigene Cluster for ABCA1:

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

Hs.659274 [show with all ESTs]

Unigene Representative Sequence: NM_005502

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

ENST00000374736(uc004bcl.3) ENST00000494467 ENST00000423487 ENST00000374733(uc004bcm.3)

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Additional cDNA sequence:

AB037924.1 AB055982.1 AB445477.1 AF165281.1 AF258627.1 AF285167.1 AJ012376.1 AK024328.1

AK027864.1 BC034824.1 BC146856.1

9 DOTS entries:

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

DT.91746745

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

BX955241 AB055982 BM823180 BC034824 BQ026286 BE222116 BF438337 Z40310

BM768930 AA769130 BM153383 AA292158 BU753834 AA748860 BF891375 C01846

CA976033 AA434152 AU121731 AA731742 AA669024 AL701341 NM_005502 AA328733

GeneLoc Exon Structure

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

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:

ECgene alternative splicing isoforms for ABCA1

(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

ABCA1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

ABCA1 expression in embryonic tissues and stem cells

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

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Neural Tube

Spinal Neural Tube Cells

Neural Ectoderm

Bone

Mandibular Process

Bone

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Spinal Cord

Presumptive Spinal Cord

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ABCA1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ABCA1

SOURCE GeneReport for Unigene cluster: Hs.659274

UniProtKB/Swiss-Prot: ABCA1_HUMAN, O95477

Tissue specificity: Widely expressed, but most abundant in macrophages

SABiosciences Expression via Pathway-Focused PCR Arrays including ABCA1:

Atherosclerosis in human mouse rat

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

Drug Transporters in human mouse rat

Alzheimer's Disease in human mouse rat

Fatty Liver in human mouse rat

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In Situ
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(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for ABCA1 gene from 5/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ABCA1¹	ATP-binding cassette, sub-family A (ABC1), member 1	78.51(n) 85.8(a)		373945 NM_204145.1 NP_989476.1
lizard (Anolis carolinensis)	Reptilia	ABCA1⁶	--	84(a)	1 ↔ 1	2(75535339-75656283)
zebrafish (Danio rerio)	Actinopterygii	abca1b²	ATP-binding cassette, sub-family A (ABC1), member 1B	72.88(n)		321246 57041705
worm (Caenorhabditis elegans)	Secernentea	abt-2⁶	ABC Transporter family member (abt-2)	24(a)	1 → many	I(2255925-2272868)
thale cress (Arabidopsis thaliana)	eudicotyledons	ABCA1¹	ABC transporter A family member 1	47.84(n) 38.9(a)		818768 NM_180023.3 NP_850354.2

ENSEMBL Gene Tree for ABCA1 (if available)
TreeFam Gene Tree for ABCA1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ABCA1 gene

ABCG1² ABCA10² ABCA13² ABCA3² ABCG8² ABCA2² ABCA6² ABCA5²

ABCG2² ABCA8² ABCG4² ABCA4² ABCA12² ABCA7² ABCG5² ABCA9²

16 SIMAP similar genes for ABCA1 using alignment to 8 protein entries: ABCA1_HUMAN (see all proteins):

ABC-1 ABC1 DKFZp547P193 DKFZp434E1030 ABC2 DKFZp781N1972

ABCA7 ABCA4 ABCA2 DKFZp686K07118 ABCA12 DKFZp313D2411

ABCA13 ABCA3 ABCG2 ABCA3 variant protein

ABCA1 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 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137854496^1,2	C	pathogenic	101563991(-)	`CGTCTC/GGGGGG`	2	S W	mis¹		0	--	--	--	--
rs2853578^1,2	C	pathogenic	101564012(-)	`CTTGCA/GGGATG`	2	Q R	mis¹ ese³		1		NA	2
rs28937314^1,2	C	pathogenic	101572508(-)	`GCCACA/CATGGA`	2	N H	mis¹ ese³		2		NA	4
rs28933692^1,2	C	pathogenic	101576199(-)	`TGGGGG/TACAGG`	2	D Y	mis¹ ese³		1		NA	2
rs2230806^1,2	C,F,A,H,	other	101536462(-)	`ACCAAG/AGGAGA`	2	/K /R	mis¹ trp³		40		MN NS EA NA WA CSA EU	9379
rs76480790^1,2	F,	--	77144974(+)	`TCACCG/AATATT`	1	--	ds500¹		1		WA	118
rs79840023^1,2	C	--	77145509(+)	`AACATA/GGAAAT`	1	--	ut3¹		5		NA	1060
rs10991377^1,2	C,F,	--	77145543(+)	`AGTTAT/CTGACA`	1	--	ut3¹		6		NA	1180
rs77877520^1,2	C,F,	--	77145680(+)	`CGTAAA/GGTGCT`	1	--	ut3¹		6		WA NA	1178
rs78713068^1,2	C	--	77145863(+)	`GATAAT/CAACAA`	1	--	ut3¹		5		NA	1060

HapMap Linkage Disequilibrium report for ABCA1 (107543283 - 107690518 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for ABCA1
4 CNVs: 36902 0650 65481 62935
Human Gene Mutation Database (HGMD): ABCA1

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(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.)
About This Section

ABCA1 for disorders           About GeneDecksing

OMIM gene information: 600046
OMIM 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

20/81 diseases for ABCA1 (see all 81): About MalaCards

coronary artery disease in familial hypercholesterolemia, protection against tangier disease cholesterol chediak-higashi syndrome

niemann-pick disease cerebral amyloid angiopathy xeroderma pigmentosum, group c hdl deficiency

pre-eclampsia scott syndrome hyperalphalipoproteinemia pick's disease

type 2 diabetes mellitus surfactant deficiency hypoalphalipoproteinemia coronary heart disease

5 diseases from the University of Copenhagen DISEASES database for ABCA1:

Tangier disease Atherosclerosis Coronary heart disease Alzheimer's disease

Diabetes mellitus

10/45 Novoseek disease relationships for ABCA1 gene (see all 45) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tangier disease	97.4	172	10535983 (6), 12236582 (3), 11855831 (2), 12576507 (2) (see all 99)
lipoprotein deficiencies	87.1	8	11785958 (2), 11476961 (1), 12706378 (1), 15177564 (1) (see all 6)
hypoalphalipoproteinemia	81.9	8	11279031 (2), 15767853 (1), 16610615 (1), 17287470 (1) (see all 6)
atherosclerosis	77.8	108	19201688 (7), 11752403 (5), 20137092 (3), 15528481 (3) (see all 67)
hyperalphalipoproteinemia	63.7	1	11457883 (1)
scott syndrome	53.5	2	15790791 (1), 16855366 (1)
lipoprotein disorder	51.2	1	15019541 (1)
atherosclerotic plaque	51	11	15961705 (2), 15528463 (2), 18221072 (1), 20137092 (1) (see all 9)
cardiovascular diseases	50.5	21	15262183 (2), 16183915 (2), 17093293 (1), 16446539 (1) (see all 14)
coronary artery disease	48.4	26	11086027 (2), 11940086 (2), 18996286 (2), 17412755 (2) (see all 20)

Genetic Association Database (GAD): ABCA1
Human Genome Epidemiology (HuGE) Navigator: ABCA1 (163 documents)

Export disorders for ABCA1 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 ABCA1 gene, integrated from 9 sources (see all 897):
(articles sorted by number of sources associating them with ABCA1)

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Multiple rare alleles contribute to low plasma levels of HDL cholesterol. (PubMed id 15297675)^{1, 2, 4, 9} Cohen J.C....Hobbs H.H. (2004)
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, 2, 4, 9} Cenarro A.... Civeira F. (2003)
ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore. (PubMed id 12709788)^{1, 2, 4, 9} Tan J.H.... Heng C.K. (2003)
Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. (PubMed id 11238261)^{1, 2, 4, 9} Clee S.M....Hayden M.R. (2001)
Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux. (PubMed id 10533863)^{1, 2, 9} 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, 4, 9} van Dam M.J....Kastelein J.J. (2002)
Common and rare ABCA1 variants affecting plasma HDL cholesterol. (PubMed id 10938021)^{1, 2, 9} Wang J.... Hegele R.A. (2000)
Screening for functional sequence variations and mutations in ABCA1. (PubMed id 15262183)^{1, 2, 9} Probst M.C.... Schmitz G. (2004)
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, 2, 9} 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, 2, 9} Porsch-Oezcueruemez M.... Schmitz G. (2001)

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

Query String		PubMed OMIM NCBI Bookshelf
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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: 19	HGNC: 29	AceView: ABCA1	Ensembl:ENSG00000165029	euGenes: HUgn19
ECgene: ABCA1	Kegg: 19	H-InvDB: ABCA1

(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 ABCA1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA1
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=ABCA1
ABCMdb	http://abcmutations.hegelab.org/proteinDetails?uniprot_id=O95477

Intellectual Property for ABCA1 gene
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Patent Information for ABCA1 gene:
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GeneCards and IP:
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ABCA1 Gene

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

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Hypoalphalipoproteinemia
lipoprotein disorder
Cerebral Amyloid Angiopathy
Neurodegenerative Diseases
Amyloid deposition
HYPERALPHALIPOPROTEINEMIA
SCOTT SYNDROME
atherosclerotic plaque
Cystic Fibrosis
Hyperlipidemia
Niemann-Picks Disease Type C
retinopathy
Myocardial Ischemia
Alzheimers Disease
Atherosclerosis
Breast Cancer
Hypercholesterolemia
HEPATOCELLULAR CARCINOMA
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Coronary Atherosclerosis
Xanthomatosis
chediak-higashi syndrome
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OVARIAN CARCINOMA
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Inflammation
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ABCA1 Gene

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

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