ABCA1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

ABCA1

Aliases

ABC-1, ABC1, CERP, HDLDT1, TGD

Entrez Gene ID

Gene Name

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

Chromosomal Location

9q31

HGNC ID

Summary

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)

GeneCards ID

GC09M107543

UniGene

Hs.659274 , sub-family A (ABC1), member 1

RefSeq DNA

NC_000009.11, NT_008470.19

RefSeq mRNA

NM_005502.3

e!Ensembl

Gene	ENSG00000165029
Transcript	ENST00000374736, ENST00000494467, ENST00000423487, ENST00000374733
Protein	ENSP00000363868, ENSP00000416623, ENSP00000363865

Gene Ontology (GO)

Show/Hide all(35 )

GO ID	Ontology	Definition	Evidence	Reference
GO:0007040	Biological process	Lysosome organization	IDA	15163665
GO:0007186	Biological process	G-protein coupled receptor protein signaling pathway	IMP	16443932
GO:0008203	Biological process	Cholesterol metabolic process	IDA	14747463
GO:0010745	Biological process	Negative regulation of macrophage derived foam cell differentiation	TAS	18490524
GO:0010887	Biological process	Negative regulation of cholesterol storage	TAS	18490524
GO:0016197	Biological process	Endosome transport	IDA	14747463
GO:0030819	Biological process	Positive regulation of cAMP biosynthetic process	IMP	14701824
GO:0032367	Biological process	Intracellular cholesterol transport	IMP	10431236
GO:0032488	Biological process	Cdc42 protein signal transduction	IMP	16443932
GO:0033344	Biological process	Cholesterol efflux	IMP	16443932
GO:0033700	Biological process	Phospholipid efflux	IMP	16702602
GO:0034380	Biological process	High-density lipoprotein particle assembly	IMP	10431236
GO:0042632	Biological process	Cholesterol homeostasis	IDA	10431236
GO:0043691	Biological process	Reverse cholesterol transport	IMP	10431236
GO:0050702	Biological process	Interleukin-1 beta secretion	IMP	11855831
GO:0055091	Biological process	Phospholipid homeostasis	IMP	16702602
GO:0060155	Biological process	Platelet dense granule organization	IMP	15163665
GO:0005622	Cellular component	Intracellular	IMP	10431236
GO:0005624	Cellular component	Membrane fraction	IDA	10525055
GO:0005886	Cellular component	Plasma membrane	EXP	15280376
GO:0005887	Cellular component	Integral to plasma membrane	IDA	10525055
GO:0030139	Cellular component	Endocytic vesicle	IDA	14747463
GO:0045121	Cellular component	Membrane raft	IDA	15469992
GO:0045335	Cellular component	Phagocytic vesicle	IDA	15469992
GO:0005515	Molecular function	Protein binding	IPI	15469992
GO:0005524	Molecular function	ATP binding	IDA	11700048
GO:0005543	Molecular function	Phospholipid binding	IC	16702602
GO:0005548	Molecular function	Phospholipid transporter activity	IDA	16702602
GO:0015485	Molecular function	Cholesterol binding	IC	12084722
GO:0017127	Molecular function	Cholesterol transporter activity	IDA	12084722
GO:0030349	Molecular function	Syntaxin-13 binding	IPI	15469992
GO:0031267	Molecular function	Small GTPase binding	IPI	16443932
GO:0034185	Molecular function	Apolipoprotein binding	IPI	11162594
GO:0034186	Molecular function	Apolipoprotein A-I binding	IPI	11162594
GO:0034188	Molecular function	Apolipoprotein A-I receptor activity	IDA	16443932

Protein Information

Protein Name

Membrane-bound , ATP-binding cassette transporter 1 , ABC-1 , OTTHUMP00000021833 , ATP-binding cassette 1 , TGD , cholesterol efflux regulatory protein , ATP-binding cassette, sub-family A (ABC1), member 1, ABC1 , ATP-binding cassette transporter A1 , HDLDT1 , MGC164864 , ATP-binding cassette sub-family A member 1 , MGC165011 , Cholesterol efflux regulatory protein , CERP , FLJ14958

Function

cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport

Refseq Proteins

NP_005493.2

UniProt

O95477

InterPro

Accessions

IPR003439, IPR003593, IPR017871

Pfam

Pfam Accession	Pfam ID
PF00005	ABC_tran	ABC transporter
PF12698	ABC2_membrane_3	ABC-2 family transporter protein

KEGG

ABC transporters, Fat digestion and absorption

OMIM

600046

Phenotype MIM ID

205400, 604091, 143890

Interactions

STRING	MINT	I2D
ENSP00000363868	MINT-239561	O95477

Associated Diseases

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Diseases	References
Alzheimers disease	17324514, 15288432, 16596262, 17510949
Amyloid deposition	16207713, 18202749
Cardiovascular diseases	15262183, 16183915, 17093293, 16446539
Dyslipidemia	17700364, 16501936, 18680692
Hypercholesterolemia	18097620, 12624133
Inflammation	10725792, 18752326, 20103810, 20137092
Obesity	17923263, 17287470
Polycystic ovary syndrome (PCOS)	22035022
Renal disease	18802933, 19859071
Stroke	17553166, 16446539, 16806540
Tangier disease	10535983, 12236582, 11855831, 12576507
Xanthomatosis	11950702

References

Primary:

PMID: 22035022

Effect Of G2706A and G1051A polymorphisms of the ABCA1 gene on the lipid, oxidative stress and homocystein levels in Turkish patients with polycystic ovary syndrome.

Karadeniz Muammer, Erdogan Mehmet, Ayhan Zengi, Yalcin Murat, Olukman Murat, Cetinkalp Sevki, Alper Gulinnaz E, Eroglu Zuhal, Tetik Asli, Cetintas Vildan, Ozgen Ahmet G, Saygili Fusun, Yilmaz Candeger

Department of Endocrinology, Sifa University, Health Application and Research Center, Izmir, Turkey. muammermd@hotmail.com.

Lipids Health Dis. 2011 Oct 28;10:193.

Supporting Literature:

Show/Hide all(1)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
22035022		PCOS	G2706A	Rotterdam criteria	Related	98 PCOS patients and 93 healthy controls	The study found a higher percentage of AA genotype and A allele of ABCA G2706A in PCOS patients compare to controls