ABCA1

Gene Information
 
Gene Symbol
ABCA1
 
Aliases
ABC-1, ABC1, CERP, HDLDT1, TGD
 
Entrez Gene ID
19
 
Gene Name
ATP-binding cassette, sub-family A (ABC1), member 1
 
Chromosomal Location
9q31
 
HGNC ID
29
 
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
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

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
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
 
UniProt
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00005 ABC_tran ABC transporter
PF12698 ABC2_membrane_3 ABC-2 family transporter protein
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions

Associated Diseases

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
   
References
 
Primary:

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:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
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 

 

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