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    ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1 [ Homo sapiens (human) ]

    Gene ID: 19, updated on 13-Jun-2013
    Official Symbol
    ABCA1provided by HGNC
    Official Full Name
    ATP-binding cassette, sub-family A (ABC1), member 1provided by HGNC
    Primary source
    HGNC:29
    See related
    Ensembl:ENSG00000165029; HPRD:02501; MIM:600046; Vega:OTTHUMG00000020417
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TGD; ABC1; CERP; ABC-1; HDLDT1
    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, Jul 2008]
    Location :
    9q31.1
    Sequence :
    Chromosome: 9; NC_000009.11 (107543283..107690527, complement)
    See ABCA1 in Epigenomics, MapViewer

    Chromosome 9 - NC_000009.11Genomic Context describing neighboring genes Neighboring gene nipsnap homolog 3B (C. elegans) Neighboring gene FP944 Neighboring gene solute carrier family 44, member 1 Neighboring gene fibronectin type III and SPRY domain containing 1-like Neighboring gene Ral GTPase activating protein, alpha subunit 1 (catalytic) pseudogene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    NHGRI GWAS Catalog

    show more
    Protein Gene Interaction Pubs
    Nef, p27 nef Inhibition of ABCA1 stimulates HIV-1 Nef-dependent formation of lipid rafts. HIV-1 infectivity negatively correlates with ABCA1 expression in host cell PubMed
    nef Physical interaction between HIV-1 Nef and ABCA1 depends on Nef myristoylation and involves residues 2225-2231 of ABCA1 PubMed
    nef HIV-1 Nef interacts with ABCA1 and induces downregulation and redistribution of ABCA1 to the plasma membrane PubMed

    Go to the HIV-1, Human Protein Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description
    O95477 P02647 APOA1    HPRD  PubMed  
    O95477 O15085 ARHGEF11    HPRD  PubMed  
    O95477 Q9NZN5 ARHGEF12    HPRD  PubMed  
    O95477 P68400 CSNK2A1    HPRD  PubMed  
    O95477 Q15700 DLG2    HPRD  PubMed  
    O95477 Q92796 DLG3    HPRD  PubMed  
    O95477 Q8TDM6 DLG5    HPRD  PubMed  
    O95477 Q13158 FADD    HPRD  PubMed  
    O95477 Q9HD26 GOPC    HPRD  PubMed  
    O95477 P53667 LIMK1    HPRD  PubMed  
    O95477 O14910 LIN7A    HPRD  PubMed  
    O95477 Q9HAP6 LIN7B    HPRD  PubMed  
    O95477 Q9NUP9 LIN7C    HPRD  PubMed  
    O95477 Q8WWI1 LMO7    HPRD  PubMed  
    O95477 O75970 MPDZ    HPRD  PubMed  
    O95477 Q9NZW5 MPP6    HPRD  PubMed  
    O95477 Q53GG5 PDLIM3    HPRD  PubMed  
    O95477 P50479 PDLIM4    HPRD  PubMed  
    O95477 Q5T2W1 PDZK1    HPRD  PubMed  
    O95477 P55058 PLTP    HPRD  PubMed  
    O95477 P17612 PRKACA    HPRD  PubMed  
    O95477 Q8TEU7 RAPGEF6    HPRD  PubMed  
    O95477 Q9UQ26 RIMS2    HPRD  PubMed  
    O95477 Q9Y566 SHANK1    HPRD  PubMed  
    O95477 Q13424 SNTA1    HPRD  PubMed  
    O95477 Q13884 SNTB1    HPRD  PubMed  
    O95477 Q13425 SNTB2    HPRD  PubMed  
    O95477 O15269 SPTLC1    HPRD  PubMed  
    O95477 Q13009 TIAM1    HPRD  PubMed  
    BioGRID:106537 BioGRID:106813 AOX1    BioGRID  PubMed Two-hybrid 
    BioGRID:106537 BioGRID:106832 APOA1    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106537 BioGRID:117343 ATXN10    BioGRID  PubMed Two-hybrid 
    BioGRID:106537 BioGRID:107433 CDC42    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:114729 COPS2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:107777 CREBBP    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:107842 CSNK2A2    BioGRID  PubMed Biochemical Activity 
    BioGRID:106537 BioGRID:120997 ERBB2IP    BioGRID  PubMed Protein-peptide 
    BioGRID:106537 BioGRID:114302 FADD    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:106537 BioGRID:115506 FLOT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:114593 HGS    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:114089 IKBKG    BioGRID  PubMed Two-hybrid 
    BioGRID:106537 BioGRID:124219 LNX1    BioGRID  PubMed Biochemical Activity 
    BioGRID:106537 BioGRID:115842 PRPF8    BioGRID  PubMed Two-hybrid 
    BioGRID:106537 BioGRID:112291 SDHB    BioGRID  PubMed Two-hybrid 
    BioGRID:106537 BioGRID:112528 SNTB2    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:106537 BioGRID:115809 SPTLC1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:117191 STX12    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:112910 TGM2    BioGRID  PubMed Two-hybrid 
    BioGRID:106537 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106537 BioGRID:113206 UGP2    BioGRID  PubMed Two-hybrid 
    BioGRID:106537 BioGRID:113345 XPC    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    • ABC transporters, organism-specific biosystem (from KEGG)
      ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • ABC transporters, conserved biosystem (from KEGG)
      ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
    • Fat digestion and absorption, organism-specific biosystem (from KEGG)
      Fat digestion and absorption, organism-specific biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Fat digestion and absorption, conserved biosystem (from KEGG)
      Fat digestion and absorption, conserved biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
      Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
    • Folate Metabolism, organism-specific biosystem (from WikiPathways)
      Folate Metabolism, organism-specific biosystem
      Folate Metabolism
    • HDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      HDL-mediated lipid transport, organism-specific biosystemHDL particles play a central role in the reverse transport of cholesterol, the process by which cholesterol in tissues other than the liver is returned to the liver for conversion to bile salts and e...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystem (from WikiPathways)
      Nuclear receptors in lipid metabolism and toxicity, organism-specific biosystemNuclear receptors are transcription factors that are activated upon binding to its ligands. Initially, they had been classified as classic endocrine nuclear hormone receptors and orphan receptors. Ho...
    • PPARA Activates Gene Expression, organism-specific biosystem (from REACTOME)
      PPARA Activates Gene Expression, organism-specific biosystemThe set of genes regulated by PPAR-alpha is not fully known in humans, however many examples have been found in mice. Genes directly activated by PPAR-alpha contain peroxisome proliferator receptor e...
    • RXR and RAR heterodimerization with other nuclear receptor, organism-specific biosystem (from Pathway Interaction Database)
      RXR and RAR heterodimerization with other nuclear receptor, organism-specific biosystem
      RXR and RAR heterodimerization with other nuclear receptor
    • Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystem (from REACTOME)
      Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha), organism-specific biosystemPeroxisome proliferator-activated receptor alpha (PPAR-alpha) is the major regulator of fatty acid oxidation in the liver. PPARalpha is also the target of fibrate drugs used to treat abnormal plasma ...
    • SREBF and miR33 in cholesterol and lipid homeostasis, organism-specific biosystem (from WikiPathways)
      SREBF and miR33 in cholesterol and lipid homeostasis, organism-specific biosystemThis pathway describes transcription factor-microRNA circuits governing cholesterol and lipid homeostasis. It is based on a seminar by Dr. Anders N??r.
    • Selenium Pathway, organism-specific biosystem (from WikiPathways)
      Selenium Pathway, organism-specific biosystem
      Selenium Pathway
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...

    Markers

    Homology

    Clone Names

    • FLJ14958, MGC164864, MGC165011

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    anion transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apolipoprotein A-I binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    apolipoprotein A-I receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apolipoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    cholesterol binding IC
    Inferred by Curator
    more info
    PubMed 
    cholesterol transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipid binding IC
    Inferred by Curator
    more info
    PubMed 
    phospholipid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    small GTPase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    syntaxin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    G-protein coupled receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    apolipoprotein A-I-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    cellular response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to retinoic acid IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cholesterol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosomal transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    high-density lipoprotein particle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interleukin-1 beta secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    lipoprotein metabolic process TAS
    Traceable Author Statement
    more info
     
    lysosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cholesterol storage TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of macrophage derived foam cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    peptide secretion IEA
    Inferred from Electronic Annotation
    more info
     
    phagocytosis, engulfment IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phospholipid efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipid homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipid translocation IEA
    Inferred from Electronic Annotation
    more info
     
    platelet dense granule organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cAMP biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cholesterol efflux IEA
    Inferred from Electronic Annotation
    more info
     
    protein lipidation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of Cdc42 protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to laminar fluid shear stress IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    response to low-density lipoprotein particle stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    reverse cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    Golgi apparatus IEA
    Inferred from Electronic Annotation
    more info
     
    endocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    ATP-binding cassette sub-family A member 1
    Names
    ATP-binding cassette sub-family A member 1
    membrane-bound
    ATP-binding cassette transporter A1
    cholesterol efflux regulatory protein

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007981.1 RefSeqGene

      Range
      4910..152154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005502.3NP_005493.2  ATP-binding cassette sub-family A member 1

      Status: REVIEWED

      Source sequence(s)
      AB445477, AL359846, BC146856, BU753834, BX955241
      Consensus CDS
      CCDS6762.1
      UniProtKB/TrEMBL
      B2RUU2
      UniProtKB/TrEMBL
      B7XCW9
      UniProtKB/Swiss-Prot
      O95477
      Related
      ENSP00000363868, OTTHUMP00000021833, ENST00000374736, OTTHUMT00000053491
      Conserved Domains (2) summary
      cd03263
      Location:19122132
      Blast Score: 846
      ABC_subfamily_A; The ABCA subfamily mediates the transport of a variety of lipid compounds. Mutations of members of ABCA subfamily are associated with human genetic diseases, such as, familial high-density lipoprotein (HDL) deficiency, neonatal surfactant deficiency, ...
      TIGR01257
      Location:62221
      Blast Score: 5963
      rim_protein; retinal-specific rim ABC transporter

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000009.11 Reference GRCh37.p10 Primary Assembly

      Range
      107543283..107690527, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000141.1 Alternate HuRef

      Range
      77145450..77292489, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018920.1 Alternate CHM1_1.0

      Range
      107556413..107703681, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

      Supplemental Content

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