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    Abca1 ATP-binding cassette, sub-family A (ABC1), member 1 [ Mus musculus (house mouse) ]

    Gene ID: 11303, updated on 26-Jul-2021

    Summary

    Official Symbol
    Abca1provided by MGI
    Official Full Name
    ATP-binding cassette, sub-family A (ABC1), member 1provided by MGI
    Primary source
    MGI:MGI:99607
    See related
    Ensembl:ENSMUSG00000015243
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    ABC; Abc1; ABC-1
    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. In humans, this protein functions as a cholesterol efflux pump in the cellular lipid removal pathway. Mutations in the human gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in ovary adult (RPKM 16.1), subcutaneous fat pad adult (RPKM 14.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Abca1 in Genome Data Viewer
    Location:
    4 B2; 4 28.57 cM
    Exon count:
    51
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (53030789..53159988, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (53030789..53159988, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 4 NC_000070.5 (53043661..53172767, complement)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene nipsnap homolog 3A Neighboring gene nipsnap homolog 3B Neighboring gene predicted gene, 54225 Neighboring gene lipid responsive LXR-induced inhibitor of cholesterol synthesis 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATPase-coupled intramembrane lipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables ATPase-coupled transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables apolipoprotein A-I binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables apolipoprotein A-I receptor activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables apolipoprotein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables cholesterol transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables cholesterol transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables cholesterol transfer activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables floppase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables high-density lipoprotein particle binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylcholine binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylcholine floppase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylcholine floppase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phosphatidylserine floppase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables phosphatidylserine floppase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables phospholipid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables phospholipid transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables small GTPase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sphingolipid floppase activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables syntaxin binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in adenylate cyclase-activating G protein-coupled receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in cellular response to high density lipoprotein particle stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to lipopolysaccharide IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to retinoic acid IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cholesterol metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cholesterol metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in endosomal transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in export across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in high-density lipoprotein particle assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within lipoprotein biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lipoprotein biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lipoprotein metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in lysosome organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within peptide secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within phagocytosis, engulfment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within phospholipid efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within phospholipid efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid efflux ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within phospholipid translocation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in phospholipid translocation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in platelet dense granule organization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cholesterol efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of high-density lipoprotein particle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein lipidation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein secretion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein secretion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of Cdc42 protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to laminar fluid shear stress ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in reverse cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in reverse cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in signal release IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal release ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endocytic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in endosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in external side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane raft ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in phagocytic vesicle ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    phospholipid-transporting ATPase ABCA1
    Names
    ATP-binding cassette 1
    ATP-binding cassette sub-family A member 1
    ATP-binding cassette transporter 1
    NP_038482.3
    XP_006537617.1
    XP_006537619.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_013454.3NP_038482.3  phospholipid-transporting ATPase ABCA1

      See identical proteins and their annotated locations for NP_038482.3

      Status: VALIDATED

      Source sequence(s)
      AK019548, AK045442, AK051920, AL772397, AL807243, BP761367, CD351490, CD351847, CF734665, CF745062, CN702062
      Consensus CDS
      CCDS18187.1
      UniProtKB/Swiss-Prot
      P41233
      UniProtKB/TrEMBL
      Q8BPY1
      Related
      ENSMUSP00000030010.4, ENSMUST00000030010.4
      Conserved Domains (1) summary
      TIGR01257
      Location:62236
      rim_protein; retinal-specific rim ABC transporter

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000070.7 Reference GRCm39 C57BL/6J

      Range
      53030789..53159988 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006537556.1XP_006537619.1  phospholipid-transporting ATPase ABCA1 isoform X2

      Conserved Domains (1) summary
      TIGR01257
      Location:62213
      rim_protein; retinal-specific rim ABC transporter
    2. XM_006537554.2XP_006537617.1  phospholipid-transporting ATPase ABCA1 isoform X1

      See identical proteins and their annotated locations for XP_006537617.1

      Conserved Domains (1) summary
      TIGR01257
      Location:62238
      rim_protein; retinal-specific rim ABC transporter
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