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    ABCA3 ATP binding cassette subfamily A member 3 [ Homo sapiens (human) ]

    Gene ID: 21, updated on 3-Jul-2016
    Official Symbol
    ABCA3provided by HGNC
    Official Full Name
    ATP binding cassette subfamily A member 3provided by HGNC
    Primary source
    HGNC:HGNC:33
    See related
    Ensembl:ENSG00000167972 HPRD:03369; MIM:601615; Vega:OTTHUMG00000128845
    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
    ABC3; ABC-C; SMDP3; LBM180; EST111653
    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. The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    16p13.3
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 16 NC_000016.10 (2275878..2340746, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2325879..2390747, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC106660606 Neighboring gene microRNA 940 Neighboring gene microRNA 4717 Neighboring gene ribosomal protein S16 pseudogene 7 Neighboring gene ATP binding cassette subfamily A member 17, pseudogene Neighboring gene cyclin F Neighboring gene microRNA 6767

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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 ...
    • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
      ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
    • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
      ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Surfactant metabolism, organism-specific biosystem (from REACTOME)
      Surfactant metabolism, organism-specific biosystemThe alveolar region of the lung creates an extensive epithelial surface that mediates the transfer of oxygen and carbon dioxide required for respiration after birth. Type I epithelial cells form the ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC72201, MGC166979

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity, coupled to transmembrane movement of substances TAS
    Traceable Author Statement
    more info
    PubMed 
    lipid transporter activity TAS
    Traceable Author Statement
    more info
     
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to drug TAS
    Traceable Author Statement
    more info
    PubMed 
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    alveolar lamellar body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    alveolar lamellar body membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    lamellar body membrane TAS
    Traceable Author Statement
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    ATP-binding cassette sub-family A member 3
    Names
    ABC transporter 3
    ABC-C transporter
    ATP-binding cassette transporter 3
    ATP-binding cassette, sub-family A (ABC1), member 3

    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_011790.1 RefSeqGene

      Range
      5001..69869
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001089.2NP_001080.2  ATP-binding cassette sub-family A member 3

      See identical proteins and their annotated locations for NP_001080.2

      Status: REVIEWED

      Source sequence(s)
      AB210044, AC106820, BC020724, BP397501, DA109409, U78735
      Consensus CDS
      CCDS10466.1
      UniProtKB/Swiss-Prot
      Q99758
      UniProtKB/TrEMBL
      Q4LE27
      Related
      ENSP00000301732, OTTHUMP00000159065, ENST00000301732, OTTHUMT00000250784
      Conserved Domains (4) summary
      TIGR01188
      Location:13971692
      drrA; daunorubicin resistance ABC transporter ATP-binding subunit
      cd03263
      Location:530751
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1131
      Location:530839
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:10921268
      ABC2_membrane_3; ABC-2 family transporter protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p7 Primary Assembly

      Range
      2275878..2340746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018927.2 Alternate CHM1_1.1

      Range
      2325836..2390894 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)