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    ABCA12 ATP binding cassette subfamily A member 12 [ Homo sapiens (human) ]

    Gene ID: 26154, updated on 2-Jul-2017
    Official Symbol
    ABCA12provided by HGNC
    Official Full Name
    ATP binding cassette subfamily A member 12provided by HGNC
    Primary source
    HGNC:HGNC:14637
    See related
    Ensembl:ENSG00000144452 MIM:607800; Vega:OTTHUMG00000154801
    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
    LI2; ICR2B; ARCI4A; ARCI4B
    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, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2q35
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (214931542..215138591, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (215796266..216003151, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene BRCA1 associated RING domain 1 Neighboring gene uncharacterized LOC101928103 Neighboring gene ribosomal protein L10 pseudogene 6 Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Neighboring gene fibronectin 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    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...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules

    Markers

    Homology

    Clone Names

    • FLJ41584, DKFZp434G232

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    apolipoprotein A-I receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    lipid transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid transporter activity TAS
    Traceable Author Statement
    more info
     
    lipid-transporting ATPase activity IC
    Inferred by Curator
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular homeostasis NAS
    Non-traceable Author Statement
    more info
    PubMed 
    ceramide transport IEA
    Inferred from Electronic Annotation
    more info
     
    establishment of skin barrier IEA
    Inferred from Electronic Annotation
    more info
     
    keratinization IEA
    Inferred from Electronic Annotation
    more info
     
    lipid homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    lipid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lung alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid efflux IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cholesterol efflux IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein localization to cell surface IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization to plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulated exocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    secretion by cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    surfactant homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal lamellar body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane 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 12
    Names
    ATP-binding cassette transporter 12
    ATP-binding cassette, sub-family A (ABC1), member 12

    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_007074.1 RefSeqGene

      Range
      5001..211886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015657.3NP_056472.2  ATP-binding cassette sub-family A member 12 isoform b

      See identical proteins and their annotated locations for NP_056472.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and 5' coding region, compared to transcript variant 1. This results in a protein (isoform b) containing a shorter and distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AC072062, AF418105, AK096597, AK123578, AY033486, AY219711
      Consensus CDS
      CCDS33373.1
      UniProtKB/Swiss-Prot
      Q86UK0
      UniProtKB/TrEMBL
      B3KVV3
      Related
      ENSP00000374312.4, OTTHUMP00000206681, ENST00000389661.4, OTTHUMT00000337109
      Conserved Domains (4) summary
      cd03263
      Location:19362159
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1121
      Location:10281252
      ZnuC; ABC-type Mn2+/Zn2+ transport system, ATPase component [Inorganic ion transport and metabolism]
      COG1131
      Location:19412249
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:15951856
      ABC2_membrane_3; ABC-2 family transporter protein
    2. NM_173076.2NP_775099.2  ATP-binding cassette sub-family A member 12 isoform a

      See identical proteins and their annotated locations for NP_775099.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC072062, AF418105, AK096597, AK123578, AY219711, BC144073
      Consensus CDS
      CCDS33372.1
      UniProtKB/Swiss-Prot
      Q86UK0
      UniProtKB/TrEMBL
      B3KVV3
      Related
      ENSP00000272895.7, OTTHUMP00000206683, ENST00000272895.11, OTTHUMT00000337111
      Conserved Domains (4) summary
      cd03263
      Location:22542477
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1121
      Location:13461570
      ZnuC; ABC-type Mn2+/Zn2+ transport system, ATPase component [Inorganic ion transport and metabolism]
      COG1131
      Location:22592567
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:19132174
      ABC2_membrane_3; ABC-2 family transporter protein

    RNA

    1. NR_103740.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has two additional internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC072062, AK096597, AK123578, AY219711, BC144073

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      214931542..215138591 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510951.2XP_011509253.1  ATP-binding cassette sub-family A member 12 isoform X1

      Conserved Domains (4) summary
      cd03263
      Location:22572480
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1121
      Location:13491573
      ZnuC; ABC-type Mn2+/Zn2+ transport system, ATPase component [Inorganic ion transport and metabolism]
      COG1131
      Location:22622570
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:19162177
      ABC2_membrane_3; ABC-2 family transporter protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      215801932..216008974 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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