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    Abca12 ATP binding cassette subfamily A member 12 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 301482, updated on 2-Nov-2024

    Summary

    Official Symbol
    Abca12provided by RGD
    Official Full Name
    ATP binding cassette subfamily A member 12provided by RGD
    Primary source
    RGD:1304586
    See related
    EnsemblRapid:ENSRNOG00000015248 AllianceGenome:RGD:1304586
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to enable ATPase-coupled transmembrane transporter activity; apolipoprotein A-I receptor binding activity; and lipid transporter activity. Predicted to be involved in several processes, including corneocyte desquamation; phospholipid efflux; and positive regulation of intracellular lipid transport. Predicted to act upstream of or within several processes, including establishment of skin barrier; positive regulation of cholesterol efflux; and positive regulation of protein localization to cell surface. Predicted to be located in bounding membrane of organelle; cytosol; and plasma membrane. Predicted to be active in intracellular membrane-bounded organelle. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1; autosomal recessive congenital ichthyosis 4A; and autosomal recessive congenital ichthyosis 4B. Orthologous to human ABCA12 (ATP binding cassette subfamily A member 12). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Testes (RPKM 16.4), Lung (RPKM 7.8) and 2 other tissues See more
    Orthologs
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    Genomic context

    See Abca12 in Genome Data Viewer
    Location:
    9q33
    Exon count:
    54
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 9 NC_086027.1 (80272121..80445340, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 9 NC_051344.1 (72822661..72995748, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 9 NC_005108.4 (78521477..78693421, complement)

    Chromosome 9 - NC_086027.1Genomic Context describing neighboring genes Neighboring gene von Willebrand factor C domain containing 2 like Neighboring gene uncharacterized LOC120094698 Neighboring gene BRCA1 associated RING domain 1 Neighboring gene uncharacterized LOC134480587 Neighboring gene 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ABC-type transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables apolipoprotein A-I receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables apolipoprotein A-I receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lipid transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables signaling receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in ceramide metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within ceramide transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ceramide transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in corneocyte desquamation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of establishment of localization in cell ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within establishment of skin barrier ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in establishment of skin barrier ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within keratinization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within keratinocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lipid homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in lipid transport ISO
    Inferred from Sequence Orthology
    more info
     
    NOT acts_upstream_of_or_within lung alveolus development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within lung alveolus development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in phospholipid efflux ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of intracellular lipid transport ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of protein localization to cell surface ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulated exocytosis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of insulin secretion involved in cellular response to glucose stimulus ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of keratinocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in secretion by cell ISO
    Inferred from Sequence Orthology
    more info
     
    NOT involved_in skin morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    NOT acts_upstream_of_or_within surfactant homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within surfactant homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in epidermal lamellar body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in epidermal lamellar body membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    glucosylceramide transporter ABCA12
    Names
    ATP-binding cassette sub-family A member 12
    ATP-binding cassette, sub-family A (ABC1), member 12
    ATP-binding cassette, subfamily A (ABC1), member 12
    NP_001414620.1
    XP_038940558.1
    XP_038940559.1

    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_001427691.1NP_001414620.1  glucosylceramide transporter ABCA12

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000009
      UniProtKB/TrEMBL
      D4A7J3
      Related
      ENSRNOP00000054481.5, ENSRNOT00000057672.7

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086027.1 Reference GRCr8

      Range
      80272121..80445340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039084631.2XP_038940559.1  glucosylceramide transporter ABCA12 isoform X2

      UniProtKB/TrEMBL
      A6KFG0
      Conserved Domains (1) summary
      TIGR01257
      Location:11473
      rim_protein; retinal-specific rim ABC transporter
    2. XM_039084630.2XP_038940558.1  glucosylceramide transporter ABCA12 isoform X1

      UniProtKB/TrEMBL
      A6KFG0
      Conserved Domains (1) summary
      TIGR01257
      Location:131493
      rim_protein; retinal-specific rim ABC transporter