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    Abca8a ATP-binding cassette, sub-family A member 8a [ Mus musculus (house mouse) ]

    Gene ID: 217258, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Abca8aprovided by MGI
    Official Full Name
    ATP-binding cassette, sub-family A member 8aprovided by MGI
    Primary source
    MGI:MGI:2386846
    See related
    Ensembl:ENSMUSG00000041828 AllianceGenome:MGI:2386846
    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
    Summary
    Predicted to enable ABC-type xenobiotic transporter activity and lipid transporter activity. Predicted to be involved in several processes, including cholesterol efflux; positive regulation of cholesterol efflux; and sphingomyelin biosynthetic process. Predicted to be located in basolateral plasma membrane and endoplasmic reticulum. Predicted to be active in intracellular membrane-bounded organelle. Is expressed in telencephalon. Orthologous to human ABCA8 (ATP binding cassette subfamily A member 8). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in liver E18 (RPKM 13.1), bladder adult (RPKM 9.6) and 13 other tissues See more
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    Genomic context

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    See Abca8a in Genome Data Viewer
    Location:
    11 E1; 11 73.07 cM
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (109916460..109988403, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (110025634..110097580, complement)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39444 Neighboring gene ATP-binding cassette, sub-family A member 8b Neighboring gene STARR-seq mESC enhancer starr_31033 Neighboring gene ATP-binding cassette, sub-family A member 9 Neighboring gene ATP-binding cassette, sub-family A member 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels. Trigueros-Motos L, et al. Arterioscler Thromb Vasc Biol, 2017 Nov. PMID 28882873
    2. Molecular cloning of a mouse scavenger receptor with C-type lectin (SRCL)(1), a novel member of the scavenger receptor family. Nakamura K, et al. Biochim Biophys Acta, 2001 Nov 11. PMID 11718900
    3. Acute digoxin loading reduces ABCA8A mRNA expression in the mouse liver. Wakaumi M, et al. Clin Exp Pharmacol Physiol, 2005 Dec. PMID 16445568
    4. Evolutionary analysis of a cluster of ATP-binding cassette (ABC) genes. Annilo T, et al. Mamm Genome, 2003 Jan. PMID 12532264
    5. Decreased expression levels of Ifi genes is associated to the increased resistance to spontaneous arthritis disease in mice deficiency of IL-1RA. Liu X, et al. BMC Immunol, 2016 Aug 2. PMID 27480124, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ABCA8 facilitates cholesterol efflux and modulates HDL-cholesterol levels.
      Title: ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ABC-type transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ABC-type transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ABC-type xenobiotic transporter activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ABC-type xenobiotic transporter activity ISS
    Inferred from Sequence or Structural Similarity
    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 lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cholesterol transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cholesterol transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in positive regulation of cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of cholesterol efflux ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of cholesterol efflux ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in sphingomyelin biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in sphingomyelin biosynthetic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in xenobiotic transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in xenobiotic transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in basolateral plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    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
    		  
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    ABC-type organic anion transporter ABCA8A
    Names
    ATP-binding cassette sub-family A member 8-A
    ATP-binding cassette, sub-family A (ABC1), member 8a

    NCBI Reference Sequences (RefSeq)

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    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_001405146.1 → NP_001392075.1  ABC-type organic anion transporter ABCA8A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL603792, AL662821

    2. NM_001405147.1 → NP_001392076.1  ABC-type organic anion transporter ABCA8A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL603792, AL662821

    3. NM_001405148.1 → NP_001392077.1  ABC-type organic anion transporter ABCA8A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL603792, AL662821
      Related
      ENSMUSP00000097860.3, ENSMUST00000100287.9

    4. NM_001405149.1 → NP_001392078.1  ABC-type organic anion transporter ABCA8A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL603792, AL662821

    5. NM_001405150.1 → NP_001392079.1  ABC-type organic anion transporter ABCA8A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL603792, AL662821

    6. NM_153145.5 → NP_694785.3  ABC-type organic anion transporter ABCA8A isoform 1

      See identical proteins and their annotated locations for NP_694785.3

      Status: VALIDATED

      Source sequence(s)
      AL603792, AL662821
      Consensus CDS
      CCDS48974.1
      UniProtKB/TrEMBL
      A4PBQ7
      Conserved Domains (1) summary
      TIGR01257
      Location:224 → 1596
      rim_protein; retinal-specific rim ABC transporter

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      109916460..109988403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006533061.3 → XP_006533124.3  ABC-type organic anion transporter ABCA8A isoform X1

      UniProtKB/TrEMBL
      A4PBQ7
      Conserved Domains (1) summary
      TIGR01257
      Location:258 → 1630
      rim_protein; retinal-specific rim ABC transporter
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K442.2 GenPept UniProtKB/Swiss-Prot:Q8K442

    Gene LinkOut

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