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    Abcg5 ATP binding cassette subfamily G member 5 [ Mus musculus (house mouse) ]

    Gene ID: 27409, updated on 9-Dec-2024

    Summary

    Official Symbol
    Abcg5provided by MGI
    Official Full Name
    ATP binding cassette subfamily G member 5provided by MGI
    Primary source
    MGI:MGI:1351659
    See related
    Ensembl:ENSMUSG00000040505 AllianceGenome:MGI:1351659
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    cmp; trac; sterolin-1
    Summary
    The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily, and functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. Disruption of this gene in mice results in thrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, shortened life span and cardiomyopathy. Mice lacking this gene show symptoms of sitosterolemia. [provided by RefSeq, Nov 2015]
    Expression
    Biased expression in duodenum adult (RPKM 83.5), large intestine adult (RPKM 69.9) and 2 other tissues See more
    Orthologs
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    Genomic context

    See Abcg5 in Genome Data Viewer
    Location:
    17 E4; 17 55.02 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (84965602..84990439, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (84658174..84683011, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene dynein cytoplasmic 2 light intermediate chain 1 Neighboring gene predicted gene, 26066 Neighboring gene ATP binding cassette subfamily G member 8 Neighboring gene leucine-rich PPR-motif containing Neighboring gene STARR-seq mESC enhancer starr_43448 Neighboring gene STARR-seq mESC enhancer starr_43449 Neighboring gene STARR-positive B cell enhancer ABC_E3219 Neighboring gene predicted gene, 53965

    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

    Clone Names

    • MGC123400

    Gene Ontology Provided by MGI

    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
     
    contributes_to ATP binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to ATP hydrolysis activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATPase-coupled transmembrane transporter activity ISO
    Inferred from Sequence Orthology
    more info
     
    contributes_to cholesterol transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to cholesterol transfer activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein heterodimerization activity ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in cholesterol efflux IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intestinal cholesterol absorption IC
    Inferred by Curator
    more info
    PubMed 
    involved_in negative regulation of intestinal cholesterol absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of intestinal cholesterol absorption ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of intestinal phytosterol absorption IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of intestinal phytosterol absorption ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to muscle activity IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to nutrient IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of ATP-binding cassette (ABC) transporter complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of ATP-binding cassette (ABC) transporter complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of ATP-binding cassette (ABC) transporter complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in apical part of cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in apical plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in apical plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of receptor complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    ATP-binding cassette sub-family G member 5
    Names
    ATP-binding cassette, sub-family G (WHITE), member 5
    sterolin 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_031884.2NP_114090.1  ATP-binding cassette sub-family G member 5

      See identical proteins and their annotated locations for NP_114090.1

      Status: REVIEWED

      Source sequence(s)
      AF312713, BB798401
      Consensus CDS
      CCDS29001.1
      UniProtKB/Swiss-Prot
      Q540E8, Q99PE8
      UniProtKB/TrEMBL
      Q7TSR8
      Related
      ENSMUSP00000069495.4, ENSMUST00000066175.10
      Conserved Domains (3) summary
      cd03234
      Location:50276
      ABCG_White; White pigment protein homolog of ABCG transporter subfamily
      TIGR00955
      Location:61646
      3a01204; The Eye Pigment Precursor Transporter (EPP) Family protein
      pfam01061
      Location:372579
      ABC2_membrane; ABC-2 type 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_000083.7 Reference GRCm39 C57BL/6J

      Range
      84965602..84990439 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)