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    Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 [ Mus musculus (house mouse) ]

    Gene ID: 11304, updated on 23-Oct-2018

    Summary

    Official Symbol
    Abca4provided by MGI
    Official Full Name
    ATP-binding cassette, sub-family A (ABC1), member 4provided by MGI
    Primary source
    MGI:MGI:109424
    See related
    Ensembl:ENSMUSG00000028125 Vega:OTTMUSG00000029911
    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
    RmP; Abcr; Abc10; AW050280; D430003I15Rik
    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. This protein was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in kidney adult (RPKM 1.4), ovary adult (RPKM 1.3) and 20 other tissues See more
    Orthologs

    Genomic context

    See Abca4 in Genome Data Viewer
    Location:
    3 G1; 3 52.94 cM
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (122043891..122180070)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (121747378..121882979)

    Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 34119 Neighboring gene predicted gene, 46821 Neighboring gene Rho GTPase activating protein 29 Neighboring gene predicted gene, 40138 Neighboring gene lysine (K)-specific demethylase 4D pseudogene Neighboring gene predicted gene, 46822 Neighboring gene predicted gene, 40137

    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 FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from BioSystems

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    ATPase activity, coupled to transmembrane movement of substances IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances TAS
    Traceable Author Statement
    more info
    PubMed 
    lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphatidylethanolamine-translocating ATPase activity ISO
    Inferred from Sequence Orthology
    more info
     
    phospholipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phospholipid transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipid-translocating ATPase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phospholipid-translocating ATPase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Process Evidence Code Pubs
    lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    phospholipid transfer to membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipid translocation ISO
    Inferred from Sequence Orthology
    more info
     
    photoreceptor cell maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    membrane IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor outer segment IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    retinal-specific ATP-binding cassette transporter
    Names
    ATP-binding cassette 10
    ATP-binding cassette sub-family A member 4
    RIM ABC transporter
    Rim protein

    NCBI Reference Sequences (RefSeq)

    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_007378.1NP_031404.1  retinal-specific ATP-binding cassette transporter

      See identical proteins and their annotated locations for NP_031404.1

      Status: REVIEWED

      Source sequence(s)
      AF000149
      Consensus CDS
      CCDS38617.1
      UniProtKB/Swiss-Prot
      O35600
      Related
      ENSMUSP00000013995.8, OTTMUSP00000038539, ENSMUST00000013995.12, OTTMUST00000074208
      Conserved Domains (2) summary
      TIGR01257
      Location:12271
      rim_protein; retinal-specific rim ABC transporter
      cd03263
      Location:19372157
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

      Range
      122043891..122180070
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017319439.1XP_017174928.1  retinal-specific ATP-binding cassette transporter isoform X1

      Conserved Domains (2) summary
      TIGR01257
      Location:12211
      rim_protein; retinal-specific rim ABC transporter
      cd03263
      Location:18772097
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
    2. XM_006500912.2XP_006500975.1  retinal-specific ATP-binding cassette transporter isoform X3

      Conserved Domains (3) summary
      TIGR01188
      Location:9441277
      drrA; daunorubicin resistance ABC transporter ATP-binding subunit
      cd03263
      Location:9291148
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      pfam12698
      Location:16031817
      ABC2_membrane_3; ABC-2 family transporter protein
    3. XM_006500914.2XP_006500977.1  retinal-specific ATP-binding cassette transporter isoform X5

      Conserved Domains (3) summary
      TIGR01188
      Location:9441277
      drrA; daunorubicin resistance ABC transporter ATP-binding subunit
      cd03263
      Location:9291148
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      pfam12698
      Location:609856
      ABC2_membrane_3; ABC-2 family transporter protein
    4. XM_006500911.3XP_006500974.1  retinal-specific ATP-binding cassette transporter isoform X2

      Conserved Domains (4) summary
      TIGR01188
      Location:661994
      drrA; daunorubicin resistance ABC transporter ATP-binding subunit
      cd03263
      Location:16541874
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
      COG1131
      Location:16531935
      CcmA; ABC-type multidrug transport system, ATPase component [Defense mechanisms]
      pfam12698
      Location:13201611
      ABC2_membrane_3; ABC-2 family transporter protein
    5. XM_017319440.1XP_017174929.1  retinal-specific ATP-binding cassette transporter isoform X4

    RNA

    1. XR_375477.2 RNA Sequence

    2. XR_375478.2 RNA Sequence

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