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    ABCA4 ATP binding cassette subfamily A member 4 [ Homo sapiens (human) ]

    Gene ID: 24, updated on 20-Apr-2017
    Official Symbol
    ABCA4provided by HGNC
    Official Full Name
    ATP binding cassette subfamily A member 4provided by HGNC
    Primary source
    HGNC:HGNC:34
    See related
    Ensembl:ENSG00000198691 MIM:601691; Vega:OTTHUMG00000010622
    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
    FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1
    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 is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, indicating the gene product mediates transport of an essental molecule across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    1p22.1
    Exon count:
    50
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (93992837..94121149, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94458393..94586705, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene mitochondrially encoded cytochrome c oxidase II pseudogene 21 Neighboring gene mitochondrially encoded cytochrome c oxidase I pseudogene 21 Neighboring gene uncharacterized LOC105378858 Neighboring gene RNA, 7SL, cytoplasmic 440, pseudogene Neighboring gene Rho GTPase activating protein 29 Neighboring gene uncharacterized LOC107985092

    • 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?

    Associated conditions

    Description Tests
    Age-related macular degeneration 2
    MedGen: C3495438 OMIM: 153800 GeneReviews: Not available
    Compare labs
    Cone-rod dystrophy 3
    MedGen: C1858806 OMIM: 604116 GeneReviews: Not available
    Compare labs
    Retinitis pigmentosa 19 Compare labs
    Stargardt disease 1
    MedGen: C1855465 OMIM: 248200 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    NHGRI GWA Catalog
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    NHGRI GWA Catalog
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    NHGRI GWA Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    NHGRI GWA Catalog
    • 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-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...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
      The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ17534, DKFZp781N1972

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATPase activity, coupled to transmembrane movement of substances TAS
    Traceable Author Statement
    more info
    PubMed 
    eye pigment precursor transporter activity TAS
    Traceable Author Statement
    more info
     
    phosphatidylethanolamine-translocating ATPase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    phospholipid transfer to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    phototransduction, visible light TAS
    Traceable Author Statement
    more info
    PubMed 
    retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    transport TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    integral component of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    retinal-specific ATP-binding cassette transporter
    Names
    ATP binding cassette transporter
    ATP-binding cassette sub-family A member 4
    ATP-binding cassette transporter, retinal-specific
    ATP-binding cassette, sub-family A (ABC1), member 4
    ATP-binding transporter, retina-specific
    RIM ABC transporter
    RIM protein
    photoreceptor rim protein
    retina-specific ABC transporter
    stargardt disease protein

    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_009073.1 RefSeqGene

      Range
      5001..133313
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000350.2NP_000341.2  retinal-specific ATP-binding cassette transporter

      See identical proteins and their annotated locations for NP_000341.2

      Status: REVIEWED

      Source sequence(s)
      AB210040, AF000148, AF001945, AL712362, BM686882, CR627391
      Consensus CDS
      CCDS747.1
      UniProtKB/Swiss-Prot
      P78363
      UniProtKB/TrEMBL
      Q6AI28
      Related
      ENSP00000359245.3, OTTHUMP00000012366, ENST00000370225.3, OTTHUMT00000029320
      Conserved Domains (2) summary
      TIGR01257
      Location:12272
      rim_protein; retinal-specific rim ABC transporter
      cd03263
      Location:19382158
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

    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_000001.11 Reference GRCh38.p7 Primary Assembly

      Range
      93992837..94121149 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      94573360..94701680 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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