U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

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

    Gene ID: 24, updated on 2-Mar-2024

    Summary

    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; AllianceGenome:HGNC:34
    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, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), 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, Sep 2019]
    Expression
    Biased expression in kidney (RPKM 2.3), small intestine (RPKM 0.8) and 6 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABCA4 in Genome Data Viewer
    Location:
    1p22.1
    Exon count:
    50
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (93992834..94121148, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (93841050..93969344, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (94458390..94586704, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MT-CO2 pseudogene 21 Neighboring gene MT-CO1 pseudogene 21 Neighboring gene Sharpr-MPRA regulatory region 9909 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94476867-94477366 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:94486302-94487501 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:94502188-94503387 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94509914-94510414 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:94533422-94534621 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:94534812-94535369 Neighboring gene uncharacterized LOC124904222 Neighboring gene Sharpr-MPRA regulatory region 14437 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:94558826-94559378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94566947-94567447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94572059-94572560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:94572561-94573060 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:94578796-94579778 Neighboring gene uncharacterized LOC105378858 Neighboring gene small nucleolar RNA U13 Neighboring gene RNA, 7SL, cytoplasmic 440, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
    Severe early-childhood-onset retinal dystrophy
    MedGen: C1855465 OMIM: 248200 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic predictors of fibrin D-dimer levels in healthy adults.
    EBI GWAS Catalog
    Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
    EBI GWAS 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
    EBI GWAS Catalog
    Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ17534, DKFZp781N1972

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 11-cis retinal binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP hydrolysis activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ATPase-coupled intramembrane lipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ATPase-coupled transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables N-retinylidene-phosphatidylethanolamine flippase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables all-trans retinal binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables flippase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phosphatidylethanolamine flippase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables phospholipid transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables retinoid binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables retinol transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    Process Evidence Code Pubs
    involved_in lipid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in phospholipid transfer to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phospholipid translocation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in photoreceptor cell maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in phototransduction, visible light TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in retinal metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in retinal metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retinoid metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in retinol transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in photoreceptor disc membrane TAS
    Traceable Author Statement
    more info
     
    located_in photoreceptor outer segment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in rod photoreceptor disc membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    retinal-specific phospholipid-transporting ATPase ABCA4
    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
    RIM proteinv
    photoreceptor rim protein
    retina-specific ABC transporter
    retinal-specific ATP-binding cassette transporter
    stargardt disease protein
    NP_000341.2
    XP_047272660.1
    XP_054191718.1

    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.

    Genomic

    1. NG_009073.2 RefSeqGene

      Range
      5000..133314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000350.3NP_000341.2  retinal-specific phospholipid-transporting ATPase ABCA4 isoform 1

      See identical proteins and their annotated locations for NP_000341.2

      Status: REVIEWED

      Source sequence(s)
      AC093579, AC105278
      Consensus CDS
      CCDS747.1
      UniProtKB/Swiss-Prot
      O15112, O60438, O60915, P78363, Q0QD48, Q4LE31
      Related
      ENSP00000359245.3, ENST00000370225.4
      Conserved Domains (1) summary
      TIGR01257
      Location:12272
      rim_protein; retinal-specific rim ABC transporter
    2. NM_001425324.1NP_001412253.1  retinal-specific phospholipid-transporting ATPase ABCA4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC093579, AC105278

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      93992834..94121148 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047416704.1XP_047272660.1  retinal-specific phospholipid-transporting ATPase ABCA4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      93841050..93969344 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335743.1XP_054191718.1  retinal-specific phospholipid-transporting ATPase ABCA4 isoform X1