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ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 [ Homo sapiens (human) ]

Gene ID: 24, updated on 12-May-2015
Official Symbol
ABCA4provided by HGNC
Official Full Name
ATP-binding cassette, sub-family A (ABC1), member 4provided by HGNC
Primary source
HGNC:HGNC:34
See related
Ensembl:ENSG00000198691; HPRD:03408; 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
See ABCA4 in MapViewer
Location:
1p22
Exon count:
50
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 coiled-coil-helix-coiled-coil-helix domain containing 2 pseudogene 5 Neighboring gene MT-ND4 pseudogene 11 Neighboring gene uncharacterized LOC105378858 Neighboring gene Rho GTPase activating protein 29

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Age-related macular degeneration 2
MedGen: CN031413 OMIM: 153800 GeneReviews: Not available
Compare labs
Cone-rod dystrophy 3
MedGen: C1858806 OMIM: 604116 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 19
MedGen: C1866422 OMIM: 601718 GeneReviews: Retinitis Pigmentosa Overview
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, coupled to transmembrane movement of substances IEA
Inferred from Electronic Annotation
more info
 
cholesterol transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
phospholipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
phospholipid-translocating ATPase activity IEA
Inferred from Electronic Annotation
more info
 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
more info
 
phospholipid efflux IBA
Inferred from Biological aspect of Ancestor
more info
 
phospholipid transfer to membrane IEA
Inferred from Electronic Annotation
more info
 
phospholipid translocation IEA
Inferred from Electronic Annotation
more info
 
photoreceptor cell maintenance IEA
Inferred from Electronic Annotation
more info
 
phototransduction, visible light TAS
Traceable Author Statement
more info
 
retinoid metabolic process TAS
Traceable Author Statement
more info
 
transmembrane transport IBA
Inferred from Biological aspect of Ancestor
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 IBA
Inferred from Biological aspect of Ancestor
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
retinal-specific ATP-binding cassette transporter
ATP binding cassette transporter
ATP-binding cassette sub-family A member 4
ATP-binding cassette transporter, retinal-specific
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, OTTHUMP00000012366, ENST00000370225, OTTHUMT00000029320
    Conserved Domains (2) summary
    TIGR01257
    Location:12272
    Retinal-specific_ATP-binding_cassette_transporter; 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 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

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