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

Gene ID: 24, updated on 23-Nov-2021

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
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
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Genomic context

See ABCA4 in Genome Data Viewer
Location:
1p22.1
Exon count:
50
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (93992834..94121148, complement)
105.20201022 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-CO1 pseudogene 21 Neighboring gene Sharpr-MPRA regulatory region 9909 Neighboring gene Sharpr-MPRA regulatory region 14437 Neighboring gene uncharacterized LOC105378858 Neighboring gene Sharpr-MPRA regulatory region 7015 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
Genetic predictors of fibrin D-dimer levels in healthy adults.
GeneReviews: Not available
Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.
GeneReviews: Not available
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
GeneReviews: Not available
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
GeneReviews: Not available
Retinitis pigmentosa 19 Compare labs
Stargardt disease 1
MedGen: C1855465 OMIM: 248200 GeneReviews: Not available
Compare labs

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
enables retinoid binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables retinol transmembrane transporter activity TAS
Traceable Author Statement
more info
 
enables transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
located_in integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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

NCBI Reference Sequences (RefSeq)

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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_000350.3NP_000341.2  retinal-specific phospholipid-transporting ATPase ABCA4

    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
    P78363
    UniProtKB/TrEMBL
    Q6AI28
    Related
    ENSP00000359245.3, ENST00000370225.4
    Conserved Domains (1) summary
    TIGR01257
    Location:12272
    rim_protein; retinal-specific rim ABC transporter

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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