ABCA4

ABCA4 Gene 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]

Details

Type
Protein Coding
Official Symbol
ABCA4
Official Name
ATP binding cassette subfamily A member 4 [Source:HGNC Symbol;Acc:HGNC:34]
Ensembl ID
ENSG00000198691
Bio databases IDs NCBI: 24 Ensembl: ENSG00000198691
Aliases ATP binding cassette subfamily A member 4, Stargardt disease
Synonyms
ABC10,ABCR,ARMD2,ATP binding cassette subfamily A member 4,ATP-binding cassette, sub-family A member 4,CORD3,D430003I15Rik,FFM,RMP,RP19,STGD,STGD1
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • phospholipid transporter
  • ATP-binding domain
  • ATP binding
  • 11-cis retinal binding
  • daunorubicin resistance ABC transporter ATP-binding subunit
  • retinoid binding
  • nitrate transport ATP-binding subunits C and D
  • ATPase
  • heme ABC exporter, ATP-binding protein CcmA
  • nucleotide-binding domain
  • phosphonate C-P lyase system protein PhnK
  • LPS export ABC transporter ATP-binding protein
  • all-trans retinal binding
  • nickel import ATP-binding protein NikE
  • retinal-specific rim ABC transporter
  • P-loop containing Nucleoside Triphosphate Hydrolases
  • ATPases associated with a variety of cellular activities
  • ATPase activity, coupled to transmembrane movement of substances
  • nickel import ATP-binding protein NikD
  • GTPase
  • lipid transporter
  • organic alcohol transporter
  • transmembrane domain
  • ABC transporter
  • transporter

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • NR3C1
  • 8-azido-ATP
  • 1,N-6-ethenoadenosine triphosphate
  • HDAC6
  • CNGB1
  • SRF
  • RPN2
  • STXBP5L
  • HSP27
  • RALY
disease
  • retinal degeneration
  • retinitis pigmentosa
  • early-onset severe retinal dystrophy
  • retinal dystrophy
  • Stargardt disease 1
  • cone-rod dystrophy
  • Stargardt disease
  • retinitis pigmentosa type 19
  • hereditary disorder
  • fundus flavimaculatus
regulated by
  • VRT-325
  • CLIC4
  • lumacaftor
  • RHO
  • retinaldehyde
  • daunorubicin
  • corr-4a
  • ESR1
  • NRL
  • small-molecule corrector C18
regulates
  • CASP3
  • cholesterol
  • adenosine triphosphate
  • IFNG
  • Ccl3
  • IFNB1
  • C3
  • CFP
  • dihydro-N-retinylidene-N-retinylphosphatidylethanolamine
  • retinyl palmitate
role in cell
  • number
  • enlargement
  • degeneration
  • activation
  • invasion
  • abnormal morphology
  • maintenance
  • recovery
  • electrophysiology
  • ferroptosis

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane fraction
  • cytoplasmic vesicle membrane
  • cellular membrane
  • Endoplasmic Reticulum
  • membrane compartment
  • photoreceptor outer segments
  • cytoplasmic vesicles
  • endolysosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the ABCA4 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • lipid transport
  • phospholipid transfer to membrane
  • phototransduction, visible light
  • transmembrane transport
  • retinoid metabolic process
  • phospholipid translocation
  • photoreceptor cell maintenance
  • retinol transport
  • retinal metabolic process
  • visual perception

CELLULAR COMPONENT

Where in the cell the gene product is active
  • intracellular membrane-bounded organelle
  • membrane
  • cytoplasmic vesicle
  • endoplasmic reticulum
  • plasma membrane
  • photoreceptor outer segment

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • all-trans retinal binding
  • ATPase activity
  • ATP binding
  • 11-cis retinal binding
  • ATPase activity, coupled to transmembrane movement of substances
  • phospholipid transporter activity
  • GTPase activity
  • retinol transporter activity
  • retinoid binding

Gene-Specific Assays for Results You Can Trust

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