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Guidelines

MIRAGE

ATP binding cassette subfamily A member 4

Summary

Gene Symbol

ABCA4

Organism

Homo sapiens (human)

External Links

NCBI Gene

24

KEGG Gene ID

PubChem

24

Alliance of Genome Resources

HGNC:34

Annotation

Keyword

3D-structure
ATP-binding
Age-related macular degeneration
Cell projection
Cone-rod dystrophy
Cytoplasmic vesicle
Disease variant
Disulfide bond
Endoplasmic reticulum
Glycoprotein
Hydrolase
Phosphoprotein
Proteomics identification
Reference proteome
Repeat
Retinitis pigmentosa
Stargardt disease
Translocase
Transmembrane helix
Transport
Vision

Proteins

Displaying 1 entry
UniProt	Protein Name
P78363	ATP-binding cassette sub-family A member 4 RIM ABC transporter Retinal-specific ATP-binding cassette transporter Stargardt disease protein

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 17 in total

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GO Term	Evidence Code	PMID
retinoid metabolic process	ISS
retinoid metabolic process	TAS
phospholipid transfer to membrane
lipid transport	IBA
lipid transport	IEA

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

phototransduction [inference]

phototransduction, visible light

metabolic process [inference]

aldehyde metabolic process [inference]

retinal metabolic process

primary metabolic process [inference]

lipid metabolic process [inference]

isoprenoid metabolic process [inference]

terpenoid metabolic process [inference]

diterpenoid metabolic process [inference]

retinoid metabolic process

retinal metabolic process

olefinic compound metabolic process [inference]

retinal metabolic process

transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

membrane organization [inference]

regulation of membrane lipid distribution [inference]

lipid translocation [inference]

phospholipid translocation

multicellular organismal process [inference]

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus [inference]

visual perception

photoreceptor cell maintenance

response to stimulus [inference]

response to external stimulus [inference]

detection of external stimulus [inference]

detection of light stimulus [inference]

phototransduction [inference]

phototransduction, visible light

detection of visible light [inference]

phototransduction, visible light

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

detection of light stimulus [inference]

phototransduction [inference]

phototransduction, visible light

detection of visible light [inference]

phototransduction, visible light

detection of abiotic stimulus [inference]

detection of light stimulus [inference]

phototransduction [inference]

phototransduction, visible light

detection of visible light [inference]

phototransduction, visible light

detection of stimulus [inference]

detection of external stimulus [inference]

detection of light stimulus [inference]

phototransduction [inference]

phototransduction, visible light

detection of visible light [inference]

phototransduction, visible light

detection of abiotic stimulus [inference]

detection of light stimulus [inference]

phototransduction [inference]

phototransduction, visible light

detection of visible light [inference]

phototransduction, visible light

localization [inference]

establishment of localization [inference]

transport [inference]

lipid transport

phospholipid transport [inference]

lipid translocation [inference]

phospholipid translocation

isoprenoid transport [inference]

terpenoid transport [inference]

retinol transport

organophosphate ester transport [inference]

phospholipid transport [inference]

organic hydroxy compound transport

retinol transport

transmembrane transport

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction [inference]

phototransduction [inference]

phototransduction, visible light

regulation of biological quality [inference]

regulation of membrane lipid distribution [inference]

lipid translocation [inference]

phospholipid translocation

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
photoreceptor outer segment	ISS
photoreceptor outer segment	IEA
endoplasmic reticulum	IDA
endoplasmic reticulum	IEA
plasma membrane	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

photoreceptor outer segment

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

rod photoreceptor disc membrane

photoreceptor disc membrane

rod photoreceptor disc membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle

endoplasmic reticulum

intracellular vesicle [inference]

cytoplasmic vesicle

Displaying entries **1 - 5** of 23 in total

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GO Term	Evidence Code	PMID
GTPase activity	ISS
retinoid binding	ISS
11-cis retinal binding	IDA
all-trans retinal binding	IDA
ATP binding	TAS

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on acid anhydrides [inference]

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [inference]

pyrophosphatase activity [inference]

ribonucleoside triphosphate phosphatase activity [inference]

transporter activity [inference]

transmembrane transporter activity [inference]

alcohol transmembrane transporter activity [inference]

retinol transmembrane transporter activity

active transmembrane transporter activity [inference]

primary active transmembrane transporter activity [inference]

ATPase-coupled transmembrane transporter activity

ABC-type transporter activity

vitamin transmembrane transporter activity [inference]

retinol transmembrane transporter activity

lipid transmembrane transporter activity [inference]

retinol transmembrane transporter activity

intramembrane lipid carrier activity [inference]

ATPase-coupled intramembrane lipid carrier activity

flippase activity

glycerophospholipid flippase activity [inference]

phosphatidylethanolamine flippase activity

N-retinylidene-phosphatidylethanolamine flippase activity

binding [inference]

lipid binding [inference]

isoprenoid binding [inference]

retinoid binding

retinal binding [inference]

small molecule binding [inference]

vitamin binding [inference]

retinal binding [inference]

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

molecular carrier activity [inference]

lipid carrier activity [inference]

intramembrane lipid carrier activity [inference]

ATPase-coupled intramembrane lipid carrier activity

flippase activity

glycerophospholipid flippase activity [inference]

phosphatidylethanolamine flippase activity

N-retinylidene-phosphatidylethanolamine flippase activity

ATP-dependent activity [inference]

ATPase-coupled transmembrane transporter activity

ABC-type transporter activity

ATPase-coupled intramembrane lipid carrier activity

flippase activity

glycerophospholipid flippase activity [inference]

phosphatidylethanolamine flippase activity

N-retinylidene-phosphatidylethanolamine flippase activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

atp-binding cassette sub-family a

Functional Category

G: Carbohydrate transport and metabolism
P: Inorganic ion transport and metabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
ABC-type transporter activity
ATP binding
nucleotide binding

Displaying **all 6** entries
InterPro
AAA+ ATPase domain
ABC transporter A
ABC transporter-like, ATP-binding domain
ABC transporter-like, conserved site
ABC-2 type transporter, transmembrane domain
P-loop containing nucleoside triphosphate hydrolase

Disease

Disease Ontology

Displaying **all 7** entries
DO ID	Disease Name	Source
DOID:0111013	cone-rod dystrophy 3	Alliance of Genome Resources
DOID:0110354	retinitis pigmentosa 19	Alliance of Genome Resources
DOID:8501	fundus dystrophy	Alliance of Genome Resources
DOID:10584	retinitis pigmentosa	Alliance of Genome Resources
DOID:8466	retinal degeneration	Alliance of Genome Resources
DOID:4448	macular degeneration	Alliance of Genome Resources
DOID:0110015	age related macular degeneration 2	Alliance of Genome Resources

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	11304	MGI:109424
Caenorhabditis elegans	171782	WB:WBGene00000020

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026