Protein

Retinal-specific ATP-binding cassette transporter

Gene

ABCA4

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -Experimental evidence at protein levelⁱ

Functionⁱ

In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.1 Publication

Regions

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Nucleotide bindingⁱ	963 – 970	ATP 1PROSITE-ProRule annotation		8
Nucleotide bindingⁱ	1972 – 1979	ATP 2PROSITE-ProRule annotation		8

GO - Molecular functionⁱ

ATPase activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 24097981
ATPase activity, coupled to transmembrane movement of substances
Source: ProtInc
Traceable author statementⁱ
- 9054934
ATP binding
Source: ProtInc
Traceable author statementⁱ
- 9054934
eye pigment precursor transporter activity Source: Reactome
phosphatidylethanolamine-translocating ATPase activity
Source: BHF-UCL
Inferred from direct assayⁱ
- 24097981
transporter activity
Source: ProtInc
Traceable author statementⁱ
- 9054934

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

phospholipid transfer to membrane Source: Ensembl
phospholipid translocation
Source: BHF-UCL
Inferred from direct assayⁱ
- 24097981
photoreceptor cell maintenance Source: Ensembl
phototransduction, visible light
Source: ProtInc
Traceable author statementⁱ
- 9202155
retinoid metabolic process Source: Reactome
transmembrane transport Source: Reactome
visual perception
Source: ProtInc
Traceable author statementⁱ
- 9425888

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Sensory transduction, Transport, Vision
Ligand	ATP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactomeⁱ	R-HSA-2453864 Retinoid cycle disease events R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision) R-HSA-382556 ABC-family proteins mediated transport

Reactomeⁱ

R-HSA-2453864 Retinoid cycle disease events
R-HSA-2453902 The canonical retinoid cycle in rods (twilight vision)
R-HSA-382556 ABC-family proteins mediated transport

Protein family/group databases

TCDBⁱ	3.A.1.211.2 the atp-binding cassette (abc) superfamily

TCDBⁱ

3.A.1.211.2 the atp-binding cassette (abc) superfamily

Chemistry databases

SwissLipidsⁱ	SLP:000000347

SwissLipidsⁱ

SLP:000000347

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Retinal-specific ATP-binding cassette transporter Alternative name(s): ATP-binding cassette sub-family A member 4 RIM ABC transporter Short name: RIM protein Short name: RmP Stargardt disease protein
Gene namesⁱ	Name:ABCA4 Synonyms:ABCR
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 1

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000198691.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:34 ABCA4
MIMⁱ	601691 gene
neXtProtⁱ	NX_P78363

Topology

Feature key	Position(s)	DescriptionActions	Length
Topological domainⁱ	1 – 21	CytoplasmicAdd BLAST	21
Transmembraneⁱ	22 – 42	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	43 – 646	ExtracellularAdd BLAST	604
Transmembraneⁱ	647 – 667	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	700 – 720	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	731 – 751	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	760 – 780	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	836 – 856	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	857 – 1376	CytoplasmicAdd BLAST	520
Transmembraneⁱ	1377 – 1397	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	1398 – 1727	ExtracellularAdd BLAST	330
Transmembraneⁱ	1728 – 1748	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	1760 – 1780	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	1793 – 1813	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	1832 – 1852	HelicalSequence analysisAdd BLAST	21
Transmembraneⁱ	1874 – 1894	HelicalSequence analysisAdd BLAST	21
Topological domainⁱ	1895 – 2273	CytoplasmicAdd BLAST	379

Keywords - Cellular componentⁱ

Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Stargardt disease 1 (STGD1)18 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.

See also OMIM:248200

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_012494	13 – 15	Missing in STGD1. 1 Publication	3
Natural variantⁱVAR_008398	18	R → W in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs121909205EnsemblClinVar.	1
Natural variantⁱVAR_008399	24	R → H in STGD1. Corresponds to variant dbSNP:rs62645958EnsemblClinVar.	1
Natural variantⁱVAR_008400	54	C → Y in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs150774447EnsemblClinVar.	1
Natural variantⁱVAR_012495	58	N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748524EnsemblClinVar.	1
Natural variantⁱVAR_012496	60	A → E in STGD1. 1 Publication	1
Natural variantⁱVAR_012497	60	A → T in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751411EnsemblClinVar.	1
Natural variantⁱVAR_008492	60	A → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs55732384EnsemblClinVar.	1
Natural variantⁱVAR_012498	68	P → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62654397EnsemblClinVar.	1
Natural variantⁱVAR_012499	68	P → R in STGD1. Corresponds to variant dbSNP:rs62654397EnsemblClinVar.	1
Natural variantⁱVAR_012500	72	G → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751412EnsemblClinVar.	1
Natural variantⁱVAR_008402	75	C → G in STGD1. Corresponds to variant dbSNP:rs61748526EnsemblClinVar.	1
Natural variantⁱVAR_012501	77	V → E in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748527EnsemblClinVar.	1
Natural variantⁱVAR_008403	96	N → D in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.	1
Natural variantⁱVAR_008404	96	N → H in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.	1
Natural variantⁱVAR_012502	100	S → P in STGD1. Corresponds to variant dbSNP:rs61748530EnsemblClinVar.	1
Natural variantⁱVAR_012504	156	I → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646863EnsemblClinVar.	1
Natural variantⁱVAR_012505	190	Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865397EnsemblClinVar.	1
Natural variantⁱVAR_008405	192	A → T in STGD1. Corresponds to variant dbSNP:rs61748535EnsemblClinVar.	1
Natural variantⁱVAR_012506	206	S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61748536EnsemblClinVar.	1
Natural variantⁱVAR_012508	220	R → C in STGD1. Corresponds to variant dbSNP:rs61748538EnsemblClinVar.	1
Natural variantⁱVAR_012509	230	C → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs1057518767Ensembl.	1
Natural variantⁱVAR_012510	244	L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646864EnsemblClinVar.	1
Natural variantⁱVAR_012511	247	N → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62645950EnsemblClinVar.	1
Natural variantⁱVAR_008407	249	D → G in STGD1. Corresponds to variant dbSNP:rs62646865EnsemblClinVar.	1
Natural variantⁱVAR_008408	300	T → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748544EnsemblClinVar.	1
Natural variantⁱVAR_012512	309	P → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748545EnsemblClinVar.	1
Natural variantⁱVAR_012513	328	E → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751419EnsemblClinVar.	1
Natural variantⁱVAR_012514	333	R → W in STGD1. Corresponds to variant dbSNP:rs61748546EnsemblClinVar.	1
Natural variantⁱVAR_008409	336	S → C in STGD1. Corresponds to variant dbSNP:rs61748547EnsemblClinVar.	1
Natural variantⁱVAR_008410	340	Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748548EnsemblClinVar.	1
Natural variantⁱVAR_012516	380	N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748549EnsemblClinVar.	1
Natural variantⁱVAR_008412	445	S → R in STGD1. Corresponds to variant dbSNP:rs61748552EnsemblClinVar.	1
Natural variantⁱVAR_008414	523	D → E in STGD1. Corresponds to variant dbSNP:rs62646868EnsemblClinVar.	1
Natural variantⁱVAR_012518	525	F → C in STGD1. 1 Publication	1
Natural variantⁱVAR_012519	537	R → C in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748556EnsemblClinVar.	1
Natural variantⁱVAR_008415	541	L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 PublicationsCorresponds to variant dbSNP:rs61751392EnsemblClinVar.	1
Natural variantⁱVAR_012520	549	A → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748557EnsemblClinVar.	1
Natural variantⁱVAR_012521	550	G → R in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748558EnsemblClinVar.	1
Natural variantⁱVAR_008416	572	R → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748559EnsemblClinVar.	1
Natural variantⁱVAR_008417	572	R → Q in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748559EnsemblClinVar.	1
Natural variantⁱVAR_012523	602	R → Q in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749410EnsemblClinVar.	1
Natural variantⁱVAR_008418	602	R → W in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61749409EnsemblClinVar.	1
Natural variantⁱVAR_012524	607	G → R in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61749412EnsemblClinVar.	1
Natural variantⁱVAR_012525	607	G → W in STGD1. Corresponds to variant dbSNP:rs61749412EnsemblClinVar.	1
Natural variantⁱVAR_008419	608	F → I in STGD1. Corresponds to variant dbSNP:rs61752398EnsemblClinVar.	1
Natural variantⁱVAR_012526	635	Q → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749414EnsemblClinVar.	1
Natural variantⁱVAR_012527	636	Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752400EnsemblClinVar.	1
Natural variantⁱVAR_012528	643	V → M in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749417EnsemblClinVar.	1
Natural variantⁱVAR_008421	645	D → N in STGD1. Corresponds to variant dbSNP:rs61749418EnsemblClinVar.	1
Natural variantⁱVAR_012529	653	R → C in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61749420EnsemblClinVar.	1
Natural variantⁱVAR_012530	686	L → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752402EnsemblClinVar.	1
Natural variantⁱVAR_012531	716	T → M in STGD1. Corresponds to variant dbSNP:rs61749426EnsemblClinVar.	1
Natural variantⁱVAR_012532	764	C → Y in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749428EnsemblClinVar.	1
Natural variantⁱVAR_012534	765	S → N in STGD1. Corresponds to variant dbSNP:rs61749429EnsemblClinVar.	1
Natural variantⁱVAR_012533	765	S → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752404EnsemblClinVar.	1
Natural variantⁱVAR_012535	767	V → D in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61751395EnsemblClinVar.	1
Natural variantⁱVAR_012536	797	L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749432EnsemblClinVar.	1
Natural variantⁱVAR_008423	821	W → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749433EnsemblClinVar.	1
Natural variantⁱVAR_012537	824	I → T in STGD1. 1 Publication	1
Natural variantⁱVAR_012538	849	V → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749435EnsemblClinVar.	1
Natural variantⁱVAR_008424	851	G → D in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61749436EnsemblClinVar.	1
Natural variantⁱVAR_012539	854	A → T in STGD1. Corresponds to variant dbSNP:rs61749437EnsemblClinVar.	1
Natural variantⁱVAR_008425	863	G → A in STGD1, FFM and CORD3; mild alteration probably leading to disease phenotype only in combination with a more severe allele; frequent mutation in northern Europe in linkage disequilibrium with the polymorphic variant Q-943; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 5 PublicationsCorresponds to variant dbSNP:rs76157638EnsemblClinVar.	1
Natural variantⁱVAR_012541	873	F → L in STGD1. Corresponds to variant dbSNP:rs62642570EnsemblClinVar.	1
Natural variantⁱVAR_012542	897	T → I in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61749440EnsemblClinVar.	1
Natural variantⁱVAR_008427	931	V → M in STGD1. 1 PublicationCorresponds to variant dbSNP:rs58331765EnsemblClinVar.	1
Natural variantⁱVAR_012544	935	V → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749444EnsemblClinVar.	1
Natural variantⁱVAR_008429	957	Q → R in STGD1. Corresponds to variant dbSNP:rs61749448EnsemblClinVar.	1
Natural variantⁱVAR_012546	959	T → I in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752409EnsemblClinVar.	1
Natural variantⁱVAR_008430	965	N → S in STGD1; reduced retinal-stimulated ATP hydrolysis. 2 PublicationsCorresponds to variant dbSNP:rs201471607EnsemblClinVar.	1
Natural variantⁱVAR_012547	971	T → N in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs61749450EnsemblClinVar.	1
Natural variantⁱVAR_012548	972	T → N in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61749451EnsemblClinVar.	1
Natural variantⁱVAR_012549	974	S → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865400EnsemblClinVar.	1
Natural variantⁱVAR_008431	978	G → C in STGD1. Corresponds to variant dbSNP:rs61749452EnsemblClinVar.	1
Natural variantⁱVAR_012550	989	V → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749454EnsemblClinVar.	1
Natural variantⁱVAR_012552	1014	L → R in STGD1. Corresponds to variant dbSNP:rs61749456EnsemblClinVar.	1
Natural variantⁱVAR_012553	1019	T → A in STGD1. Corresponds to variant dbSNP:rs61749457EnsemblClinVar.	1
Natural variantⁱVAR_012554	1019	T → M in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs201855602EnsemblClinVar.	1
Natural variantⁱVAR_012555	1022	E → K in STGD1. Corresponds to variant dbSNP:rs61749459EnsemblClinVar.	1
Natural variantⁱVAR_012556	1031	K → E in STGD1. Corresponds to variant dbSNP:rs61750060EnsemblClinVar.	1
Natural variantⁱVAR_008432	1036	E → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750061EnsemblClinVar.	1
Natural variantⁱVAR_008433	1038	A → V in STGD1, FFM and CORD3; frequent mutation; reduced ATP-binding and retinal-stimulated ATP hydrolysis. 8 PublicationsCorresponds to variant dbSNP:rs61751374EnsemblClinVar.	1
Natural variantⁱVAR_012557	1055	R → W in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752412EnsemblClinVar.	1
Natural variantⁱVAR_012558	1063	S → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752413EnsemblClinVar.	1
Natural variantⁱVAR_008434	1071	S → L in STGD1; reduced ATP-binding capacity. Corresponds to variant dbSNP:rs61750065EnsemblClinVar.	1
Natural variantⁱVAR_008435	1072	V → A in STGD1.	1
Natural variantⁱVAR_012559	1087	E → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752416EnsemblClinVar.	1
Natural variantⁱVAR_008436	1087	E → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751398EnsemblClinVar.	1
Natural variantⁱVAR_012561	1097	R → C in STGD1. 1 Publication	1
Natural variantⁱVAR_012563	1108	R → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750121EnsemblClinVar.	1
Natural variantⁱVAR_012564	1108	R → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750121EnsemblClinVar.	1
Natural variantⁱVAR_008437	1112	T → N in STGD1. Corresponds to variant dbSNP:rs61750122EnsemblClinVar.	1
Natural variantⁱVAR_012565	1129	R → C in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 1 PublicationCorresponds to variant dbSNP:rs779426136EnsemblClinVar.	1
Natural variantⁱVAR_008440	1201	L → R in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 2 PublicationsCorresponds to variant dbSNP:rs61750126EnsemblClinVar.	1
Natural variantⁱVAR_008441	1204	D → N in STGD1. Corresponds to variant dbSNP:rs61750127EnsemblClinVar.	1
Natural variantⁱVAR_012567	1250	L → P in STGD1. Corresponds to variant dbSNP:rs61750128EnsemblClinVar.	1
Natural variantⁱVAR_012569	1300	R → Q in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750129EnsemblClinVar.	1
Natural variantⁱVAR_008443	1380	P → L in STGD1; reduced ATP-binding capacity. 3 PublicationsCorresponds to variant dbSNP:rs61750130EnsemblClinVar.	1
Natural variantⁱVAR_012570	1388	L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750131EnsemblClinVar.	1
Natural variantⁱVAR_012571	1399	E → K in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs62642573EnsemblClinVar.	1
Natural variantⁱVAR_008444	1406	H → Y in STGD1. Corresponds to variant dbSNP:rs61750133EnsemblClinVar.	1
Natural variantⁱVAR_008445	1408	W → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750134EnsemblClinVar.	1
Natural variantⁱVAR_008446	1408	W → R in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61750135EnsemblClinVar.	1
Natural variantⁱVAR_008448	1429	V → A in STGD1. Corresponds to variant dbSNP:rs61752432EnsemblClinVar.	1
Natural variantⁱVAR_012572	1430	L → P in STGD1. 1 Publication	1
Natural variantⁱVAR_008449	1433	V → I in STGD1. 1 PublicationCorresponds to variant dbSNP:rs56357060EnsemblClinVar.	1
Natural variantⁱVAR_008450	1439	G → D in STGD1. Corresponds to variant dbSNP:rs61750140EnsemblClinVar.	1
Natural variantⁱVAR_008451	1440	F → S in STGD1. Corresponds to variant dbSNP:rs61750141EnsemblClinVar.	1
Natural variantⁱVAR_012573	1440	F → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752433EnsemblClinVar.	1
Natural variantⁱVAR_012574	1443	R → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750142EnsemblClinVar.	1
Natural variantⁱVAR_008452	1486	P → L in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61750145EnsemblClinVar.	1
Natural variantⁱVAR_012575	1488	C → F in STGD1. Corresponds to variant dbSNP:rs61750147EnsemblClinVar.	1
Natural variantⁱVAR_012576	1488	C → Y in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750147EnsemblClinVar.	1
Natural variantⁱVAR_012578	1513	Q → R in STGD1. Corresponds to variant dbSNP:rs281865402EnsemblClinVar.	1
Natural variantⁱVAR_012579	1525	L → P in STGD1. Corresponds to variant dbSNP:rs61750151EnsemblClinVar.	1
Natural variantⁱVAR_008456	1526	T → M in STGD1; reduced retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61750152EnsemblClinVar.	1
Natural variantⁱVAR_008457	1532	D → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62642574EnsemblClinVar.	1
Natural variantⁱVAR_012580	1537	T → M in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62642575EnsemblClinVar.	1
Natural variantⁱVAR_008458	1562	I → T in STGD1, FFM, ARMD2 and CORD3. 3 PublicationsCorresponds to variant dbSNP:rs1762111EnsemblClinVar.	1
Natural variantⁱVAR_008460	1631	L → P in STGD1. Corresponds to variant dbSNP:rs61750158EnsemblClinVar.	1
Natural variantⁱVAR_012583	1640	R → Q in STGD1, FFM and CORD3. 4 PublicationsCorresponds to variant dbSNP:rs61751403EnsemblClinVar.	1
Natural variantⁱVAR_008462	1652	Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750560EnsemblClinVar.	1
Natural variantⁱVAR_012584	1681 – 1685	Missing in STGD1; highly reduced ATP-binding capacity.	5
Natural variantⁱVAR_012585	1689	S → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753020EnsemblClinVar.	1
Natural variantⁱVAR_012586	1693	V → I in STGD1. Corresponds to variant dbSNP:rs61750563EnsemblClinVar.	1
Natural variantⁱVAR_008463	1696	S → N in STGD1. Corresponds to variant dbSNP:rs61750564EnsemblClinVar.	1
Natural variantⁱVAR_008464	1703	Q → K in STGD1.	1
Natural variantⁱVAR_012587	1705	R → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753021EnsemblClinVar.	1
Natural variantⁱVAR_008465	1729	L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750567EnsemblClinVar.	1
Natural variantⁱVAR_012588	1733	M → T in STGD1. 1 PublicationCorresponds to variant dbSNP:rs765563320Ensembl.	1
Natural variantⁱVAR_012589	1736	S → P in STGD1. Corresponds to variant dbSNP:rs61750568EnsemblClinVar.	1
Natural variantⁱVAR_012590	1748	G → R in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61753025EnsemblClinVar.	1
Natural variantⁱVAR_012591	1761 – 1763	Missing in STGD1; highly reduced ATP-binding capacity.	3
Natural variantⁱVAR_012592	1763	L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753028EnsemblClinVar.	1
Natural variantⁱVAR_012593	1776	P → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865404EnsemblClinVar.	1
Natural variantⁱVAR_012594	1780	P → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs121909207EnsemblClinVar.	1
Natural variantⁱVAR_008466	1794	A → D in STGD1. Corresponds to variant dbSNP:rs61751406EnsemblClinVar.	1
Natural variantⁱVAR_012595	1799	N → D in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61750574EnsemblClinVar.	1
Natural variantⁱVAR_012596	1805	N → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753029EnsemblClinVar.	1
Natural variantⁱVAR_008467	1820	R → P in STGD1. Corresponds to variant dbSNP:rs62646875EnsemblClinVar.	1
Natural variantⁱVAR_008468	1838	H → Y in STGD1. Corresponds to variant dbSNP:rs62642562EnsemblClinVar.	1
Natural variantⁱVAR_008469	1843	R → W in STGD1. Corresponds to variant dbSNP:rs62642576EnsemblClinVar.	1
Natural variantⁱVAR_012598	1884	V → E in STGD1. Corresponds to variant dbSNP:rs62642578EnsemblClinVar.	1
Natural variantⁱVAR_012599	1885	E → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62642563EnsemblClinVar.	1
Natural variantⁱVAR_008471	1886	G → E in STGD1; highly reduced ATP-binding capacity. Corresponds to variant dbSNP:rs62642579EnsemblClinVar.	1
Natural variantⁱVAR_008472	1890	Missing in STGD1.	1
Natural variantⁱVAR_012600	1896	V → D in STGD1. Corresponds to variant dbSNP:rs61750636EnsemblClinVar.	1
Natural variantⁱVAR_012604	1975	G → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61753036EnsemblClinVar.	1
Natural variantⁱVAR_012605	2035	L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750642EnsemblClinVar.	1
Natural variantⁱVAR_008495	2038	R → W in STGD1; highly reduced ATP-binding capacity. 1 PublicationCorresponds to variant dbSNP:rs61750643EnsemblClinVar.	1
Natural variantⁱVAR_008481	2050	V → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs41292677EnsemblClinVar.	1
Natural variantⁱVAR_012608	2071	Y → F in STGD1.	1
Natural variantⁱVAR_012609	2077	R → G in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750645EnsemblClinVar.	1
Natural variantⁱVAR_008482	2077	R → W in STGD1; highly reduced ATP-binding capacity. 2 PublicationsCorresponds to variant dbSNP:rs61750645EnsemblClinVar.	1
Natural variantⁱVAR_008483	2096	E → K in STGD1; inhibition of ATP hydrolysis by retinal. Corresponds to variant dbSNP:rs61750646EnsemblClinVar.	1
Natural variantⁱVAR_012610	2107	R → C in STGD1. 1 PublicationCorresponds to variant dbSNP:rs2297669Ensembl.	1
Natural variantⁱVAR_008485	2107	R → H in STGD1; may predispose to develop retinal toxicity after treatment with chloroquine and hydroxychloroquine. 6 PublicationsCorresponds to variant dbSNP:rs62642564EnsemblClinVar.	1
Natural variantⁱVAR_008486	2128	H → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750651EnsemblClinVar.	1
Natural variantⁱVAR_008487	2131	E → K in STGD1. Corresponds to variant dbSNP:rs61750652EnsemblClinVar.	1
Natural variantⁱVAR_008488	2139	R → W in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750653EnsemblClinVar.	1
Natural variantⁱVAR_012612	2149	R → L in STGD1. Corresponds to variant dbSNP:rs61750655EnsemblClinVar.	1
Natural variantⁱVAR_012613	2150	C → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61750656EnsemblClinVar.	1
Natural variantⁱVAR_008490	2160	K → R in STGD1. Corresponds to variant dbSNP:rs281865405EnsemblClinVar.	1
Natural variantⁱVAR_012615	2229	L → P in STGD1. Corresponds to variant dbSNP:rs61750659EnsemblClinVar.	1
Natural variantⁱVAR_012616	2241	L → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748521EnsemblClinVar.	1
Natural variantⁱVAR_012617	2263	R → L in STGD1. Corresponds to variant dbSNP:rs281865407EnsemblClinVar.	1

Fundus flavimaculatus (FFM)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAutosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course.

Macular degeneration, age-related, 2 (ARMD2)2 Publications

Disease susceptibility is associated with variations affecting the gene represented in this entry.

Disease descriptionA form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_067427	762	A → E in ARMD2. 1 Publication	1
Natural variantⁱVAR_008447	1428	T → M in ARMD2. Corresponds to variant dbSNP:rs1800549EnsemblClinVar.	1
Natural variantⁱVAR_008455	1517	R → S in ARMD2. Corresponds to variant dbSNP:rs1800550EnsemblClinVar.	1
Natural variantⁱVAR_008459	1578	G → R in ARMD2. Corresponds to variant dbSNP:rs1800551EnsemblClinVar.	1
Natural variantⁱVAR_067428	1724	W → C in ARMD2. 1 Publication	1
Natural variantⁱVAR_067429	2047	I → N in ARMD2. 1 Publication	1
Natural variantⁱVAR_067430	2137	C → Y in ARMD2. 1 Publication	1

Cone-rod dystrophy 3 (CORD3)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_012581	1598	A → D in CORD3. 1 PublicationCorresponds to variant dbSNP:rs61750155EnsemblClinVar.	1
Natural variantⁱVAR_012607	2060	L → R in CORD3. 2 PublicationsCorresponds to variant dbSNP:rs61753039EnsemblClinVar.	1
Natural variantⁱVAR_012611	2146	G → D in CORD3. 1 PublicationCorresponds to variant dbSNP:rs61753044EnsemblClinVar.	1

Retinitis pigmentosa 19 (RP19)

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy.

Mutagenesis

Feature key	Position(s)	DescriptionActions	Length
Mutagenesisⁱ	966	G → D: Abolishes basal and retinal-stimulated ATP hydrolysis. 1 Publication	1
Mutagenesisⁱ	969	K → M: Abolishes basal and retinal-stimulated ATP hydrolysis. 1 Publication	1
Mutagenesisⁱ	1975	G → D: Inhibition of retinal-stimulated ATP hydrolysis. 1 Publication	1
Mutagenesisⁱ	1978	K → M: Inhibition of retinal-stimulated ATP hydrolysis. 1 Publication	1

Keywords - Diseaseⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	24
GeneReviewsⁱ	ABCA4
MalaCards human disease database More...MalaCardsⁱ	ABCA4
MIMⁱ	153800 phenotype 248200 phenotype 601718 phenotype 604116 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000198691
Orphanetⁱ	279 Age-related macular degeneration 1872 Cone rod dystrophy 791 Retinitis pigmentosa 827 Stargardt disease
PharmGKBⁱ	PA24379

Polymorphism and mutation databases

BioMutaⁱ	ABCA4
DMDMⁱ	6707663

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000093301	1 – 2273	Retinal-specific ATP-binding cassette transporterAdd BLAST		2273

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Disulfide bondⁱ	75 ↔ 324	By similarity
Glycosylationⁱ	98	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	415	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	444	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	504	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	1469	N-linked (GlcNAc...) asparagine1 Publication	1
Disulfide bondⁱ	1488 ↔ 1502	By similarity
Glycosylationⁱ	1529	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	1588	N-linked (GlcNAc...) asparagine1 Publication	1
Glycosylationⁱ	1662	N-linked (GlcNAc...) asparagine1 Publication	1

Keywords - PTMⁱ

Disulfide bond, Glycoprotein

Proteomic databases

EPDⁱ	P78363
PaxDbⁱ	P78363
PeptideAtlas More...PeptideAtlasⁱ	P78363
PRIDEⁱ	P78363
ProteomicsDBⁱ	57593

PTM databases

iPTMnetⁱ	P78363
PhosphoSitePlusⁱ	P78363

Expressionⁱ

Tissue specificityⁱ

Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.

Gene expression databases

Bgeeⁱ	ENSG00000198691 Expressed in 92 organ(s), highest expression level in pigmented layer of retina
CleanExⁱ	HS_ABCA4
ExpressionAtlasⁱ	P78363 baseline and differential
Genevisibleⁱ	P78363 HS

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	106542, 1 interactor
ELMⁱ	P78363
STRINGⁱ	9606.ENSP00000359245

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P78363
SMRⁱ	P78363
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	929 – 1160	ABC transporter 1PROSITE-ProRule annotationAdd BLAST		232
Domainⁱ	1938 – 2170	ABC transporter 2PROSITE-ProRule annotationAdd BLAST		233

Sequence similaritiesⁱ

Belongs to the ABC transporter superfamily. ABCA family.Curated

Keywords - Domainⁱ

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG0059 Eukaryota COG1131 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00760000118965
HOGENOMⁱ	HOG000231547
HOVERGENⁱ	HBG050436
InParanoidⁱ	P78363
KEGG Orthology (KO) More...KOⁱ	K05644
OMAⁱ	WAVIPMM
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G007E
PhylomeDBⁱ	P78363
TreeFamⁱ	TF105191

Family and domain databases

InterProⁱ	View protein in InterPro IPR003593 AAA+_ATPase IPR003439 ABC_transporter-like IPR017871 ABC_transporter_CS IPR026082 ABCA IPR005951 ABCA4/ABCR IPR027417 P-loop_NTPase
PANTHERⁱ	PTHR19229 PTHR19229, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00005 ABC_tran, 2 hits
SMARTⁱ	View protein in SMART SM00382 AAA, 2 hits
SUPFAMⁱ	SSF52540 SSF52540, 2 hits
TIGRFAMsⁱ	TIGR01257 rim_protein, 1 hit
PROSITEⁱ	View protein in PROSITE PS00211 ABC_TRANSPORTER_1, 1 hit PS50893 ABC_TRANSPORTER_2, 2 hits

Sequence (1+)ⁱ

Sequence statusⁱ: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show all Align All

P78363-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MGFVRQIQLL LWKNWTLRKR QKIRFVVELV WPLSLFLVLI WLRNANPLYS 
        60         70         80         90        100
HHECHFPNKA MPSAGMLPWL QGIFCNVNNP CFQSPTPGES PGIVSNYNNS 
       110        120        130        140        150
ILARVYRDFQ ELLMNAPESQ HLGRIWTELH ILSQFMDTLR THPERIAGRG 
       160        170        180        190        200
IRIRDILKDE ETLTLFLIKN IGLSDSVVYL LINSQVRPEQ FAHGVPDLAL 
       210        220        230        240        250
KDIACSEALL ERFIIFSQRR GAKTVRYALC SLSQGTLQWI EDTLYANVDF 
       260        270        280        290        300
FKLFRVLPTL LDSRSQGINL RSWGGILSDM SPRIQEFIHR PSMQDLLWVT 
       310        320        330        340        350
RPLMQNGGPE TFTKLMGILS DLLCGYPEGG GSRVLSFNWY EDNNYKAFLG 
       360        370        380        390        400
IDSTRKDPIY SYDRRTTSFC NALIQSLESN PLTKIAWRAA KPLLMGKILY 
       410        420        430        440        450
TPDSPAARRI LKNANSTFEE LEHVRKLVKA WEEVGPQIWY FFDNSTQMNM 
       460        470        480        490        500
IRDTLGNPTV KDFLNRQLGE EGITAEAILN FLYKGPRESQ ADDMANFDWR 
       510        520        530        540        550
DIFNITDRTL RLVNQYLECL VLDKFESYND ETQLTQRALS LLEENMFWAG 
       560        570        580        590        600
VVFPDMYPWT SSLPPHVKYK IRMDIDVVEK TNKIKDRYWD SGPRADPVED 
       610        620        630        640        650
FRYIWGGFAY LQDMVEQGIT RSQVQAEAPV GIYLQQMPYP CFVDDSFMII 
       660        670        680        690        700
LNRCFPIFMV LAWIYSVSMT VKSIVLEKEL RLKETLKNQG VSNAVIWCTW 
       710        720        730        740        750
FLDSFSIMSM SIFLLTIFIM HGRILHYSDP FILFLFLLAF STATIMLCFL 
       760        770        780        790        800
LSTFFSKASL AAACSGVIYF TLYLPHILCF AWQDRMTAEL KKAVSLLSPV 
       810        820        830        840        850
AFGFGTEYLV RFEEQGLGLQ WSNIGNSPTE GDEFSFLLSM QMMLLDAAVY 
       860        870        880        890        900
GLLAWYLDQV FPGDYGTPLP WYFLLQESYW LGGEGCSTRE ERALEKTEPL 
       910        920        930        940        950
TEETEDPEHP EGIHDSFFER EHPGWVPGVC VKNLVKIFEP CGRPAVDRLN 
       960        970        980        990       1000
ITFYENQITA FLGHNGAGKT TTLSILTGLL PPTSGTVLVG GRDIETSLDA 
      1010       1020       1030       1040       1050
VRQSLGMCPQ HNILFHHLTV AEHMLFYAQL KGKSQEEAQL EMEAMLEDTG 
      1060       1070       1080       1090       1100
LHHKRNEEAQ DLSGGMQRKL SVAIAFVGDA KVVILDEPTS GVDPYSRRSI 
      1110       1120       1130       1140       1150
WDLLLKYRSG RTIIMSTHHM DEADLLGDRI AIIAQGRLYC SGTPLFLKNC 
      1160       1170       1180       1190       1200
FGTGLYLTLV RKMKNIQSQR KGSEGTCSCS SKGFSTTCPA HVDDLTPEQV 
      1210       1220       1230       1240       1250
LDGDVNELMD VVLHHVPEAK LVECIGQELI FLLPNKNFKH RAYASLFREL 
      1260       1270       1280       1290       1300
EETLADLGLS SFGISDTPLE EIFLKVTEDS DSGPLFAGGA QQKRENVNPR 
      1310       1320       1330       1340       1350
HPCLGPREKA GQTPQDSNVC SPGAPAAHPE GQPPPEPECP GPQLNTGTQL 
      1360       1370       1380       1390       1400
VLQHVQALLV KRFQHTIRSH KDFLAQIVLP ATFVFLALML SIVIPPFGEY 
      1410       1420       1430       1440       1450
PALTLHPWIY GQQYTFFSMD EPGSEQFTVL ADVLLNKPGF GNRCLKEGWL 
      1460       1470       1480       1490       1500
PEYPCGNSTP WKTPSVSPNI TQLFQKQKWT QVNPSPSCRC STREKLTMLP 
      1510       1520       1530       1540       1550
ECPEGAGGLP PPQRTQRSTE ILQDLTDRNI SDFLVKTYPA LIRSSLKSKF 
      1560       1570       1580       1590       1600
WVNEQRYGGI SIGGKLPVVP ITGEALVGFL SDLGRIMNVS GGPITREASK 
      1610       1620       1630       1640       1650
EIPDFLKHLE TEDNIKVWFN NKGWHALVSF LNVAHNAILR ASLPKDRSPE 
      1660       1670       1680       1690       1700
EYGITVISQP LNLTKEQLSE ITVLTTSVDA VVAICVIFSM SFVPASFVLY 
      1710       1720       1730       1740       1750
LIQERVNKSK HLQFISGVSP TTYWVTNFLW DIMNYSVSAG LVVGIFIGFQ 
      1760       1770       1780       1790       1800
KKAYTSPENL PALVALLLLY GWAVIPMMYP ASFLFDVPST AYVALSCANL 
      1810       1820       1830       1840       1850
FIGINSSAIT FILELFENNR TLLRFNAVLR KLLIVFPHFC LGRGLIDLAL 
      1860       1870       1880       1890       1900
SQAVTDVYAR FGEEHSANPF HWDLIGKNLF AMVVEGVVYF LLTLLVQRHF 
      1910       1920       1930       1940       1950
FLSQWIAEPT KEPIVDEDDD VAEERQRIIT GGNKTDILRL HELTKIYPGT 
      1960       1970       1980       1990       2000
SSPAVDRLCV GVRPGECFGL LGVNGAGKTT TFKMLTGDTT VTSGDATVAG 
      2010       2020       2030       2040       2050
KSILTNISEV HQNMGYCPQF DAIDELLTGR EHLYLYARLR GVPAEEIEKV 
      2060       2070       2080       2090       2100
ANWSIKSLGL TVYADCLAGT YSGGNKRKLS TAIALIGCPP LVLLDEPTTG 
      2110       2120       2130       2140       2150
MDPQARRMLW NVIVSIIREG RAVVLTSHSM EECEALCTRL AIMVKGAFRC 
      2160       2170       2180       2190       2200
MGTIQHLKSK FGDGYIVTMK IKSPKDDLLP DLNPVEQFFQ GNFPGSVQRE 
      2210       2220       2230       2240       2250
RHYNMLQFQV SSSSLARIFQ LLLSHKDSLL IEEYSVTQTT LDQVFVNFAK 
      2260       2270 
QQTESHDLPL HPRAAGASRQ AQD

Length:2,273

Mass (Da):255,944

Last modified:May 30, 2000 - v3

Checksum:ⁱ6E7012D3041CD043

Computationally mapped potential isoform sequencesⁱ

There is 1 potential isoform mapped to this entry.BLAST Align Show all Add to basket

	Entry	Entry name		Protein names	Gene names	Length	Annotation

	F6TT59	F6TT59_HUMAN		Retinal-specific ATP-binding casset... Retinal-specific ATP-binding cassette transporter	ABCA4	1,065	Annotation score:

Sequence cautionⁱ

The sequence BAE06122 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	722	G → V in AAC23915 (PubMed:9202155).Curated	1
Sequence conflictⁱ	849	V → C in AAC51144 (PubMed:9054934).Curated	1
Sequence conflictⁱ	882	G → S in AAC51144 (PubMed:9054934).Curated	1
Sequence conflictⁱ	882	G → S in CAA75729 (PubMed:9503029).Curated	1
Sequence conflictⁱ	941	C → S in AAC23915 (PubMed:9202155).Curated	1
Sequence conflictⁱ	1116	S → P in AAC51144 (PubMed:9054934).Curated	1
Sequence conflictⁱ	1125 – 1126	LL → HQ in AAC51144 (PubMed:9054934).Curated	2
Sequence conflictⁱ	1395	P → L in AAC51144 (PubMed:9054934).Curated	1
Sequence conflictⁱ	1395	P → L in CAA75729 (PubMed:9503029).Curated	1
Sequence conflictⁱ	1465	S → C in AAC05632 (PubMed:9490294).Curated	1
Sequence conflictⁱ	1518	S → T in AAC05632 (PubMed:9490294).Curated	1
Sequence conflictⁱ	1733	M → V in AAC23915 (PubMed:9202155).Curated	1
Sequence conflictⁱ	1989	T → N in AAC23915 (PubMed:9202155).Curated	1
Sequence conflictⁱ	2119	E → K in AAC51144 (PubMed:9054934).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_012493	11	L → P in FFM. 1 PublicationCorresponds to variant dbSNP:rs62645946EnsemblClinVar.	1
Natural variantⁱVAR_012494	13 – 15	Missing in STGD1. 1 Publication	3
Natural variantⁱVAR_008398	18	R → W in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs121909205EnsemblClinVar.	1
Natural variantⁱVAR_008399	24	R → H in STGD1. Corresponds to variant dbSNP:rs62645958EnsemblClinVar.	1
Natural variantⁱVAR_008400	54	C → Y in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs150774447EnsemblClinVar.	1
Natural variantⁱVAR_012495	58	N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748524EnsemblClinVar.	1
Natural variantⁱVAR_012496	60	A → E in STGD1. 1 Publication	1
Natural variantⁱVAR_012497	60	A → T in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751411EnsemblClinVar.	1
Natural variantⁱVAR_008492	60	A → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs55732384EnsemblClinVar.	1
Natural variantⁱVAR_008401	65	G → E in STGD1 and CORD3. 3 PublicationsCorresponds to variant dbSNP:rs62654395EnsemblClinVar.	1
Natural variantⁱVAR_012498	68	P → L in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62654397EnsemblClinVar.	1
Natural variantⁱVAR_012499	68	P → R in STGD1. Corresponds to variant dbSNP:rs62654397EnsemblClinVar.	1
Natural variantⁱVAR_012500	72	G → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751412EnsemblClinVar.	1
Natural variantⁱVAR_008402	75	C → G in STGD1. Corresponds to variant dbSNP:rs61748526EnsemblClinVar.	1
Natural variantⁱVAR_012501	77	V → E in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748527EnsemblClinVar.	1
Natural variantⁱVAR_008403	96	N → D in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.	1
Natural variantⁱVAR_008404	96	N → H in STGD1. Corresponds to variant dbSNP:rs61748529EnsemblClinVar.	1
Natural variantⁱVAR_012502	100	S → P in STGD1. Corresponds to variant dbSNP:rs61748530EnsemblClinVar.	1
Natural variantⁱVAR_012503	152	R → Q1 PublicationCorresponds to variant dbSNP:rs62646862EnsemblClinVar.	1
Natural variantⁱVAR_012504	156	I → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646863EnsemblClinVar.	1
Natural variantⁱVAR_012505	190	Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865397EnsemblClinVar.	1
Natural variantⁱVAR_008405	192	A → T in STGD1. Corresponds to variant dbSNP:rs61748535EnsemblClinVar.	1
Natural variantⁱVAR_012506	206	S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61748536EnsemblClinVar.	1
Natural variantⁱVAR_008406	212	R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 7 PublicationsCorresponds to variant dbSNP:rs61750200EnsemblClinVar.	1
Natural variantⁱVAR_012507	212	R → H5 PublicationsCorresponds to variant dbSNP:rs6657239EnsemblClinVar.	1
Natural variantⁱVAR_012508	220	R → C in STGD1. Corresponds to variant dbSNP:rs61748538EnsemblClinVar.	1
Natural variantⁱVAR_035736	224	T → M in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs373540612Ensembl.	1
Natural variantⁱVAR_012509	230	C → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs1057518767Ensembl.	1
Natural variantⁱVAR_012510	244	L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646864EnsemblClinVar.	1
Natural variantⁱVAR_012511	247	N → S in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62645950EnsemblClinVar.	1
Natural variantⁱVAR_008407	249	D → G in STGD1. Corresponds to variant dbSNP:rs62646865EnsemblClinVar.	1
Natural variantⁱVAR_008408	300	T → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748544EnsemblClinVar.	1
Natural variantⁱVAR_012512	309	P → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748545EnsemblClinVar.	1
Natural variantⁱVAR_012513	328	E → V in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751419EnsemblClinVar.	1
Natural variantⁱVAR_012514	333	R → W in STGD1. Corresponds to variant dbSNP:rs61748546EnsemblClinVar.	1
Natural variantⁱVAR_008409	336	S → C in STGD1. Corresponds to variant dbSNP:rs61748547EnsemblClinVar.	1
Natural variantⁱVAR_012515	339	W → G in FFM. 1 PublicationCorresponds to variant dbSNP:rs61751420EnsemblClinVar.	1
Natural variantⁱVAR_008410	340	Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748548EnsemblClinVar.	1
Natural variantⁱVAR_012516	380	N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748549EnsemblClinVar.	1
Natural variantⁱVAR_008411	407	A → V in STGD1 and CORD3. Corresponds to variant dbSNP:rs61751264EnsemblClinVar.	1
Natural variantⁱVAR_012517	423	H → R5 PublicationsCorresponds to variant dbSNP:rs3112831EnsemblClinVar.	1
Natural variantⁱVAR_008412	445	S → R in STGD1. Corresponds to variant dbSNP:rs61748552EnsemblClinVar.	1
Natural variantⁱVAR_008413	471	E → K in ARMD2 and STGD1; ATP-binding capacity and retinal stimulation as in wild-type. 1 PublicationCorresponds to variant dbSNP:rs1800548EnsemblClinVar.	1
Natural variantⁱVAR_008414	523	D → E in STGD1. Corresponds to variant dbSNP:rs62646868EnsemblClinVar.	1
Natural variantⁱVAR_012518	525	F → C in STGD1. 1 Publication	1
Natural variantⁱVAR_012519	537	R → C in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748556EnsemblClinVar.	1
Natural variantⁱVAR_008415	541	L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. 5 PublicationsCorresponds to variant dbSNP:rs61751392EnsemblClinVar.	1
Natural variantⁱVAR_012520	549	A → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748557EnsemblClinVar.	1
Natural variantⁱVAR_012521	550	G → R in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748558EnsemblClinVar.	1
Natural variantⁱVAR_012522	552	V → I2 PublicationsCorresponds to variant dbSNP:rs145525174EnsemblClinVar.	1
Natural variantⁱVAR_008416	572	R → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748559EnsemblClinVar.	1
Natural variantⁱVAR_008417	572	R → Q in STGD1. 2 Publications

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_012493	11	L → P in FFM. 1 PublicationCorresponds to variant dbSNP:rs62645946EnsemblClinVar.	1
Natural variantⁱVAR_012515	339	W → G in FFM. 1 PublicationCorresponds to variant dbSNP:rs61751420EnsemblClinVar.	1
Natural variantⁱVAR_012551	991	G → R in FFM. 1 PublicationCorresponds to variant dbSNP:rs61749455EnsemblClinVar.	1
Natural variantⁱVAR_012560	1091	G → E in FFM. 1 PublicationCorresponds to variant dbSNP:rs61752417EnsemblClinVar.	1
Natural variantⁱVAR_012568	1253	T → M in FFM; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61752424EnsemblClinVar.	1
Natural variantⁱVAR_012577	1508	G → C in FFM. 1 Publication	1
Natural variantⁱVAR_012603	1971	L → R in FFM; highly reduced ATP-binding capacity; abolishes basal and retinal-stimulated ATP hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61753034EnsemblClinVar.	1

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UniProtKB - P78363 (ABCA4_HUMAN)

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Retinal-specific ATP-binding cassette transporter

ABCA4

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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Retinitis pigmentosa 19 (RP19)

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Polymorphism and mutation databases

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Proteomic databases

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Protein-protein interaction databases

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3D structure databases

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Domains and Repeats

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Phylogenomic databases

Family and domain databases

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

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Functionⁱ

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Names & Taxonomyⁱ

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Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Sequence cautionⁱ