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UniProtKB - P78363 (ABCA4_HUMAN)

Entry version 208 (23 Feb 2022)
Sequence version 3 (30 May 2000)
Previous versions | rss
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Protein

Retinal-specific phospholipid-transporting ATPase ABCA4

Gene

ABCA4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like the 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine from the lumen to the cytoplasmic leaflet of photoreceptor outer segment disk membranes, where N-cis-retinylidene-phosphatidylethanolamine (N-cis-R-PE) is then isomerized to its all-trans isomer (N-trans-R-PE) and reduced by RDH8 to produce all-trans-retinol (all-trans-rol) and therefore prevents the accumulation of excess of 11-cis-retinal and its schiff-base conjugate and the formation of toxic bisretinoid (PubMed:24097981, PubMed:22735453, PubMed:23144455, PubMed:20404325, PubMed:10075733, PubMed:29847635, PubMed:33375396).

May display both ATPase and GTPase activity that is strongly influenced by the lipid environment and the presence of retinoid compounds (PubMed:22735453).

Binds the unprotonated form of N-retinylidene-phosphatidylethanolamine with high affinity in the absence of ATP, and ATP binding and hydrolysis induce a protein conformational change that causes the dissociation of N-retinylidene-phosphatidylethanolamine (By similarity).

By similarity7 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

  • ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).1 Publication EC:7.6.2.1

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylethanolamine. Phospholipids translocase activity is highly reduced by berylium fluoride and aluminum floride. N-ethylmaleimide inhibits phospholipid translocase activity.1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=80 µM for ATP1 Publication
  1. Vmax=112.5 nmol/min/mg enzyme (for ATP hydrolysis)1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei1054ATPCombined sources1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi963 – 970ATPPROSITE-ProRule annotationCombined sources1 Publication8
Nucleotide bindingi1972 – 1980ATPPROSITE-ProRule annotationCombined sources1 Publication9
Nucleotide bindingi2073 – 2074ATPCombined sources1 Publication2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionTranslocase
Biological processSensory transduction, Transport, Vision
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P78363

Reactome - a knowledgebase of biological pathways and processes

More...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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P78363

Protein family/group databases

Transport Classification Database

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

Chemistry databases

SwissLipids knowledge resource for lipid biology

More...SwissLipidsi		SLP:000000347

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Retinal-specific phospholipid-transporting ATPase ABCA4Curated (EC:7.6.2.11 Publication)
Alternative name(s):
ATP-binding cassette sub-family A member 4
RIM ABC transporter
Short name:
RIM proteinv
Short name:
RmP
Retinal-specific ATP-binding cassette transporter
Stargardt disease protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ABCA4Imported
Synonyms:ABCR1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:34, ABCA4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601691, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P78363

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000198691

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 21CytoplasmicCuratedAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei22 – 42HelicalSequence analysisAdd BLAST21
Topological domaini43 – 646Extracellular1 PublicationAdd BLAST604
Transmembranei647 – 667HelicalSequence analysisAdd BLAST21
Topological domaini668 – 699CytoplasmicCuratedAdd BLAST32
Transmembranei700 – 720HelicalSequence analysisAdd BLAST21
Topological domaini721 – 730ExtracellularCurated10
Transmembranei731 – 751HelicalSequence analysisAdd BLAST21
Topological domaini752 – 759CytoplasmicCurated8
Transmembranei760 – 780HelicalSequence analysisAdd BLAST21
Topological domaini781 – 835ExtracellularCuratedAdd BLAST55
Transmembranei836 – 856HelicalSequence analysisAdd BLAST21
Topological domaini857 – 1376CytoplasmicCuratedAdd BLAST520
Transmembranei1377 – 1397HelicalSequence analysisAdd BLAST21
Topological domaini1398 – 1727Extracellular1 PublicationAdd BLAST330
Transmembranei1728 – 1748HelicalSequence analysisAdd BLAST21
Topological domaini1749 – 1759CytoplasmicCuratedAdd BLAST11
Transmembranei1760 – 1780HelicalSequence analysisAdd BLAST21
Topological domaini1781 – 1792ExtracellularCuratedAdd BLAST12
Transmembranei1793 – 1813HelicalSequence analysisAdd BLAST21
Topological domaini1814 – 1831CytoplasmicCuratedAdd BLAST18
Transmembranei1832 – 1852HelicalSequence analysisAdd BLAST21
Topological domaini1853 – 1873ExtracellularCuratedAdd BLAST21
Transmembranei1874 – 1894HelicalSequence analysisAdd BLAST21
Topological domaini1895 – 2273CytoplasmicCuratedAdd BLAST379

Keywords - Cellular componenti

Cell projection, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Stargardt disease 1 (STGD1)31 Publications
The disease is caused by variants 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01249413 – 15Missing in STGD1. 1 Publication3
Natural variantiVAR_08483314N → K in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_08483418R → P in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_00839818R → W in STGD1. 4 PublicationsCorresponds to variant dbSNP:rs121909205EnsemblClinVar.1
Natural variantiVAR_08483521 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST2253
Natural variantiVAR_00839924R → H in STGD1; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs62645958EnsemblClinVar.1
Natural variantiVAR_00840054C → Y in STGD1. 4 PublicationsCorresponds to variant dbSNP:rs150774447EnsemblClinVar.1
Natural variantiVAR_01249558N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748524EnsemblClinVar.1
Natural variantiVAR_01249660A → E in STGD1. 1 Publication1
Natural variantiVAR_01249760A → T in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61751411EnsemblClinVar.1
Natural variantiVAR_00849260A → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs55732384EnsemblClinVar.1
Natural variantiVAR_00840165G → E in STGD1 and CORD3. 4 PublicationsCorresponds to variant dbSNP:rs62654395EnsemblClinVar.1
Natural variantiVAR_01249868P → L in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs62654397EnsemblClinVar.1
Natural variantiVAR_01249968P → R in STGD1. Corresponds to variant dbSNP:rs62654397EnsemblClinVar.1
Natural variantiVAR_01250072G → R in STGD1; does not affect intracellular vesicle localization; does not affect solubility; significantly reduces N-Ret-PE binding; drastically reduces basal ATPase activity with little or no all trans retinal stimulation. 2 PublicationsCorresponds to variant dbSNP:rs61751412EnsemblClinVar.1
Natural variantiVAR_08483972G → V in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_00840275C → G in STGD1. Corresponds to variant dbSNP:rs61748526EnsemblClinVar.1
Natural variantiVAR_01250177V → E in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748527EnsemblClinVar.1
Natural variantiVAR_08500989 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST2185
Natural variantiVAR_00840396N → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748529EnsemblClinVar.1
Natural variantiVAR_00840496N → H in STGD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61748529EnsemblClinVar.1
Natural variantiVAR_08484096N → K in STGD1; unknown pathological significance. 2 Publications1
Natural variantiVAR_08484197Y → C in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs755691060Ensembl.1
Natural variantiVAR_012502100S → P in STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 1 PublicationCorresponds to variant dbSNP:rs61748530EnsemblClinVar.1
Natural variantiVAR_084843108D → V in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_084844143P → L in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs62646860EnsemblClinVar.1
Natural variantiVAR_012503152R → Q in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs62646862EnsemblClinVar.1
Natural variantiVAR_012504156I → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs62646863EnsemblClinVar.1
Natural variantiVAR_084845172G → S in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61748532EnsemblClinVar.1
Natural variantiVAR_084846184S → F in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_084847184S → R in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_084848185 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST2089
Natural variantiVAR_012505190Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865397EnsemblClinVar.1
Natural variantiVAR_008405192A → T in STGD1. Corresponds to variant dbSNP:rs61748535EnsemblClinVar.1
Natural variantiVAR_012506206S → R in STGD1; reduced basal and retinal-stimulated ATP-hydrolysis. 1 PublicationCorresponds to variant dbSNP:rs61748536EnsemblClinVar.1
Natural variantiVAR_008406212R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 11 PublicationsCorresponds to variant dbSNP:rs61750200EnsemblClinVar.1
Natural variantiVAR_012507212R → H in STGD1. 6 PublicationsCorresponds to variant dbSNP:rs6657239EnsemblClinVar.1
Natural variantiVAR_012508220R → C in STGD1. Corresponds to variant dbSNP:rs61748538EnsemblClinVar.1
Natural variantiVAR_084851223K → Q in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs147619585EnsemblClinVar.1
Natural variantiVAR_012509230C → S in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs1057518767EnsemblClinVar.1
Natural variantiVAR_084852240I → R in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1553195472EnsemblClinVar.1
Natural variantiVAR_085010241E → D in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012510244L → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs62646864EnsemblClinVar.1
Natural variantiVAR_084853245 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST2029
Natural variantiVAR_084854246A → T in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012511247N → S in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs62645950EnsemblClinVar.1
Natural variantiVAR_008407249D → G in STGD1. Corresponds to variant dbSNP:rs62646865EnsemblClinVar.1
Natural variantiVAR_085011290R → W in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs781716640EnsemblClinVar.1
Natural variantiVAR_084855291P → L in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs190540405EnsemblClinVar.1
Natural variantiVAR_008408300T → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748544EnsemblClinVar.1
Natural variantiVAR_012512309P → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748545EnsemblClinVar.1
Natural variantiVAR_084857326 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs747540967Add BLAST1948
Natural variantiVAR_012513328E → V in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61751419EnsemblClinVar.1
Natural variantiVAR_012514333R → W in STGD1. Corresponds to variant dbSNP:rs61748546EnsemblClinVar.1
Natural variantiVAR_008409336S → C in STGD1. Corresponds to variant dbSNP:rs61748547EnsemblClinVar.1
Natural variantiVAR_008410340Y → D in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748548EnsemblClinVar.1
Natural variantiVAR_084859345Y → S in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012516380N → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748549EnsemblClinVar.1
Natural variantiVAR_008411407A → V in STGD1 and CORD3. 1 PublicationCorresponds to variant dbSNP:rs61751264EnsemblClinVar.1
Natural variantiVAR_084860410I → T in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_084861415N → K in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_084862418F → S in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs794726979EnsemblClinVar.1
Natural variantiVAR_085012424V → A in STGD1 and RP19; unknown pathological significance. 1 Publication1
Natural variantiVAR_084863431 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1843
Natural variantiVAR_008412445S → R in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748552EnsemblClinVar.1
Natural variantiVAR_008413471E → K in ARMD2 and STGD1; unknown pathological significance; ATP-binding capacity and retinal stimulation as in wild-type. 3 PublicationsCorresponds to variant dbSNP:rs1800548EnsemblClinVar.1
Natural variantiVAR_084866498D → E in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_084867508R → C in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs138157885EnsemblClinVar.1
Natural variantiVAR_084868511R → C in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752786160EnsemblClinVar.1
Natural variantiVAR_084869519C → R in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1224959251Ensembl.1
Natural variantiVAR_008414523D → E in STGD1. Corresponds to variant dbSNP:rs62646868EnsemblClinVar.1
Natural variantiVAR_012518525F → C in STGD1. 1 Publication1
Natural variantiVAR_084870533 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1741
Natural variantiVAR_012519537R → C in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61748556EnsemblClinVar.1
Natural variantiVAR_008415541L → P in STGD1, FFM and CORD3; reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis; does not affect solubility; does not affect intracellular vesicle localization; significantly reduces substrate binding; drastically reduces basal ATPase activity with little or no substrate stimulation. 10 PublicationsCorresponds to variant dbSNP:rs61751392EnsemblClinVar.1
Natural variantiVAR_084871548W → R in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012520549A → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748557EnsemblClinVar.1
Natural variantiVAR_012521550G → R in STGD1. 4 PublicationsCorresponds to variant dbSNP:rs61748558EnsemblClinVar.1
Natural variantiVAR_084872572 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1702
Natural variantiVAR_008416572R → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61748559EnsemblClinVar.1
Natural variantiVAR_008417572R → Q in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61748559EnsemblClinVar.1
Natural variantiVAR_084874593P → L in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012523602R → Q in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749410EnsemblClinVar.1
Natural variantiVAR_008418602R → W in STGD1. 5 PublicationsCorresponds to variant dbSNP:rs61749409EnsemblClinVar.1
Natural variantiVAR_084875603Y → C in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012524607G → R in STGD1. 5 PublicationsCorresponds to variant dbSNP:rs61749412EnsemblClinVar.1
Natural variantiVAR_012525607G → W in STGD1. Corresponds to variant dbSNP:rs61749412EnsemblClinVar.1
Natural variantiVAR_008419608F → I in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 1 PublicationCorresponds to variant dbSNP:rs61752398EnsemblClinVar.1
Natural variantiVAR_084877616E → K in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1557787473EnsemblClinVar.1
Natural variantiVAR_012526635Q → K in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749414EnsemblClinVar.1
Natural variantiVAR_012527636Q → H in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61752400EnsemblClinVar.1
Natural variantiVAR_084879639 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1635
Natural variantiVAR_085013640P → L in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs760790294EnsemblClinVar.1
Natural variantiVAR_084880641C → S in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61749416EnsemblClinVar.1
Natural variantiVAR_012528643V → M in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs61749417EnsemblClinVar.1
Natural variantiVAR_008421645D → N in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749418EnsemblClinVar.1
Natural variantiVAR_012529653R → C in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding. 6 PublicationsCorresponds to variant dbSNP:rs61749420EnsemblClinVar.1
Natural variantiVAR_084881653R → H in STGD1; unknown pathological significance; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; very low substrate binding. 3 PublicationsCorresponds to variant dbSNP:rs141823837EnsemblClinVar.1
Natural variantiVAR_012530686L → S in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding. 2 PublicationsCorresponds to variant dbSNP:rs61752402EnsemblClinVar.1
Natural variantiVAR_084884690G → V in STGD1; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization; very low substrate binding. 3 Publications1
Natural variantiVAR_084885700 – 2273Missing in STGD1; unknown pathological significance. 2 PublicationsAdd BLAST1574
Natural variantiVAR_012531716T → M in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%. 1 PublicationCorresponds to variant dbSNP:rs61749426EnsemblClinVar.1
Natural variantiVAR_084886754F → S in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012532764C → Y in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%. 2 PublicationsCorresponds to variant dbSNP:rs61749428EnsemblClinVar.1
Natural variantiVAR_012534765S → N in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding. 1 PublicationCorresponds to variant dbSNP:rs61749429EnsemblClinVar.1
Natural variantiVAR_012533765S → R in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding. 2 PublicationsCorresponds to variant dbSNP:rs61752404EnsemblClinVar.1
Natural variantiVAR_012535767V → D in STGD1; also found in a patient with macular dystrophy; severely decreases solubility; loss of cytoplasmic vesicle localization; decreases basal ATPase activity below 50%; severely decreases N-Ret-PE-stimulated ATPase activity; very low substrate binding. 8 PublicationsCorresponds to variant dbSNP:rs61751395EnsemblClinVar.1
Natural variantiVAR_085014779 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1495
Natural variantiVAR_084887782 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1492
Natural variantiVAR_012536797L → P in STGD1; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding. 2 PublicationsCorresponds to variant dbSNP:rs61749432EnsemblClinVar.1
Natural variantiVAR_084888808 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1466
Natural variantiVAR_084889816G → V in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_008422818G → E in ARMD2 and STGD1; reduced ATP-binding capacity; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding. 2 PublicationsCorresponds to variant dbSNP:rs61750202EnsemblClinVar.1
Natural variantiVAR_008423821W → R in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding. 4 PublicationsCorresponds to variant dbSNP:rs61749433EnsemblClinVar.1
Natural variantiVAR_012537824I → T in STGD1; moderately decreases solubility; loss of cytoplasmic vesicle localization; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; very low substrate binding. 2 Publications1
Natural variantiVAR_084890840M → R in STGD1; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding. 2 Publications1
Natural variantiVAR_012538849V → A in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; does not affect both basal and N-Ret-PE-stimulated ATPase activity; decreases N-Ret-PE binding in the range of 40-70%. 2 PublicationsCorresponds to variant dbSNP:rs61749435EnsemblClinVar.1
Natural variantiVAR_008424851G → D in STGD1; highly reduced ATP-binding capacity; severely decreases solubility; loss of cytoplasmic vesicle localization;decreases basal ATPase activity below 50%; loss of N-Ret-PE-induced stimulation in ATPase activity; very low substrate binding. 1 PublicationCorresponds to variant dbSNP:rs61749436EnsemblClinVar.1
Natural variantiVAR_012539854A → T in STGD1; does not affect solubility; does not affect location in cytoplasmic vesicle; decreases ATPase activity between 50% and 80%; decreases modestly N-Ret-PE-stimulated ATPase; decreases N-Ret-PE binding in the range of 40-70%. 1 PublicationCorresponds to variant dbSNP:rs61749437EnsemblClinVar.1
Natural variantiVAR_008425863G → A in STGD1, FFM and CORD3; also found in a patient with bull's eye maculopathy; 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; significantly attenuates 11-cis-retinal binding; decreases about 80% the N-retinylidene-phosphatidylethanolamine transport activity; stimulates modestely the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding. Does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity. 13 PublicationsCorresponds to variant dbSNP:rs76157638EnsemblClinVar.1
Natural variantiVAR_012540863Missing in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 2 Publications1
Natural variantiVAR_012541873F → L in STGD1. Corresponds to variant dbSNP:rs62642570EnsemblClinVar.1
Natural variantiVAR_084891876 – 2273Missing in STGD1; unknown pathological significance. 1 PublicationAdd BLAST1398
Natural variantiVAR_012542897T → I in STGD1. 3 PublicationsCorresponds to variant dbSNP:rs61749440EnsemblClinVar.1
Natural variantiVAR_008427931V → M in STGD1. 2 PublicationsCorresponds to variant dbSNP:rs58331765EnsemblClinVar.1
Natural variantiVAR_012544935V → A in STGD1. 1 PublicationCorresponds to variant dbSNP:rs61749444EnsemblClinVar.1
Natural variantiVAR_008428943R → Q in linkage disequilibrium with A-863 in the European population and STGD1; found in a patient with macular dystrophy; unknown pathological significance; decreases 11-cis-Retinal binding affinity by 100-fold. 14 PublicationsCorresponds to variant dbSNP:rs1801581EnsemblClinVar.1
Natural variantiVAR_012545943R → W in STGD1 and FFM. 2 PublicationsCorresponds to variant dbSNP:rs61749446EnsemblClinVar.1
Natural variantiVAR_084892954Y → D in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61749447EnsemblClinVar.1
Natural variantiVAR_008429957Q → R in STGD1. Corresponds to variant dbSNP:rs61749448EnsemblClinVar.1
Natural variantiVAR_012546959T → I in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 2 PublicationsCorresponds to variant dbSNP:rs61752409EnsemblClinVar.1
Natural variantiVAR_008430965N → S in STGD1; reduced retinal-stimulated ATP hydrolysis; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity; decreases about 60% the N-retinylidene-phosphatidylethanolamine transfer activity; stimulates modestly the retinal-stimulated ATPase activity; does not affect ATP-independent N-retinylidene-phosphatidylethanolamine binding; does not affect ATP-dependent release of N-retinylidene-phosphatidylethanolamine; significantly reduces phosphatidylethanolamine flippase activity. 8 PublicationsCorresponds to variant dbSNP:rs201471607EnsemblClinVar.1
Natural variantiVAR_084893965N → Y in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_084894970T → P in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1570377849Ensembl.1
Natural variantiVAR_012547971T → N in STGD1; highly reduced ATP-binding capacity; abolishes retinal-stimulated ATP hydrolysis. Corresponds to variant dbSNP:rs61749450EnsemblClinVar.1
Natural variantiVAR_012548972T → N in STGD1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs61749451EnsemblClinVar.1
Natural variantiVAR_084895973L → S in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_012549974S → P in STGD1. 1 PublicationCorresponds to variant dbSNP:rs281865400EnsemblClinVar.1
Natural variantiVAR_084896977T → P in STGD1; unknown pathological significance. 1 Publication1
Natural variantiVAR_008431978G → C in STGD1. Corresponds to variant dbSNP:rs61749452EnsemblClinVar.1
Natural variantiVAR_084897978G → D in STGD1; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61749453EnsemblClinVar.1
Natural variantiVAR_012550989V → A in STGD1. 2 Publications