UniProtKB - P78363 (ABCA4_HUMAN)
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>sp|P78363|ABCA4_HUMAN Retinal-specific phospholipid-transporting ATPase ABCA4 OS=Homo sapiens OX=9606 GN=ABCA4 PE=1 SV=3 MGFVRQIQLLLWKNWTLRKRQKIRFVVELVWPLSLFLVLIWLRNANPLYSHHECHFPNKA MPSAGMLPWLQGIFCNVNNPCFQSPTPGESPGIVSNYNNSILARVYRDFQELLMNAPESQ HLGRIWTELHILSQFMDTLRTHPERIAGRGIRIRDILKDEETLTLFLIKNIGLSDSVVYL LINSQVRPEQFAHGVPDLALKDIACSEALLERFIIFSQRRGAKTVRYALCSLSQGTLQWI EDTLYANVDFFKLFRVLPTLLDSRSQGINLRSWGGILSDMSPRIQEFIHRPSMQDLLWVT RPLMQNGGPETFTKLMGILSDLLCGYPEGGGSRVLSFNWYEDNNYKAFLGIDSTRKDPIY SYDRRTTSFCNALIQSLESNPLTKIAWRAAKPLLMGKILYTPDSPAARRILKNANSTFEE LEHVRKLVKAWEEVGPQIWYFFDNSTQMNMIRDTLGNPTVKDFLNRQLGEEGITAEAILN FLYKGPRESQADDMANFDWRDIFNITDRTLRLVNQYLECLVLDKFESYNDETQLTQRALS LLEENMFWAGVVFPDMYPWTSSLPPHVKYKIRMDIDVVEKTNKIKDRYWDSGPRADPVED FRYIWGGFAYLQDMVEQGITRSQVQAEAPVGIYLQQMPYPCFVDDSFMIILNRCFPIFMV LAWIYSVSMTVKSIVLEKELRLKETLKNQGVSNAVIWCTWFLDSFSIMSMSIFLLTIFIM HGRILHYSDPFILFLFLLAFSTATIMLCFLLSTFFSKASLAAACSGVIYFTLYLPHILCF AWQDRMTAELKKAVSLLSPVAFGFGTEYLVRFEEQGLGLQWSNIGNSPTEGDEFSFLLSM QMMLLDAAVYGLLAWYLDQVFPGDYGTPLPWYFLLQESYWLGGEGCSTREERALEKTEPL TEETEDPEHPEGIHDSFFEREHPGWVPGVCVKNLVKIFEPCGRPAVDRLNITFYENQITA FLGHNGAGKTTTLSILTGLLPPTSGTVLVGGRDIETSLDAVRQSLGMCPQHNILFHHLTV AEHMLFYAQLKGKSQEEAQLEMEAMLEDTGLHHKRNEEAQDLSGGMQRKLSVAIAFVGDA KVVILDEPTSGVDPYSRRSIWDLLLKYRSGRTIIMSTHHMDEADLLGDRIAIIAQGRLYC SGTPLFLKNCFGTGLYLTLVRKMKNIQSQRKGSEGTCSCSSKGFSTTCPAHVDDLTPEQV LDGDVNELMDVVLHHVPEAKLVECIGQELIFLLPNKNFKHRAYASLFRELEETLADLGLS SFGISDTPLEEIFLKVTEDSDSGPLFAGGAQQKRENVNPRHPCLGPREKAGQTPQDSNVC SPGAPAAHPEGQPPPEPECPGPQLNTGTQLVLQHVQALLVKRFQHTIRSHKDFLAQIVLP ATFVFLALMLSIVIPPFGEYPALTLHPWIYGQQYTFFSMDEPGSEQFTVLADVLLNKPGF GNRCLKEGWLPEYPCGNSTPWKTPSVSPNITQLFQKQKWTQVNPSPSCRCSTREKLTMLP ECPEGAGGLPPPQRTQRSTEILQDLTDRNISDFLVKTYPALIRSSLKSKFWVNEQRYGGI SIGGKLPVVPITGEALVGFLSDLGRIMNVSGGPITREASKEIPDFLKHLETEDNIKVWFN NKGWHALVSFLNVAHNAILRASLPKDRSPEEYGITVISQPLNLTKEQLSEITVLTTSVDA VVAICVIFSMSFVPASFVLYLIQERVNKSKHLQFISGVSPTTYWVTNFLWDIMNYSVSAG LVVGIFIGFQKKAYTSPENLPALVALLLLYGWAVIPMMYPASFLFDVPSTAYVALSCANL FIGINSSAITFILELFENNRTLLRFNAVLRKLLIVFPHFCLGRGLIDLALSQAVTDVYAR FGEEHSANPFHWDLIGKNLFAMVVEGVVYFLLTLLVQRHFFLSQWIAEPTKEPIVDEDDD VAEERQRIITGGNKTDILRLHELTKIYPGTSSPAVDRLCVGVRPGECFGLLGVNGAGKTT TFKMLTGDTTVTSGDATVAGKSILTNISEVHQNMGYCPQFDAIDELLTGREHLYLYARLR GVPAEEIEKVANWSIKSLGLTVYADCLAGTYSGGNKRKLSTAIALIGCPPLVLLDEPTTG MDPQARRMLWNVIVSIIREGRAVVLTSHSMEECEALCTRLAIMVKGAFRCMGTIQHLKSK FGDGYIVTMKIKSPKDDLLPDLNPVEQFFQGNFPGSVQRERHYNMLQFQVSSSSLARIFQ LLLSHKDSLLIEEYSVTQTTLDQVFVNFAKQQTESHDLPLHPRAAGASRQAQDCommunity curation ()Add a publicationFeedback
Retinal-specific phospholipid-transporting ATPase ABCA4
ABCA4
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>Select a section on the left to see content.
<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 similarity<p>Manually curated information which has been propagated from a related experimentally characterized protein.</p> <p><a href="/manual/evidences#ECO:0000250">More...</a></p> Manual assertion inferred from sequence similarity toi
7 Publications<p>Manually curated information for which there is published experimental evidence.</p> <p><a href="/manual/evidences#ECO:0000269">More...</a></p> Manual assertion based on experiment ini
- Ref.8"Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease."
Sun H., Molday R.S., Nathans J.
J. Biol. Chem. 274:8269-8281(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION. - Ref.11"Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal."
Biswas-Fiss E.E., Kurpad D.S., Joshi K., Biswas S.B.
J. Biol. Chem. 285:19372-19383(2010) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, VARIANTS STGD1 LEU-1408; HIS-1443 AND ARG-1488, CHARACTERIZATION OF VARIANTS STGD1 LEU-1408; HIS-1443 AND ARG-1488. - Ref.12"Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4."
Biswas-Fiss E.E., Affet S., Ha M., Biswas S.B.
J. Biol. Chem. 287:44097-44107(2012) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, VARIANT STGD1 ALA-863, CHARACTERIZATION OF VARIANT STGD1 ALA-863, MUTAGENESIS OF PRO-940, VARIANT GLN-943. - Ref.13"ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer."
Quazi F., Lenevich S., Molday R.S.
Nat. Commun. 3:925-925(2012) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF LYS-969 AND LYS-1978, VARIANTS STGD1 ALA-863 AND SER-965, CHARACTERIZATION OF VARIANTS STGD1 ALA-863 AND SER-965. - Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180. - Ref.50"Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease."
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, MUTAGENESIS OF ALA-1357, FUNCTION, SUBCELLULAR LOCATION. - Ref.52"Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration."
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898, CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898, MUTAGENESIS OF HIS-1838.
<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
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Manual assertion based on experiment ini
- Ref.13"ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer."
Quazi F., Lenevich S., Molday R.S.
Nat. Commun. 3:925-925(2012) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF LYS-969 AND LYS-1978, VARIANTS STGD1 ALA-863 AND SER-965, CHARACTERIZATION OF VARIANTS STGD1 ALA-863 AND SER-965.
This reaction proceeds in the forward- Search for this reaction in UniProtKB.
- See the description of this reaction in Rhea.
<p>Manually curated information which has been inferred by a curator based on his/her scientific knowledge or on the scientific content of an article.</p> <p><a href="/manual/evidences#ECO:0000305">More...</a></p> Manual assertion inferred by curator fromi
- Ref.13"ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer."
Quazi F., Lenevich S., Molday R.S.
Nat. Commun. 3:925-925(2012) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF LYS-969 AND LYS-1978, VARIANTS STGD1 ALA-863 AND SER-965, CHARACTERIZATION OF VARIANTS STGD1 ALA-863 AND SER-965.
Source: Rhea- Search for this reaction in UniProtKB.
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ATP- Search proteins in UniProtKB for this molecule.
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+H2O- Search proteins in UniProtKB for this molecule.
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+N-all-trans-retinylidenephosphatidylethanolamine- Search proteins in UniProtKB for this molecule.
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+N-all-trans-retinylidenephosphatidylethanolamine- Search proteins in UniProtKB for this molecule.
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- a 1,2-diacyl-sn-glycero-3-phosphoethanolamine
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Manual assertion based on experiment ini
- Ref.13"ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer."
Quazi F., Lenevich S., Molday R.S.
Nat. Commun. 3:925-925(2012) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF LYS-969 AND LYS-1978, VARIANTS STGD1 ALA-863 AND SER-965, CHARACTERIZATION OF VARIANTS STGD1 ALA-863 AND SER-965. - Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
This reaction proceeds in the forward- Search for this reaction in UniProtKB.
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Manual assertion inferred by curator fromi
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
Source: Rhea- Search for this reaction in UniProtKB.
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a 1,2-diacyl-sn-glycero-3-phosphoethanolamine- Search proteins in UniProtKB for this molecule.
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=a 1,2-diacyl-sn-glycero-3-phosphoethanolamine- Search proteins in UniProtKB for this molecule.
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- ATP
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Manual assertion inferred from sequence similarity toi
This reaction proceeds in the forward- Search for this reaction in UniProtKB.
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Manual assertion inferred from sequence similarity toi
direction.Source: Rhea- Search for this reaction in UniProtKB.
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ATP- Search proteins in UniProtKB for this molecule.
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+N-11-cis-retinylidenephosphatidylethanolamine- Search proteins in UniProtKB for this molecule.
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- ATP + H(2)O + phospholipid(Side 1) = ADP + phosphate + phospholipid(Side 2).1 Publication
Manual assertion based on experiment ini
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
<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
Manual assertion based on experiment ini
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
<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
- KM=80 µM for ATP1 Publication
Manual assertion based on experiment ini
- Ref.16"Molecular structures of the eukaryotic retinal importer ABCA4."
Liu F., Lee J., Chen J.
Elife 10:0-0(2021) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY ELECTRON MICROSCOPY (3.27 ANGSTROMS) IN COMPLEX WITH ATP, MUTAGENESIS OF GLU-1087 AND GLU-2096, BIOPHYSICOCHEMICAL PROPERTIES, DISULFIDE BOND, GLYCOSYLATION AT ASN-98; ASN-415; ASN-444; ASN-504; ASN-1469; ASN-1529; ASN-1588 AND ASN-1662, ATP BINDING SITE.
- Vmax=112.5 nmol/min/mg enzyme (for ATP hydrolysis)1 Publication
Manual assertion based on experiment ini
- Ref.16"Molecular structures of the eukaryotic retinal importer ABCA4."
Liu F., Lee J., Chen J.
Elife 10:0-0(2021) [PubMed] [Europe PMC] [Abstract]Cited for: STRUCTURE BY ELECTRON MICROSCOPY (3.27 ANGSTROMS) IN COMPLEX WITH ATP, MUTAGENESIS OF GLU-1087 AND GLU-2096, BIOPHYSICOCHEMICAL PROPERTIES, DISULFIDE BOND, GLYCOSYLATION AT ASN-98; ASN-415; ASN-444; ASN-504; ASN-1469; ASN-1529; ASN-1588 AND ASN-1662, ATP BINDING SITE.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
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<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 sitei | 1054 | ATPCombined sources <p>Manually validated information inferred from a combination of experimental and computational evidence.</p> <p><a href="/manual/evidences#ECO:0007744">More...</a></p> Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
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<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 bindingi | 963 – 970 | ATPPROSITE-ProRule annotation <p>Manual validated information which has been generated by the UniProtKB automatic annotation system.</p> <p><a href="/manual/evidences#ECO:0000255">More...</a></p> Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 8 | |
Nucleotide bindingi | 1972 – 1980 | ATPPROSITE-ProRule annotation Manual assertion according to rulesi Combined sourcesManual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 9 | |
Nucleotide bindingi | 2073 – 2074 | ATPCombined sources Manual assertion inferred from combination of experimental and computational evidencei 1 PublicationManual assertion based on experiment ini
| 2 |
<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
- 11-cis retinal binding Source: UniProtKB
<p>Inferred from Direct Assay</p>
<p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#ida">GO evidence code guide</a></p>
Inferred from direct assayi
- Ref.12"Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4."
Biswas-Fiss E.E., Affet S., Ha M., Biswas S.B.
J. Biol. Chem. 287:44097-44107(2012) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, VARIANT STGD1 ALA-863, CHARACTERIZATION OF VARIANT STGD1 ALA-863, MUTAGENESIS OF PRO-940, VARIANT GLN-943.
- ABC-type transporter activity Source: InterPro
- all-trans retinal binding Source: UniProtKBInferred from direct assayi
- Ref.11"Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal."
Biswas-Fiss E.E., Kurpad D.S., Joshi K., Biswas S.B.
J. Biol. Chem. 285:19372-19383(2010) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, VARIANTS STGD1 LEU-1408; HIS-1443 AND ARG-1488, CHARACTERIZATION OF VARIANTS STGD1 LEU-1408; HIS-1443 AND ARG-1488. - Ref.50"Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease."
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, MUTAGENESIS OF ALA-1357, FUNCTION, SUBCELLULAR LOCATION. - Ref.52"Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration."
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898, CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898, MUTAGENESIS OF HIS-1838.
- ATPase-coupled intramembrane lipid transporter activity Source: GO_Central
<p>Inferred from Biological aspect of Ancestor</p>
<p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iba">GO evidence code guide</a></p>
Inferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- ATPase-coupled transmembrane transporter activity Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- ATP binding Source: ProtInc
<p>Traceable Author Statement</p>
<p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p>
<p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p>
Traceable author statementi
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817.
- ATP hydrolysis activity Source: UniProtKBInferred from direct assayi
- Ref.50"Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease."
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, MUTAGENESIS OF ALA-1357, FUNCTION, SUBCELLULAR LOCATION. - Ref.52"Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration."
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898, CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898, MUTAGENESIS OF HIS-1838.
- flippase activity Source: UniProtKBInferred from direct assayi
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- GTPase activity Source: UniProtKB
- lipid transporter activity Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- N-retinylidene-phosphatidylethanolamine flippase activity Source: UniProtKB
- phosphatidylethanolamine flippase activity Source: BHF-UCLInferred from direct assayi
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- phospholipid transporter activity Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- retinoid binding Source: UniProtKB
- retinol transmembrane transporter activity Source: Reactome
- transporter activity Source: ProtIncTraceable author statementi
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817.
GO - Biological processi
- lipid transport Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- phospholipid transfer to membrane Source: Ensembl
- phospholipid translocation Source: BHF-UCLInferred from direct assayi
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- photoreceptor cell maintenance Source: Ensembl
- phototransduction, visible light Source: ProtIncTraceable author statementi
- Ref.2"The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)."
Azarian S.M., Travis G.H.
FEBS Lett. 409:247-252(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA].
- retinal metabolic process Source: UniProtKBInferred from direct assayi
- Ref.50"Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease."
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, MUTAGENESIS OF ALA-1357, FUNCTION, SUBCELLULAR LOCATION. - Ref.52"Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration."
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898, CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898, MUTAGENESIS OF HIS-1838.
- retinoid metabolic process Source: UniProtKB
- transmembrane transport Source: Reactome
- visual perception Source: ProtIncTraceable author statementi
- "Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR."
Martinez-Mir A., Paloma E., Allikmets R., Ayuso C., del Rio T., Dean M., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Nat Genet 18:11-12(1998) [PubMed] [Europe PMC] [Abstract]
<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 function | Translocase |
Biological process | Sensory transduction, Transport, Vision |
Ligand | ATP-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:7.6.2.1
Manual assertion based on experiment ini
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 <p>Manually validated information which has been imported from another database.</p> <p><a href="/manual/evidences#ECO:0000312">More...</a></p> Manual assertion inferred from database entriesi Synonyms:ABCR1 Publication <p>Manually curated information that is based on statements in scientific articles for which there is no experimental support.</p> <p><a href="/manual/evidences#ECO:0000303">More...</a></p> Manual assertion based on opinion ini
|
<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>Organismi | Homo 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 identifieri | 9606 [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 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 |
<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 |
|
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
Endoplasmic reticulum
- Endoplasmic reticulum 1 Publication
Manual assertion based on experiment ini
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- Endoplasmic reticulum 1 Publication
Other locations
- Membrane 1 Publication
Manual assertion based on experiment ini
- Ref.8"Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease."
Sun H., Molday R.S., Nathans J.
J. Biol. Chem. 274:8269-8281(1999) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION.
- Cytoplasmic vesicle 2 Publications
Manual assertion based on experiment ini
- Ref.50"Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease."
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, MUTAGENESIS OF ALA-1357, FUNCTION, SUBCELLULAR LOCATION. - Ref.52"Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration."
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898, CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898, MUTAGENESIS OF HIS-1838.
- photoreceptor outer segment By similarity
Manual assertion inferred from sequence similarity toi
Note: Localized to the rim and incisures of rod outer segments disks.By similarity- Membrane 1 Publication
Manual assertion inferred from sequence similarity toi
Endoplasmic reticulum
- endoplasmic reticulum Source: UniProtKBInferred from direct assayi
- Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180.
- endoplasmic reticulum Source: UniProtKBInferred from direct assayi
Plasma Membrane
- integral component of plasma membrane Source: InterPro
Other locations
- cytoplasmic vesicle Source: UniProtKBInferred from direct assayi
- Ref.50"Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease."
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, MUTAGENESIS OF ALA-1357, FUNCTION, SUBCELLULAR LOCATION. - Ref.52"Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration."
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898, CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898, MUTAGENESIS OF HIS-1838.
- intracellular membrane-bounded organelle Source: GO_CentralInferred from biological aspect of ancestori
- "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
- membrane Source: ProtIncTraceable author statementi
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817.
- photoreceptor disc membrane Source: Reactome
- photoreceptor outer segment Source: UniProtKB
- rod photoreceptor disc membrane Source: UniProtKB
- cytoplasmic vesicle Source: UniProtKBInferred from direct assayi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
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<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 domaini | 1 – 21 | CytoplasmicCuratedAdd BLAST | 21 | |
<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>Transmembranei | 22 – 42 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 43 – 646 | Extracellular1 Publication Manual assertion based on experiment ini
| 604 | |
Transmembranei | 647 – 667 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 668 – 699 | CytoplasmicCuratedAdd BLAST | 32 | |
Transmembranei | 700 – 720 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 721 – 730 | ExtracellularCurated | 10 | |
Transmembranei | 731 – 751 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 752 – 759 | CytoplasmicCurated | 8 | |
Transmembranei | 760 – 780 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 781 – 835 | ExtracellularCuratedAdd BLAST | 55 | |
Transmembranei | 836 – 856 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 857 – 1376 | CytoplasmicCuratedAdd BLAST | 520 | |
Transmembranei | 1377 – 1397 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1398 – 1727 | Extracellular1 Publication Manual assertion based on experiment ini
| 330 | |
Transmembranei | 1728 – 1748 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1749 – 1759 | CytoplasmicCuratedAdd BLAST | 11 | |
Transmembranei | 1760 – 1780 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1781 – 1792 | ExtracellularCuratedAdd BLAST | 12 | |
Transmembranei | 1793 – 1813 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1814 – 1831 | CytoplasmicCuratedAdd BLAST | 18 | |
Transmembranei | 1832 – 1852 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1853 – 1873 | ExtracellularCuratedAdd BLAST | 21 | |
Transmembranei | 1874 – 1894 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 1895 – 2273 | CytoplasmicCuratedAdd BLAST | 379 |
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 PublicationsManual assertion based on experiment ini
- Ref.1"A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy."
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1, VARIANTS HIS-846; GLN-943 AND ASP-1817. - Ref.3"Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease."
Gerber S., Rozet J.-M., van de Pol T.J.R., Hoyng C.B., Munnich A., Blankenagel A., Kaplan J., Cremers F.P.M.
Genomics 48:139-142(1998) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS STGD1 TRP-18 AND CYS-212, VARIANT ASP-1817. - Ref.4"Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease."
Nasonkin I., Illing M., Koehler M.R., Schmid M., Molday R.S., Weber B.H.F.
Hum. Genet. 102:21-26(1998) [PubMed] [Europe PMC] [Abstract]Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS STGD1. - Ref.11"Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal."
Biswas-Fiss E.E., Kurpad D.S., Joshi K., Biswas S.B.
J. Biol. Chem. 285:19372-19383(2010) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, VARIANTS STGD1 LEU-1408; HIS-1443 AND ARG-1488, CHARACTERIZATION OF VARIANTS STGD1 LEU-1408; HIS-1443 AND ARG-1488. - Ref.12"Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4."
Biswas-Fiss E.E., Affet S., Ha M., Biswas S.B.
J. Biol. Chem. 287:44097-44107(2012) [PubMed] [Europe PMC] [Abstract]Cited for: DOMAIN, FUNCTION, VARIANT STGD1 ALA-863, CHARACTERIZATION OF VARIANT STGD1 ALA-863, MUTAGENESIS OF PRO-940, VARIANT GLN-943. - Ref.13"ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer."
Quazi F., Lenevich S., Molday R.S.
Nat. Commun. 3:925-925(2012) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF LYS-969 AND LYS-1978, VARIANTS STGD1 ALA-863 AND SER-965, CHARACTERIZATION OF VARIANTS STGD1 ALA-863 AND SER-965. - Ref.14"Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants."
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]Cited for: CATALYTIC ACTIVITY, ACTIVITY REGULATION, FUNCTION, SUBCELLULAR LOCATION, VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, CHARACTERIZATION OF VARIANTS STGD1 PRO-100; ILE-608; ILE-959; SER-965 AND MET-1537, MUTAGENESIS OF CYS-1502; ARG-2107 AND PRO-2180. - Ref.18"Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies."
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 TRP-18; CYS-212; HIS-636; MET-1019; VAL-1038; CYS-1108; TRP-1640; SER-1977 AND HIS-2107, VARIANTS FFM PRO-11; PRO-541; VAL-1038; GLU-1091; CYS-1508; PHE-1970 AND ARG-1971. - Ref.19"Genotype/phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease."
Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., Dean M.
Am. J. Hum. Genet. 64:422-434(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1. - Ref.20"The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the western European population and allows the classification of ABCR Mutations in patients with Stargardt disease."
Maugeri A., van Driel M.A., van de Pol D.J.R., Klevering B.J., van Haren F.J.J., Tijmes N., Bergen A.A.B., Rohrschneider K., Blankenagel A., Pinckers A.J.L.G., Dahl N., Brunner H.G., Deutman A.F., Hoyng C.B., Cremers F.P.M.
Am. J. Hum. Genet. 64:1024-1035(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1, VARIANTS. - Ref.21"A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease."
Zhang K., Garibaldi D.C., Kniazeva M., Albini T., Chiang M.F., Kerrigan M., Sunness J.S., Han M., Allikmets R.
Am. J. Ophthalmol. 128:720-724(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT STGD1 TYR-54, VARIANT ALA-863. - Ref.22"Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene."
Fishman G.A., Stone E.M., Grover S., Derlacki D.J., Haines H.L., Hockey R.R.
Arch. Ophthalmol. 117:504-510(1999) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 VAL-60; ARG-206; ASN-300; PRO-541; ALA-849; PRO-974; VAL-1038; CYS-1108; LEU-1408; ARG-1488; ASP-1652; PRO-1729; GLU-1961; TRP-2038; TRP-2077; HIS-2107; ARG-2128 AND TYR-2150. - Ref.24"A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration."
Rivera A., White K., Stoehr H., Steiner K., Hemmrich N., Grimm T., Jurklies B., Lorenz B., Scholl H.P.N., Apfelstedt-Sylla E., Weber B.H.F.
Am. J. Hum. Genet. 67:800-813(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 GLU-60; THR-60; GLU-65; LEU-68; ARG-72; CYS-212; SER-230; SER-247; VAL-328; LYS-471; PRO-541; GLN-572; ARG-607; LYS-635; CYS-653; TYR-764; ARG-765; ALA-901; ILE-959; LYS-1036; VAL-1038; PRO-1063; ASP-1087; CYS-1097; CYS-1108; LEU-1380; LYS-1399; PRO-1430; VAL-1440; HIS-1443; LEU-1486; TYR-1488; MET-1537; PRO-1689; LEU-1705; THR-1733; ARG-1748; PRO-1763; LYS-1885; HIS-1898; GLU-1961; ARG-1975; SER-1977; GLY-2077; TRP-2077 AND VAL-2241, VARIANTS GLN-152; HIS-212; ARG-423; ILE-552; ARG-914; GLN-943; THR-1562; ILE-1868; MET-1921; LEU-1948; PHE-1970; ALA-2059; ASN-2177 AND VAL-2216. - Ref.26"Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance."
Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 106:244-248(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ASP-340; GLN-572; ALA-863; SER-965; VAL-1038; ALA-1780 AND HIS-1898, VARIANT GLN-943. - Ref.27"An analysis of ABCR mutations in British patients with recessive retinal dystrophies."
Papaioannou M., Ocaka L., Bessant D., Lois N., Bird A.C., Payne A., Bhattacharya S.S.
Invest. Ophthalmol. Vis. Sci. 41:16-19(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS GLN-943 AND SER-1948, VARIANTS STGD1 TYR-54; ASP-96; HIS-96; VAL-156; VAL-407; ALA-424; ARG-445; TRP-602; 779-CYS--ASP-2273 DEL; ALA-863; ALA-1429; TRP-1640; GLU-1703; 1779-TYR--ASP-2273 DEL AND ARG-2160, VARIANTS CORD3 VAL-407; 2030-ARG--ASP-2273 DEL AND TYR-2150, VARIANT RP19 ALA-424. - Ref.28"New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease."
Simonelli F., Testa F., de Crecchio G., Rinaldi E., Hutchinson A., Atkinson A., Dean M., D'Urso M., Allikmets R.
Invest. Ophthalmol. Vis. Sci. 41:892-897(2000) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 CYS-212; ASP-767; ILE-897; VAL-1038; LYS-1087; LYS-1399; GLN-1640 AND GLU-1961, VARIANT HIS-212. - Ref.30"Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)."
Eksandh L., Ekstroem U., Abrahamson M., Bauer B., Andreasson S.
Acta Ophthalmol. Scand. 79:524-530(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT STGD1 ASN-972, VARIANTS GLN-943; ILE-1868 AND LEU-1948. - Ref.34"Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies."
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 SER-686; TRP-1055; ASP-1799; ASP-1805; PRO-1940 AND HIS-2107, VARIANTS FFM MET-1253 AND PRO-1940, VARIANTS CORD3 CYS-212 AND ARG-2060, VARIANTS GLN-943; LEU-1948 AND ILE-2255. - Ref.35"An analysis of allelic variation in the ABCA4 gene."
Webster A.R., Heon E., Lotery A.J., Vandenburgh K., Casavant T.L., Oh K.T., Beck G., Fishman G.A., Lam B.L., Levin A., Heckenlively J.R., Jacobson S.G., Weleber R.G., Sheffield V.C., Stone E.M.
Invest. Ophthalmol. Vis. Sci. 42:1179-1189(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1, VARIANTS. - Ref.36"Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration."
Briggs C.E., Rucinski D., Rosenfeld P.J., Hirose T., Berson E.L., Dryja T.P.
Invest. Ophthalmol. Vis. Sci. 42:2229-2236(2001) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 13-LYS--TRP-15 DEL; TYR-54; LYS-58; VAL-60; GLU-65; GLU-77; HIS-190; PRO-244; ARG-309; CYS-525; CYS-537; PRO-541; PRO-549; ARG-550; GLN-602; ARG-607; MET-643; ASP-767; PRO-797; ARG-821; THR-824; ALA-863; ALA-935; TRP-943; ALA-989; VAL-1038; CYS-1108; LEU-1108; LYS-1122; ARG-1201; GLN-1300; LEU-1380; PRO-1388; ARG-1408; LEU-1486; ARG-1488; TYR-1490; MET-1526; ASN-1532; THR-1562; TRP-1640; LEU-1776; THR-1846; GLU-1961; SER-1977; PHE-2027; GLN-2030; PRO-2035; LEU-2050; CYS-2107; HIS-2107; TRP-2139; ARG-2150 AND TYR-2150, VARIANTS CORD3 GLN-1640 AND ASP-2146, VARIANTS HIS-212; ARG-423; GLN-943; THR-1637; ILE-1868 AND LEU-1948. - Ref.38"Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations."
Stenirri S., Fermo I., Battistella S., Galbiati S., Soriani N., Paroni R., Manitto M.P., Martina E., Brancato R., Allikmets R., Ferrari M., Cremonesi L.
Clin. Chem. 50:1336-1343(2004) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 TRP-18; LYS-96; VAL-108; LEU-143; GLN-152; HIS-212; GLN-223; SER-230; 245-TYR--ASP-2273 DEL; THR-246; GLU-498; PRO-541; ARG-550; GLN-572; 639-TYR--ASP-2273 DEL; SER-641; CYS-653; VAL-690; 700-TRP--ASP-2273 DEL; ASP-767; ARG-821; ALA-863; 876-GLN--ASP-2273 DEL; ILE-897; ASP-954; SER-965; ASP-978; LYS-1022; VAL-1038; ASP-1050; LYS-1087; CYS-1098; PRO-1099; CYS-1108; HIS-1108; LEU-1129; ARG-1203; ASP-1203; 1300-ARG--ASP-2273 DEL; GLN-1300; TYR-1490; ARG-1512; MET-1526; ASP-1598; 1652-TYR--ASP-2273 DEL; ASP-1762; ASN-1838; TYR-1838; GLU-1961; PHE-1970; PHE-2027; GLN-2030; LEU-2050; HIS-2107; TRP-2139; LEU-2149; TYR-2150; ASN-2177 AND VAL-2241, VARIANTS ARG-423; GLN-943; ASN-1204; LEU-1380; ILE-1868 AND LEU-1948. - Ref.41"Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease."
Riveiro-Alvarez R., Aguirre-Lamban J., Lopez-Martinez M.A., Trujillo-Tiebas M.J., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:1359-1364(2009) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 VAL-156; CYS-212; LYS-380; ARG-550; PRO-572; TRP-602; ARG-607; CYS-653; ASP-767; ILE-897; ALA-901; MET-931; SER-965; MET-1019; HIS-1108; LEU-1129; LEU-1380; ILE-1433; LEU-1486; TYR-1490; GLN-1640; TRP-1640; ARG-1748; ASP-1799; PRO-1940; GLU-1961; SER-1977; PHE-2027; ARG-2060; HIS-2107; TYR-2150 AND VAL-2241. - Ref.42"Novel mutations in of the ABCR gene in Italian patients with Stargardt disease."
Passerini I., Sodi A., Giambene B., Mariottini A., Menchini U., Torricelli F.
Eye 24:158-164(2010) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 21-GLN--ASP-2273 DEL; LEU-68; HIS-96; LYS-96; SER-172; CYS-212; LYS-415; PRO-541; 572-ARG--ASP-2273 DEL; LYS-616; CYS-653; VAL-690; 700-TRP--ASP-2273 DEL; ASP-767; ARG-821; ARG-840; MET-931; SER-965; PRO-970; PRO-977; ASP-978; MET-1019; VAL-1038; TRP-1055; GLU-1078; LYS-1087; CYS-1098; 1099-SER--ASP-2273 DEL; CYS-1108; 1177-CYS--ASP-2273 DEL; 1332-GLN--ASP-2273 DEL; LEU-1380; 1408-TRP--ASP-2273 DEL; ILE-1433; 1461-TRP--ASP-2273 DEL; 1479-TRP--ASP-2273 DEL; SER-1484; MET-1526; ASP-1598; ASN-1696; GLU-1961; PHE-1970; SER-1977; 2030-ARG--ASP-2273 DEL; LYS-2096; GLN-2140 AND PRO-2221. - Ref.44"Detection rate of pathogenic mutations in ABCA4 using direct sequencing: clinical and research implications."
Downes S.M., Packham E., Cranston T., Clouston P., Seller A., Nemeth A.H.
Arch. Ophthalmol. 130:1486-1490(2012) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS 219-ARG--ASP-2273 DEL; HIS-576; ARG-1488; MET-1526; CYS-1557; THR-1562; GLU-1773; ASP-1794; 2040-ARG--ASP-2273 DEL AND CYS-2107, VARIANTS STGD1 TYR-54; GLN-152; ARG-184; PHE-184; CYS-212; SER-418; LYS-471; MET-643; CYS-653; 782-TRP--ASP-2273 DEL; ALA-863; GLN-943; ALA-989; ARG-991; MET-1019; LYS-1022; SER-1097; CYS-1108; LYS-1122; LEU-1129; ARG-1201; LEU-1380; LYS-1442; LEU-1486; TYR-1490; ASP-1598; ASP-1754; THR-1846; GLU-1961; PHE-2027; GLN-2030; CYS-2106; LYS-2131; TYR-2150 AND PRO-2237. - Ref.45"ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation."
Chacon-Camacho O.F., Granillo-Alvarez M., Ayala-Ramirez R., Zenteno J.C.
Exp. Eye Res. 109:77-82(2013) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 TRP-18; HIS-24; 89-GLU--ASP-2273 DEL; CYS-212; ASP-241; TRP-290; TRP-602; GLU-818; SER-965; ARG-1014; LEU-1129; LEU-1380; PHE-1416 DEL; HIS-1443; TRP-1551 DEL; THR-1556; 1681-VAL--VAL-1685 DEL; GLN-1705; VAL-1773; ASN-1775; HIS-1779; ILE-1868; GLN-1942; VAL-2074 AND ARG-2128, VARIANTS GLN-943 AND ILE-2255. - Ref.46"Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy."
Ortube M.C., Strom S.P., Nelson S.F., Nusinowitz S., Martinez A., Gorin M.B.
BMC Med. Genet. 15:11-11(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANT STGD1 TRP-602. - Ref.47"Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease."
Miraldi Utz V., Coussa R.G., Marino M.J., Chappelow A.V., Pauer G.J., Hagstrom S.A., Traboulsi E.I.
Br. J. Ophthalmol. 98:513-518(2014) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 CYS-212; PRO-541; LEU-640; ASP-767; VAL-1038; CYS-1108; ARG-1408; GLN-1640; TRP-1640; ASP-1838; GLU-1961 AND HIS-2107. - Ref.48"An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients."
Bauwens M., De Zaeytijd J., Weisschuh N., Kohl S., Meire F., Dahan K., Depasse F., De Jaegere S., De Ravel T., De Rademaeker M., Loeys B., Coppieters F., Leroy B.P., De Baere E.
Hum. Mutat. 36:39-42(2015) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS CORD3 CYS-440; GLY-643; HIS-1145; GLU-1203; LEU-2050 AND ASN-2177, VARIANTS STGD1 HIS-24; GLU-65; SER-247; 431-TRP--ASP-2273 DEL; PRO-541; ARG-607; HIS-653; ALA-863; 1029-GLN--ASP-2273 DEL; VAL-1038; GLN-1300; MET-1537; TRP-1640; PRO-1763; HIS-1898; GLU-1961; PHE-1970; PHE-2027; GLN-2030 AND ARG-2033, VARIANTS RP19 MET-455 AND ILE-552, VARIANTS 681-ARG--ASP-2273 DEL; ASP-767 AND ARG-1591, VARIANT CORD3 GLU-1961. - Ref.49"Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations."
Jiang F., Pan Z., Xu K., Tian L., Xie Y., Zhang X., Chen J., Dong B., Li Y.
Invest. Ophthalmol. Vis. Sci. 57:145-152(2016) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 LYS-14; PRO-18; HIS-24; VAL-72; CYS-97; 185-GLN--ASP-2273 DEL; ARG-240; LEU-291; 326-TYR--ASP-2273 DEL; VAL-328; SER-345; THR-410; CYS-508; CYS-511; ARG-519; 533-GLN--ASP-2273 DEL; CYS-537; ARG-548; ARG-550; LEU-593; TRP-602; CYS-603; ARG-607; ASN-645; HIS-653; SER-754; 808-TYR--ASP-2273 DEL; VAL-816; SER-965; TYR-965; SER-973; MET-1019; GLY-1022; LYS-1036; LEU-1074; THR-1094; HIS-1108; LYS-1122; THR-1130; TRP-1140; SER-1159; HIS-1161; 1300-ARG--ASP-2273 DEL; ASN-1371; 1453-TYR--ASP-2273 DEL; LEU-1503; HIS-1511; MET-1526; ARG-1591; 1724-TRP--ASP-2273 DEL; VAL-1773; LEU-1776; TRP-1843; ILE-1868; LYS-1885; GLY-1921; MET-1921; ARG-1961; SER-1977; TYR-2017; THR-2023; 2030-ARG--ASP-2273 DEL; ARG-2032; TRP-2038; 2040-ARG--ASP-2273 DEL; GLN-2040; GLY-2042; THR-2064; GLU-2078; SER-2097; ARG-2150 AND SER-2188, VARIANTS ARG-423; TYR-1102; THR-1209; MET-1428; MET-1572; 1618-TRP--ASP-2273 DEL; VAL-1623; GLN-1640; 1652-TYR--ASP-2273 DEL AND ILE-2255, VARIANTS CORD3 53-GLU--ASP-2273 DEL; ARG-55; PRO-63; 107-ARG--ASP-2273 DEL; 218-GLN--ASP-2273 DEL; CYS-320; 339-TRP--ASP-2273 DEL; 605-TRP--ASP-2273 DEL; LYS-636; ARG-661; CYS-1183; CYS-1368; 1479-TRP--ASP-2273 DEL; 1650-GLU--ASP-2273 DEL; ILE-1882; SER-2043; HIS-2107 AND ASP-2146. - Ref.50"Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease."
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]Cited for: VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, CHARACTERIZATION OF VARIANTS STGD1 ARG-72; PRO-541; VAL-1038; GLU-1091; PRO-1794 AND TRP-2077, MUTAGENESIS OF ALA-1357, FUNCTION, SUBCELLULAR LOCATION. - Ref.52"Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration."
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]Cited for: FUNCTION, SUBCELLULAR LOCATION, CHARACTERIZATION OF VARIANTS STGD1 CYS-653; HIS-653; ARG-661; SER-686; VAL-690; MET-716; TYR-764; ARG-765; ASN-765; ASP-767; PRO-797; GLU-818; ARG-821; THR-824; ARG-840; ALA-849; ASP-851; THR-854; LEU-1380; LYS-1399; ASN-1696; GLU-1703; LYS-1703; LEU-1705; VAL-1773; ASP-1794; PRO-1794; ASP-1805; ASN-1838; ASP-1838; TYR-1838; TRP-1843; ILE-1868 AND HIS-1898, CHARACTERIZATION OF VARIANTS HIS-846; GLU-1773 AND CYS-1898, MUTAGENESIS OF HIS-1838.
Allikmets R., Singh N., Sun H., Shroyer N.F., Hutchinson A., Chidambaram A., Gerrard B., Baird L., Stauffer D., Peiffer A., Rattner A., Smallwood P.M., Li Y., Anderson K.L., Lewis R.A., Nathans J., Leppert M., Dean M., Lupski J.R.
Nat. Genet. 15:236-246(1997) [PubMed] [Europe PMC] [Abstract]
Gerber S., Rozet J.-M., van de Pol T.J.R., Hoyng C.B., Munnich A., Blankenagel A., Kaplan J., Cremers F.P.M.
Genomics 48:139-142(1998) [PubMed] [Europe PMC] [Abstract]
Nasonkin I., Illing M., Koehler M.R., Schmid M., Molday R.S., Weber B.H.F.
Hum. Genet. 102:21-26(1998) [PubMed] [Europe PMC] [Abstract]
Biswas-Fiss E.E., Kurpad D.S., Joshi K., Biswas S.B.
J. Biol. Chem. 285:19372-19383(2010) [PubMed] [Europe PMC] [Abstract]
Biswas-Fiss E.E., Affet S., Ha M., Biswas S.B.
J. Biol. Chem. 287:44097-44107(2012) [PubMed] [Europe PMC] [Abstract]
Quazi F., Lenevich S., Molday R.S.
Nat. Commun. 3:925-925(2012) [PubMed] [Europe PMC] [Abstract]
Quazi F., Molday R.S.
J. Biol. Chem. 288:34414-34426(2013) [PubMed] [Europe PMC] [Abstract]
Rozet J.-M., Gerber S., Souied E., Perrault I., Chatelin S., Ghazi I., Leowski C., Dufier J.-L., Munnich A., Kaplan J.
Eur. J. Hum. Genet. 6:291-295(1998) [PubMed] [Europe PMC] [Abstract]
Lewis R.A., Shroyer N.F., Singh N., Allikmets R., Hutchinson A., Li Y., Lupski J.R., Leppert M., Dean M.
Am. J. Hum. Genet. 64:422-434(1999) [PubMed] [Europe PMC] [Abstract]
Maugeri A., van Driel M.A., van de Pol D.J.R., Klevering B.J., van Haren F.J.J., Tijmes N., Bergen A.A.B., Rohrschneider K., Blankenagel A., Pinckers A.J.L.G., Dahl N., Brunner H.G., Deutman A.F., Hoyng C.B., Cremers F.P.M.
Am. J. Hum. Genet. 64:1024-1035(1999) [PubMed] [Europe PMC] [Abstract]
Zhang K., Garibaldi D.C., Kniazeva M., Albini T., Chiang M.F., Kerrigan M., Sunness J.S., Han M., Allikmets R.
Am. J. Ophthalmol. 128:720-724(1999) [PubMed] [Europe PMC] [Abstract]
Fishman G.A., Stone E.M., Grover S., Derlacki D.J., Haines H.L., Hockey R.R.
Arch. Ophthalmol. 117:504-510(1999) [PubMed] [Europe PMC] [Abstract]
Rivera A., White K., Stoehr H., Steiner K., Hemmrich N., Grimm T., Jurklies B., Lorenz B., Scholl H.P.N., Apfelstedt-Sylla E., Weber B.H.F.
Am. J. Hum. Genet. 67:800-813(2000) [PubMed] [Europe PMC] [Abstract]
Shroyer N.F., Lewis R.A., Lupski J.R.
Hum. Genet. 106:244-248(2000) [PubMed] [Europe PMC] [Abstract]
Papaioannou M., Ocaka L., Bessant D., Lois N., Bird A.C., Payne A., Bhattacharya S.S.
Invest. Ophthalmol. Vis. Sci. 41:16-19(2000) [PubMed] [Europe PMC] [Abstract]
Simonelli F., Testa F., de Crecchio G., Rinaldi E., Hutchinson A., Atkinson A., Dean M., D'Urso M., Allikmets R.
Invest. Ophthalmol. Vis. Sci. 41:892-897(2000) [PubMed] [Europe PMC] [Abstract]
Eksandh L., Ekstroem U., Abrahamson M., Bauer B., Andreasson S.
Acta Ophthalmol. Scand. 79:524-530(2001) [PubMed] [Europe PMC] [Abstract]
Paloma E., Martinez-Mir A., Vilageliu L., Gonzalez-Duarte R., Balcells S.
Hum. Mutat. 17:504-510(2001) [PubMed] [Europe PMC] [Abstract]
Webster A.R., Heon E., Lotery A.J., Vandenburgh K., Casavant T.L., Oh K.T., Beck G., Fishman G.A., Lam B.L., Levin A., Heckenlively J.R., Jacobson S.G., Weleber R.G., Sheffield V.C., Stone E.M.
Invest. Ophthalmol. Vis. Sci. 42:1179-1189(2001) [PubMed] [Europe PMC] [Abstract]
Briggs C.E., Rucinski D., Rosenfeld P.J., Hirose T., Berson E.L., Dryja T.P.
Invest. Ophthalmol. Vis. Sci. 42:2229-2236(2001) [PubMed] [Europe PMC] [Abstract]
Stenirri S., Fermo I., Battistella S., Galbiati S., Soriani N., Paroni R., Manitto M.P., Martina E., Brancato R., Allikmets R., Ferrari M., Cremonesi L.
Clin. Chem. 50:1336-1343(2004) [PubMed] [Europe PMC] [Abstract]
Riveiro-Alvarez R., Aguirre-Lamban J., Lopez-Martinez M.A., Trujillo-Tiebas M.J., Cantalapiedra D., Vallespin E., Avila-Fernandez A., Ramos C., Ayuso C.
Br. J. Ophthalmol. 93:1359-1364(2009) [PubMed] [Europe PMC] [Abstract]
Passerini I., Sodi A., Giambene B., Mariottini A., Menchini U., Torricelli F.
Eye 24:158-164(2010) [PubMed] [Europe PMC] [Abstract]
Downes S.M., Packham E., Cranston T., Clouston P., Seller A., Nemeth A.H.
Arch. Ophthalmol. 130:1486-1490(2012) [PubMed] [Europe PMC] [Abstract]
Chacon-Camacho O.F., Granillo-Alvarez M., Ayala-Ramirez R., Zenteno J.C.
Exp. Eye Res. 109:77-82(2013) [PubMed] [Europe PMC] [Abstract]
Ortube M.C., Strom S.P., Nelson S.F., Nusinowitz S., Martinez A., Gorin M.B.
BMC Med. Genet. 15:11-11(2014) [PubMed] [Europe PMC] [Abstract]
Miraldi Utz V., Coussa R.G., Marino M.J., Chappelow A.V., Pauer G.J., Hagstrom S.A., Traboulsi E.I.
Br. J. Ophthalmol. 98:513-518(2014) [PubMed] [Europe PMC] [Abstract]
Bauwens M., De Zaeytijd J., Weisschuh N., Kohl S., Meire F., Dahan K., Depasse F., De Jaegere S., De Ravel T., De Rademaeker M., Loeys B., Coppieters F., Leroy B.P., De Baere E.
Hum. Mutat. 36:39-42(2015) [PubMed] [Europe PMC] [Abstract]
Jiang F., Pan Z., Xu K., Tian L., Xie Y., Zhang X., Chen J., Dong B., Li Y.
Invest. Ophthalmol. Vis. Sci. 57:145-152(2016) [PubMed] [Europe PMC] [Abstract]
Garces F., Jiang K., Molday L.L., Stoehr H., Weber B.H., Lyons C.J., Maberley D., Molday R.S.
Invest. Ophthalmol. Vis. Sci. 59:2305-2315(2018) [PubMed] [Europe PMC] [Abstract]
Garces F.A., Scortecci J.F., Molday R.S.
Int. J. Mol. Sci. 22:0-0(2020) [PubMed] [Europe PMC] [Abstract]
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
<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_012494 | 13 – 15 | Missing in STGD1. 1 Publication Manual assertion based on experiment ini
| 3 | |
Natural variantiVAR_084833 | 14 | N → K in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084834 | 18 | R → P in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008398 | 18 | R → W in STGD1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084835 | 21 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 2253 | |
Natural variantiVAR_008399 | 24 | R → H in STGD1; unknown pathological significance. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008400 | 54 | C → Y in STGD1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012495 | 58 | N → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012496 | 60 | A → E in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012497 | 60 | A → T in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008492 | 60 | A → V in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008401 | 65 | G → E in STGD1 and CORD3. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012498 | 68 | P → L in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012499 | 68 | P → R in STGD1. Corresponds to variant dbSNP:rs62654397EnsemblClinVar. | 1 | |
Natural variantiVAR_012500 | 72 | G → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084839 | 72 | G → V in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008402 | 75 | C → G in STGD1. Corresponds to variant dbSNP:rs61748526EnsemblClinVar. | 1 | |
Natural variantiVAR_012501 | 77 | V → E in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_085009 | 89 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 2185 | |
Natural variantiVAR_008403 | 96 | N → D in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008404 | 96 | N → H in STGD1; unknown pathological significance. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084840 | 96 | N → K in STGD1; unknown pathological significance. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084841 | 97 | Y → C in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012502 | 100 | S → P in STGD1; highly decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084843 | 108 | D → V in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084844 | 143 | P → L in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012503 | 152 | R → Q in STGD1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012504 | 156 | I → V in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084845 | 172 | G → S in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084846 | 184 | S → F in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084847 | 184 | S → R in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084848 | 185 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 2089 | |
Natural variantiVAR_012505 | 190 | Q → H in STGD1. 1 Publication Manual assertion based on experiment ini
| 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 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008406 | 212 | R → C in STGD1 and CORD3; common mutation in southern Europe; reduced ATP-binding capacity. 11 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012507 | 212 | R → H in STGD1. 6 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012508 | 220 | R → C in STGD1. Corresponds to variant dbSNP:rs61748538EnsemblClinVar. | 1 | |
Natural variantiVAR_084851 | 223 | K → Q in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012509 | 230 | C → S in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084852 | 240 | I → R in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_085010 | 241 | E → D in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012510 | 244 | L → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084853 | 245 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 2029 | |
Natural variantiVAR_084854 | 246 | A → T in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012511 | 247 | N → S in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008407 | 249 | D → G in STGD1. Corresponds to variant dbSNP:rs62646865EnsemblClinVar. | 1 | |
Natural variantiVAR_085011 | 290 | R → W in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084855 | 291 | P → L in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008408 | 300 | T → N in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012512 | 309 | P → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084857 | 326 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1948 | |
Natural variantiVAR_012513 | 328 | E → V in STGD1. 2 Publications Manual assertion based on experiment ini
| 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 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084859 | 345 | Y → S in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012516 | 380 | N → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008411 | 407 | A → V in STGD1 and CORD3. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084860 | 410 | I → T in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084861 | 415 | N → K in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084862 | 418 | F → S in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_085012 | 424 | V → A in STGD1 and RP19; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084863 | 431 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1843 | |
Natural variantiVAR_008412 | 445 | S → R in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008413 | 471 | E → K in ARMD2 and STGD1; unknown pathological significance; ATP-binding capacity and retinal stimulation as in wild-type. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084866 | 498 | D → E in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084867 | 508 | R → C in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084868 | 511 | R → C in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084869 | 519 | C → R in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 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 Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084870 | 533 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1741 | |
Natural variantiVAR_012519 | 537 | R → C in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008415 | 541 | L → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084871 | 548 | W → R in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012520 | 549 | A → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012521 | 550 | G → R in STGD1. 4 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084872 | 572 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1702 | |
Natural variantiVAR_008416 | 572 | R → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008417 | 572 | R → Q in STGD1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084874 | 593 | P → L in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012523 | 602 | R → Q in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008418 | 602 | R → W in STGD1. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084875 | 603 | Y → C in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012524 | 607 | G → R in STGD1. 5 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012525 | 607 | G → W in STGD1. Corresponds to variant dbSNP:rs61749412EnsemblClinVar. | 1 | |
Natural variantiVAR_008419 | 608 | F → I in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084877 | 616 | E → K in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012526 | 635 | Q → K in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012527 | 636 | Q → H in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084879 | 639 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1635 | |
Natural variantiVAR_085013 | 640 | P → L in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084880 | 641 | C → S in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012528 | 643 | V → M in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008421 | 645 | D → N in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012529 | 653 | R → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084881 | 653 | R → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012530 | 686 | L → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084884 | 690 | G → V in STGD1; unknown pathological significance; severely decreases solubility; loss of cytoplasmic vesicle localization; very low substrate binding. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084885 | 700 – 2273 | Missing in STGD1; unknown pathological significance. 2 Publications Manual assertion based on experiment ini
| 1574 | |
Natural variantiVAR_012531 | 716 | T → 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 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084886 | 754 | F → S in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012532 | 764 | C → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012534 | 765 | S → 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 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012533 | 765 | S → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012535 | 767 | V → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_085014 | 779 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1495 | |
Natural variantiVAR_084887 | 782 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1492 | |
Natural variantiVAR_012536 | 797 | L → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084888 | 808 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1466 | |
Natural variantiVAR_084889 | 816 | G → V in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008422 | 818 | G → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008423 | 821 | W → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012537 | 824 | I → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084890 | 840 | M → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012538 | 849 | V → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008424 | 851 | G → 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 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012539 | 854 | A → 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 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008425 | 863 | G → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012540 | 863 | Missing in STGD1 and CORD3; reduced ATP-binding capacity and retinal-stimulated ATP hydrolysis. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012541 | 873 | F → L in STGD1. Corresponds to variant dbSNP:rs62642570EnsemblClinVar. | 1 | |
Natural variantiVAR_084891 | 876 – 2273 | Missing in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1398 | |
Natural variantiVAR_012542 | 897 | T → I in STGD1. 3 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008427 | 931 | V → M in STGD1. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012544 | 935 | V → A in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008428 | 943 | R → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012545 | 943 | R → W in STGD1 and FFM. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084892 | 954 | Y → D in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008429 | 957 | Q → R in STGD1. Corresponds to variant dbSNP:rs61749448EnsemblClinVar. | 1 | |
Natural variantiVAR_012546 | 959 | T → I in STGD1; moderately decreased protein abundance; highly decreased ATPase activity; highly decreased phospholipid translocase activity. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008430 | 965 | N → 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 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084893 | 965 | N → Y in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084894 | 970 | T → P in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 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 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084895 | 973 | L → S in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012549 | 974 | S → P in STGD1. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_084896 | 977 | T → P in STGD1; unknown pathological significance. 1 Publication Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_008431 | 978 | G → C in STGD1. Corresponds to variant dbSNP:rs61749452EnsemblClinVar. | 1 | |
Natural variantiVAR_084897 | 978 | G → D in STGD1; unknown pathological significance. 2 Publications Manual assertion based on experiment ini
| 1 | |
Natural variantiVAR_012550 | 989 | V → A in STGD1. 2 Publications |