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Reactome (instancebrowser)
Reactome: A Curated Pathway Database
Details
IdentifierUniProt:P78363
DatabaseUniProt
SpeciesHomo sapiens
DescriptionrecommendedName: Retinal-specific ATP-binding cassette transporter alternativeName: ATP-binding cassette sub-family A member 4 alternativeName: RIM ABC transporter shortName:RIM protein shortName:RmP alternativeName: Stargardt disease protein
Links to corresponding entries in other databasesBioGPS Gene:24
CTD Gene:24
ENSEMBL:ENSG00000198691
GeneCards:P78363
HapMap:NM_000350
KEGG Gene:24
NCBI Gene:24
OMIM:153800
OMIM:248200
OMIM:601691
OMIM:601718
OMIM:604116
RefSeq:NM_000350
RefSeq:NP_000341
UCSC human:P78363
UniProt:P78363
dbSNP Gene:24
Other identifiers related to this sequenceABCA4_HUMAN, O15112, O60438, O60915, Q0QD48, Q4LE31, ENSG00000198691, ENST00000361520, ENSP00000354463, ENST00000370225, ENSP00000359245, 210082_at, 40963_at, U88667_at, g1888526_3p_at, A_23_P160940, CCDS747, GE62785, CR627391, DQ426859, AF533020, AB210040, U88667, AF000148, Y15635, Y15636, Y15637, Y15638, Y15639, Y15640, Y15641, Y15642, Y15643, Y15644, Y15645, Y15646, Y15647, Y15648, Y15649, Y15650, Y15651, Y15652, Y15653, Y15654, Y15655, Y15656, Y15657, Y15658, Y15659, Y15660, Y15661, Y15662, Y15663, Y15664, Y15665, Y15666, Y15667, Y15668, Y15669, Y15670, Y15671, Y15672, Y15673, Y15674, Y15675, Y15676, Y15677, Y15678, Y15679, Y15680, Y15681, Y15682, Y15683, Y15684, AF001945, EntrezGene:24, GI_4557875-S, ILMN_28625, IPI00297763, IPI00844585, MIM:601691, MIM:153800, MIM:248200, MIM:601718, MIM:604116, OTTHUMT00000029320, CAH10486, ABD90529, AAP33155, BAE06122, AAC51144, AAC23915, CAA75729, AAC05632, NM_000350, NP_000341, Hs.416707, Q6AI28, Q0QD48, Q86V62, Q4LE31, P78363, Q6AI28_HUMAN, Q0QD48_HUMAN, Q86V62_HUMAN, Q4LE31_HUMAN, ABCA4_HUMAN, IPR003439
Molecules with this sequenceABCA4 [photoreceptor disc membrane] UKENBCdOOOOORHGUR
ABCA4 G1961E [photoreceptor outer segment membrane] UKENBCdOOOOORHGUR
ABCA4 G863A [photoreceptor outer segment membrane] UKENBCdOOOOORHGUR
ABCA4 R943Q [photoreceptor outer segment membrane] UKENBCdOOOOORHGUR
ABCA4 A1028V [photoreceptor outer segment membrane] UKENBCdOOOOORHGUR
Represented by generalisation(s)ABCA4 mutants [photoreceptor outer segment membrane]
Processes where molecules and complexes with this sequence are involved

Signal Transduction

Transmembrane transport of small molecules

Disease

Modifications in molecules with this sequenceL-arginine 943 replaced with L-glutamine
glycine 1961 replaced with L-glutamic acid
L-alanine 1028 replaced with L-valine
glycine 863 replaced with L-alanine
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