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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
Orphanet:15050
PRO:P78363
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, Y15641, 2423802, MIM:604116, Y15637, 2423698, Y15674, CCDS747, Y15665, Y15684, 11748209_a_at, Y15669, Y15657, NP_000341, 2423693, Y15646, Y15639, 2423681, 2423777, AF533020, Y15664, Y15676, MIM:601691, 2423680, AAC05632, 2423724, OTTHUMP00000012366, BAE06122, PH_hs_0025057, HGNC:34, Y15648, 2423687, 2423737, 210082_at, g1888526_3p_at, Y15635, Y15678, AF001945, 2423748, A_23_P160940, 2423744, ENSP00000359245, 2423731, uc001dqh.3, 2423742, 16689764, Y15677, 2423779, Y15654, U88667_at, 2423712, 2423755, Hs.416707, 2423728, 24, Y15650, Y15683, IPR003439, Y15655, 2423723, Y15667, AAC51144, Y15681, Y15672, 11752075_a_at, Y15644, Y15671, Q86V62, 2423803, Y15680, 2423792, 2423671, F5H5R2, EntrezGene:24, NM_000350, 2423676, Y15652, Y15661, AAC23915, 2423696, 2423690, Y15638, Y15649, 7917798, ABD90529, Y15675, 2423714, Y15645, SM00382, 2423705, Y15666, 2423699, AC105278, 2423761, 2423703, ABCA4-001, Y15651, 2423694, U88667, Y15653, Y15682, Y15640, 2423727, Y15658, 2423743, CAA75729, 9490294, AAP33155, AC093579, 0004070300, DQ426859, 2423679, AB210040, Y15679, Y15663, MIM:248200, GE62785, AF000148, 2423795, Y15636, 40963_at, Y15647, 2423713, Y15673, 2423738, Y15656, ENSG00000198691, 2423745, 2423717, 2423778, MIM:601718, 2423683, 2423786, 2423747, 2423793, 2423670, IPR027417, 2423776, 2423710, 2423719, Y15659, Y15643, ABCR, 2423720, 2423675, ILMN_1794965, Y15642, 2423730, 2423733, IPR005951, UPI000012511C, 2423762, Y15668, MIM:153800, 2423711, Y15670, ABCA4, 2423781, IPR003593, 2423722, Y15662, 2423788, 2423672, Y15660, PF00005
Molecules with this sequenceABCA4 [photoreceptor disc membrane] UKENBCdOOOOOORHPGUR
ABCA4 G1961E [photoreceptor outer segment membrane] UKENBCdOOOOOORHPGUR
ABCA4 G863A [photoreceptor outer segment membrane] UKENBCdOOOOOORHPGUR
ABCA4 R943Q [photoreceptor outer segment membrane] UKENBCdOOOOOORHPGUR
ABCA4 A1028V [photoreceptor outer segment membrane] UKENBCdOOOOOORHPGUR
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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