UniProt:P78363 ABCA4

chain
  • chain:1-2273
checksum 6E7012D3041CD043
comment
  • FUNCTION Catalyzes the translocation of specific phospholipids from the extracellular/lumenal to the cytoplasmic leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylethanolamine (PubMed:24097981). In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans-retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery.ACTIVITY REGULATION ATPase activity is decreased by cholesterol and ceramide. ATPase activity is stimulated by phosphatidylethanolamine. Phospholipids translocase activity is highly reduced by berylium fluoride and aluminum floride. N-ethylmaleimide inhibits phospholipid translocase activity.TISSUE SPECIFICITY Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.SIMILARITY Belongs to the ABC transporter superfamily. ABCA family.
crossReference
databaseName UniProt
dbId 49428
description
  • recommendedName: fullName evidence="38"Retinal-specific phospholipid-transporting ATPase ABCA4 ecNumber evidence="28"7.6.2.1/ecNumber alternativeName: ATP-binding cassette sub-family A member 4 alternativeName: RIM ABC transporter shortName:RIM protein shortName:RmP alternativeName: Retinal-specific ATP-binding cassette transporter alternativeName: Stargardt disease protein
displayName UniProt:P78363 ABCA4
geneName
  • ABCA4
  • ABCR
identifier P78363
isSequenceChanged false
keyword
  • Age-related macular degeneration
  • ATP-binding
  • Cone-rod dystrophy
  • Disease variant
  • Disulfide bond
  • Endoplasmic reticulum
  • Glycoprotein
  • Membrane
  • Nucleotide-binding
  • Reference proteome
  • Repeat
  • Retinitis pigmentosa
  • Sensory transduction
  • Stargardt disease
  • Translocase
  • Transmembrane
  • Transmembrane helix
  • Transport
  • Vision
modified [InstanceEdit:11703684] Shorser, Solomon, 2021-05-28
name
  • ABCA4
otherIdentifier
  • 0004070300
  • 11748209_a_at
  • 11752075_a_at
  • 16689764
  • 210082_at
  • 24
  • 2423670
  • 2423671
  • 2423672
  • 2423675
  • 2423676
  • 2423679
  • 2423680
  • 2423681
  • 2423683
  • 2423687
  • 2423690
  • 2423693
  • 2423694
  • 2423696
  • 2423698
  • 2423699
  • 2423703
  • 2423705
  • 2423710
  • 2423711
  • 2423712
  • 2423713
  • 2423714
  • 2423717
  • 2423719
  • 2423720
  • 2423722
  • 2423723
  • 2423724
  • 2423727
  • 2423728
  • 2423730
  • 2423731
  • 2423733
  • 2423737
  • 2423738
  • 2423742
  • 2423743
  • 2423744
  • 2423745
  • 2423747
  • 2423748
  • 2423755
  • 2423761
  • 2423762
  • 2423776
  • 2423777
  • 2423778
  • 2423779
  • 2423781
  • 2423786
  • 2423788
  • 2423792
  • 2423793
  • 2423795
  • 2423802
  • 2423803
  • 40963_at
  • 7917798
  • A_23_P160940
  • GE62785
  • GO:0000166
  • GO:0001523
  • GO:0001750
  • GO:0003674
  • GO:0005215
  • GO:0005319
  • GO:0005524
  • GO:0005548
  • GO:0005575
  • GO:0005622
  • GO:0005737
  • GO:0005783
  • GO:0005886
  • GO:0005887
  • GO:0005929
  • GO:0006629
  • GO:0006649
  • GO:0006810
  • GO:0006869
  • GO:0007165
  • GO:0007601
  • GO:0007603
  • GO:0008150
  • GO:0016020
  • GO:0016021
  • GO:0016887
  • GO:0022857
  • GO:0042592
  • GO:0042626
  • GO:0043167
  • GO:0043226
  • GO:0043231
  • GO:0045332
  • GO:0045494
  • GO:0050877
  • GO:0050896
  • GO:0055085
  • GO:0061024
  • GO:0090555
  • GO:0097381
  • GO:0140326
  • GO:0140327
  • GO:0140347
  • HMNXSV003009447
  • ILMN_1794965
  • PH_hs_0025057
  • TC01002883.hg
  • U88667_at
  • g1888526_3p_at
physicalEntity
referenceDatabase [ReferenceDatabase:2] UniProt
referenceGene
referenceTranscript
schemaClass ReferenceGeneProduct
secondaryIdentifier
  • ABCA4_HUMAN
  • O15112
  • O60438
  • O60915
  • Q0QD48
  • Q4LE31
sequenceLength 2273
species [Species:48887] Homo sapiens
url http://purl.uniprot.org/uniprot/P78363
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