ABCA4 R943Q [photoreceptor disc membrane]

Stable Identifier
R-HSA-2466827
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
photoreceptor disc membrane
Synonyms
Retinal-specific ATP-binding cassette transporter, ABCA4_HUMAN, ABCA4
Icon
ABCA4 R943Q [photoreceptor disc membrane] icon
ABCA4 R943Q [photoreceptor disc membrane] icon
Locations in the PathwayBrowser
Expand all
External Reference Information
External Reference
UniProt:P78363 ABCA4
Gene Names
ABCA4, ABCR
Chain
chain:1-2273
Reference Genes
BioGPS Gene:24 ABCA4
COSMIC (genes):ABCA4 ABCA4
CTD Gene:24 ABCA4
dbSNP Gene:24 ABCA4
ENSEMBL:ENSG00000198691 ABCA4
ENSEMBL_homo_sapiens_GENE:ENSG00000198691.14 ABCA4
HGNC:34 ABCA4
KEGG Gene (Homo sapiens):24 ABCA4
Monarch:24 ABCA4
NCBI Gene:24 ABCA4
OMIM:601691 ABCA4
UCSC:P78363 ABCA4
Reference Transcript
Other Identifiers
11748209_a_at
11752075_a_at
16689764
210082_PM_at
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:0003824
GO:0003924
GO:0005215
GO:0005501
GO:0005502
GO:0005503
GO:0005524
GO:0005548
GO:0005783
GO:0005886
GO:0005929
GO:0006629
GO:0006649
GO:0006869
GO:0007601
GO:0007603
GO:0008289
GO:0016020
GO:0016787
GO:0016887
GO:0023052
GO:0031410
GO:0034632
GO:0034633
GO:0042574
GO:0042626
GO:0042995
GO:0043226
GO:0043231
GO:0045332
GO:0045494
GO:0050877
GO:0050896
GO:0055085
GO:0061024
GO:0090555
GO:0097381
GO:0120202
GO:0140326
GO:0140327
GO:0140347
GO:0140359
GO:0140657
HMNXSV003009447
ILMN_1794965
PH_hs_0025057
TC01002883.hg
U88667_at
g1888526_3p_at
Participates
as a member of
Other forms of this molecule
ABCA4 G1961E [photoreceptor disc membrane]
ABCA4 A1028V [photoreceptor disc membrane]
ABCA4 G863A [photoreceptor disc membrane]
ABCA4 [photoreceptor disc membrane]
Modified Residues
Name
L-arginine 943 replaced with L-glutamine
Coordinate
943
PsiMod
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
L-glutamine residue [MOD:00016]
A protein modification that effectively converts a source amino acid residue to an L-glutamine.
Disease
Name Identifier Synonyms
macular degeneration DOID:4448 Macular degeneration of retina, unspecified, Macular degeneration (disorder), macular degeneration
Cross References
RefSeq
Guide to Pharmacology - Targets
759
OpenTargets
IntEnz
HPA
GeneCards
Ensembl
PRO
Pharos - Targets
Orphanet
PDB
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