ABCA4 A1028V

Stable Identifier
R-HSA-2466850
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
Retinal-specific ATP-binding cassette transporter, ABCA4_HUMAN, ABCA4
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCA4, ABCR
Chain
chain:1-2273
Reference Transcript
Other Identifiers
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
AAC05632
AAC23915
AAC51144
AB210040
ABCA4
ABCA4-201
ABD90529
AC093579
AC105278
AF000148
AF001945
BAE06122
CAA75729
CCDS747
DQ426859
ENSG00000198691
ENSP00000359245
ENST00000370225
EntrezGene:24
F6TT59
g1888526_3p_at
GE62785
GO:0000166
GO:0001523
GO:0001750
GO:0003674
GO:0004012
GO:0005215
GO:0005395
GO:0005524
GO:0005548
GO:0005575
GO:0005622
GO:0005623
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
HGNC:34
ILMN_1794965
IPR003439
IPR003593
IPR005951
IPR017871
IPR026082
IPR027417
MIM:153800
MIM:248200
MIM:601691
MIM:601718
MIM:604116
NM_000350
NP_000341
PF00005
PF12698
PH_hs_0025057
SM00382
TC01002883.hg
U88667
U88667_at
uc001dqh.4
UPI000012511C
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
Participant Of
Other forms of this molecule
Modified Residues
Name
L-alanine 1028 replaced with L-valine
Coordinate
1028
PsiMod HEY
A protein modification that effectively removes or replaces an L-alanine.
A protein modification that effectively converts a source amino acid residue to an L-valine.
Disease
Name Identifier Synonyms
macular degeneration 4448 Macular degeneration of retina, unspecified, Macular degeneration (disorder), macular degeneration
Cross References
RefSeq
GeneCards
PRO
Orphanet