ABCA1 S1446L

Stable Identifier
R-HSA-5682195
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
ATP-binding cassette sub-family A member 1
Locations in the PathwayBrowser
External Reference Information
External Reference
Gene Names
ABCA1, ABC1, CERP
Chain
chain:1-2261
Reference Transcript
Other Identifiers
0006100070
11739502_a_at
11739503_at
17096728
19
203504_s_at
31998_at
32000_g_at
3218529
3218530
3218531
3218532
3218533
3218535
3218537
3218538
3218539
3218543
3218544
3218545
3218547
3218548
3218549
3218552
3218553
3218554
3218557
3218558
3218559
3218560
3218563
3218564
3218566
3218567
3218568
3218570
3218574
3218575
3218576
3218578
3218579
3218582
3218583
3218584
3218585
3218586
3218587
3218588
3218589
3218591
3218594
3218595
3218596
3218597
3218598
3218604
3218606
3218608
3218609
3218612
3218620
3218623
3218624
3218628
3218629
3218633
3218639
3218640
3218655
3218656
3218657
52656_s_at
57283
5XJY
60496_r_at
69889
78253_r_at
8162940
A_23_P216649
A_24_P235429
A_33_P3422897
AAD49849
AAD49851
AAD49852
AAD49853
AAD49854
AAF86276
AAF98175
AAK43526
AB055982
ABCA1
ABCA1-202
AF165281
AF165282
AF165283
AF165284
AF165285
AF165286
AF165287
AF165288
AF165289
AF165290
AF165291
AF165292
AF165293
AF165294
AF165295
AF165296
AF165297
AF165298
AF165299
AF165300
AF165301
AF165302
AF165303
AF165304
AF165305
AF165306
AF165307
AF165308
AF165309
AF165310
AF275948
AF285167
AF287262
AJ012376
AL353685
AL359846
B1AMI2
BAB63210
CAA10005
CAB069889
CCDS6762
ENSG00000165029
ENSP00000363868
ENST00000374736
EntrezGene:19
g5915657_3p_a_at
g9755158_3p_at
GE61476
GO:0000166
GO:0002790
GO:0003674
GO:0004871
GO:0005102
GO:0005515
GO:0005524
GO:0005543
GO:0005548
GO:0005575
GO:0005576
GO:0005615
GO:0005622
GO:0005623
GO:0005737
GO:0005783
GO:0005789
GO:0005794
GO:0005886
GO:0005887
GO:0006464
GO:0006497
GO:0006629
GO:0006810
GO:0006911
GO:0006950
GO:0007040
GO:0007165
GO:0007186
GO:0007189
GO:0007584
GO:0008150
GO:0008202
GO:0008203
GO:0008289
GO:0008509
GO:0009058
GO:0009897
GO:0009986
GO:0010745
GO:0010875
GO:0010887
GO:0015485
GO:0015914
GO:0016020
GO:0016021
GO:0016192
GO:0016197
GO:0016887
GO:0017127
GO:0019216
GO:0019899
GO:0019905
GO:0022607
GO:0022857
GO:0030139
GO:0030154
GO:0030301
GO:0031267
GO:0031410
GO:0032367
GO:0032489
GO:0033344
GO:0033700
GO:0034185
GO:0034186
GO:0034188
GO:0034364
GO:0034380
GO:0034616
GO:0038027
GO:0042157
GO:0042158
GO:0042493
GO:0042592
GO:0042626
GO:0042632
GO:0043167
GO:0043226
GO:0043231
GO:0043691
GO:0044281
GO:0045121
GO:0045332
GO:0045335
GO:0048471
GO:0050702
GO:0051117
GO:0055085
GO:0055091
GO:0060155
GO:0061024
GO:0065003
GO:0071222
GO:0071300
GO:0071397
GO:0071404
GO:0090107
GO:0090554
GO:0090556
GO:0098656
HGNC:29
HPA057283
ILMN_1766054
IPR003439
IPR003593
IPR017871
IPR026082
IPR027417
MIM:143890
MIM:205400
MIM:600046
MIM:604091
NM_005502
NP_005493
PF00005
PF12698
PH_hs_0022625
SM00382
TC09001434.hg
uc004bcl.4
UPI000013E441
XM_005251773
XM_005251776
XM_011518339
XM_011518340
XM_011518341
XM_011518342
XM_011518344
XM_017014378
XM_017014379
XM_017014380
XM_017014381
XM_017014382
XP_005251830
XP_005251833
XP_011516641
XP_011516642
XP_011516643
XP_011516644
XP_011516646
XP_016869867
XP_016869868
XP_016869869
XP_016869870
XP_016869871
XR_001746223
Participant Of
Other forms of this molecule
Modified Residues
Name
L-serine 1446 replaced with L-leucine
Coordinate
1446
PsiMod HEY
A protein modification that effectively converts a source amino acid residue to an L-leucine.
A protein modification that effectively removes or replaces an L-serine.
Disease
Name Identifier Synonyms
Tangier disease 1388 familial alpha-lipoprotein deficiency, familial hypoalphalipoproteinemia, familial high density lipoprotein deficiency
Cross References
RefSeq
GeneCards
PRO
Orphanet
PDB
HMDB Protein