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ABCA1 C1417R [plasma membrane]
Stable Identifier
R-HSA-5682190
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
ATP-binding cassette sub-family A member 1
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCA1 causes TGD (Homo sapiens)
Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane (Homo sapiens)
APOA1(25-266):ABCA1 mutants [plasma membrane] (Homo sapiens)
ABCA1 mutants [plasma membrane] (Homo sapiens)
ABCA1 C1417R [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:O95477 ABCA1
Gene Names
ABCA1, ABC1, CERP
Chain
chain:1-2261
Reference Genes
BioGPS Gene:19 ABCA1
COSMIC (genes):ABCA1 ABCA1
CTD Gene:19 ABCA1
dbSNP Gene:19 ABCA1
ENSEMBL:ENSG00000165029 ABCA1
ENSEMBL_homo_sapiens_GENE:ENSG00000165029.17 ABCA1
HGNC:29 ABCA1
KEGG Gene (Homo sapiens):19 ABCA1
Monarch:19 ABCA1
NCBI Gene:19 ABCA1
OMIM:600046 ABCA1
UCSC:O95477 ABCA1
Reference Transcript
RefSeq:NM_005502.3 ABCA1
Other Identifiers
11739502_a_at
11739503_at
17096728
19
203504_PM_s_at
203504_s_at
203505_PM_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
60496_r_at
78253_r_at
8162940
A_23_P216649
A_24_P235429
A_33_P3422897
GE61476
GO:0000166
GO:0002790
GO:0003824
GO:0005102
GO:0005215
GO:0005319
GO:0005515
GO:0005524
GO:0005548
GO:0005768
GO:0005783
GO:0005789
GO:0005794
GO:0005886
GO:0006629
GO:0006911
GO:0007040
GO:0007186
GO:0007189
GO:0007584
GO:0008035
GO:0008202
GO:0008203
GO:0008289
GO:0008320
GO:0009306
GO:0009410
GO:0009897
GO:0009986
GO:0010745
GO:0010875
GO:0010887
GO:0015485
GO:0015914
GO:0016020
GO:0016192
GO:0016197
GO:0016323
GO:0016787
GO:0016887
GO:0019905
GO:0023052
GO:0023061
GO:0030139
GO:0030154
GO:0030301
GO:0031210
GO:0031267
GO:0031410
GO:0031667
GO:0032367
GO:0032489
GO:0033344
GO:0033552
GO:0033700
GO:0034185
GO:0034186
GO:0034188
GO:0034380
GO:0034616
GO:0038024
GO:0038027
GO:0042157
GO:0042158
GO:0042626
GO:0042632
GO:0043226
GO:0043231
GO:0043691
GO:0045121
GO:0045332
GO:0045335
GO:0046623
GO:0048471
GO:0051117
GO:0051649
GO:0055085
GO:0055091
GO:0060089
GO:0060155
GO:0061024
GO:0065003
GO:0071222
GO:0071300
GO:0071345
GO:0071397
GO:0071404
GO:0071466
GO:0071806
GO:0090107
GO:0090108
GO:0090554
GO:0090556
GO:0097708
GO:0099039
GO:0120009
GO:0120020
GO:0140115
GO:0140326
GO:0140328
GO:0140359
GO:0140657
HMNXSV003009990
HMNXSV003017214
HMNXSV003051456
ILMN_1766054
PH_hs_0022625
TC09001434.hg
g5915657_3p_a_at
g9755158_3p_at
Participates
as a member of
ABCA1 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
ABCA1 W590S [plasma membrane]
ABCA1 N935S [plasma membrane]
ABCA1 S1446L [plasma membrane]
ABCA1 R587W [plasma membrane]
ABCA1 [plasma membrane]
4xPALM-C-p-2S-ABCA1 [plasma membrane]
4xPALM-C-ABCA1 [endoplasmic reticulum membrane]
4xPALM-C-ABCA1 [plasma membrane]
ABCA1 [endoplasmic reticulum membrane]
ABCA1 Q537R [plasma membrane]
Modified Residues
Name
L-cysteine 1417 replaced with L-arginine
Coordinate
1417
PsiMod
L-cysteine removal [MOD:01635]
A protein modification that effectively removes or replaces an L-cysteine.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Disease
Name
Identifier
Synonyms
Tangier disease
DOID:1388
familial alpha-lipoprotein deficiency, familial hypoalphalipoproteinemia, familial high density lipoprotein deficiency
Cross References
RefSeq
NP_005493.2
Guide to Pharmacology - Targets
756
OpenTargets
ENSG00000165029
IntEnz
7.6.2.1
GeneCards
O95477
HPA
ENSG00000165029-ABCA1
Ensembl
ENST00000374736
,
ENSP00000363868
,
ENSG00000165029
PRO
O95477
Pharos - Targets
O95477
Orphanet
17351
HMDB Protein
HMDBP01618
PDB
7TDT
,
7ROQ
,
7TBW
,
7TBZ
,
7TBY
,
7TC0
,
5XJY
Interactors (10)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P02647 APOA1
11
APOA1(25-266) [secretory granule lumen]
(R-HSA-350761)
APOA1(25-267) [cytosol]
(R-HSA-2395781)
APOA1(25-267) [early endosome]
(R-HSA-2429641)
APOA1(25-267) [endoplasmic reticulum lumen]
(R-HSA-174640)
APOA1(19-266) [extracellular region]
(R-HSA-264771)
APOA1(25-266) [plasma membrane]
(R-HSA-216742)
Variant apolipoprotein AI [extracellular region]
(R-HSA-976865)
APOA1(25-266) [endocytic vesicle lumen]
(R-HSA-2239460)
p-APOA1 [endoplasmic reticulum lumen]
(R-HSA-8957081)
APOA1 [endoplasmic reticulum lumen]
(R-HSA-8956724)
APOA1(25-266) [extracellular region]
(R-HSA-174720)
0.621
8
UniProt:Q86UK0 ABCA12
6
ABCA12 V2442Sfs*22 [plasma membrane]
(R-HSA-5682350)
ABCA12 K1671Ifs*4 [plasma membrane]
(R-HSA-5682320)
ABCA12 D2363N [plasma membrane]
(R-HSA-5682291)
ABCA12 R287* [plasma membrane]
(R-HSA-5682308)
ABCA12 G1179R [plasma membrane]
(R-HSA-5682356)
ABCA12 [plasma membrane]
(R-HSA-383202)
0.589
4
UniProt:Q13884 SNTB1
0.576
3
UniProt:P27824 CANX
2
CANX [lumenal side of endoplasmic reticulum membrane]
(R-HSA-983091)
CANX [endoplasmic reticulum lumen]
(R-HSA-195906)
0.576
8
UniProt:Q86Y82 STX12
0.537
9
UniProt:P46939 UTRN
1
UTRN [cytosol]
(R-HSA-5216039)
0.527
3
UniProt:P60953 CDC42
3
CDC42 [endoplasmic reticulum membrane]
(R-HSA-5672086)
CDC42 [cytosol]
(R-HSA-442630)
CDC42 [plasma membrane]
(R-HSA-449545)
0.524
2
UniProt:Q13425 SNTB2
0.508
3
UniProt:O75955 FLOT1
1
FLOT1 [plasma membrane]
(R-HSA-112174)
0.499
2
UniProt:Q13424 SNTA1
0.499
2
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