ABCA1_HUMAN
Source:
PM23856902
Marked as 'Integral membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
ABCA1
, ABC1, CERP
Protein names and data:
ABCA1_HUMAN
, ATP-binding cassette sub-family A member 1
, ATP-binding cassette transporter 1; ABC-1; ATP-binding cassette 1; Cholesterol efflux regulatory protein
Lenght: 2261 a.a.
Mass: 254302 Da
fasta formatted sequence
Function:
cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.
Disease:
( OMIM:
205400
600046
604091
)
High density lipoprotein deficiency 1 (HDLD1) [MIM:205400]: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness. Note=The disease is caused by mutations affecting the gene represented in this entry. High density lipoprotein deficiency 2 (HDLD2) [MIM:604091]: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Membrane; Multi-pass membrane protein.
Tissue specificity:
Widely expressed, but most abundant in macrophages.
Genetic variants
Genetic variations in ABCA1 define the high density lipoprotein cholesterol level quantitative trait locus 13 (HDLCQ13) [MIM:600046].
85 - 85
P -> L (in HDLD2; Alabama; dbSNP:rs145183203). VAR_017529
145183203
210 - 210
E -> D (in a colorectal cancer sample; somatic mutation). VAR_035724
219 - 219
R -> K (common polymorphism; associated with a decreased severity of CAD; dbSNP:rs2230806). VAR_012618
2230806
230 - 230
R -> C (in HDLD2; dbSNP:rs9282541). VAR_012619
9282541
248 - 248
P -> A. VAR_062481
255 - 255
A -> T (in HDLD1; deficient cellular cholesterol efflux). VAR_012620
284 - 284
E -> K (in HDLD1). VAR_062482
364 - 364
S -> C. VAR_062483
399 - 399
V -> A (in dbSNP:rs9282543). VAR_009145
9282543
401 - 401
K -> Q. VAR_062484
482 - 482
Y -> C (in HDLD1). VAR_062485
496 - 496
R -> W (associated with increased plasma HDL cholesterol; dbSNP:rs147675550). VAR_062486
147675550
587 - 587
R -> W (in HDLD1; dbSNP:rs2853574). VAR_009146
2853574
590 - 590
W -> L (in HDLD1). VAR_062487
590 - 590
W -> S (in HDLD1). VAR_009147
597 - 597
Q -> R (in HDLD1; dbSNP:rs2853578). VAR_009148
2853578
638 - 638
R -> Q (associated with reduced plasma HDL cholesterol). VAR_062488
693 - 693
Missing (in HDLD2). VAR_009149
771 - 771
V -> M (associated with HDL cholesterol; dbSNP:rs2066718). VAR_012621
2066718
774 - 774
T -> P (in dbSNP:rs35819696). VAR_012622
35819696
774 - 774
T -> S. VAR_062489
776 - 776
K -> N (may be associated with increased risk of ischemic heart disease; dbSNP:rs138880920). VAR_012623
138880920
815 - 815
E -> G (associated with reduced plasma HDL cholesterol; dbSNP:rs145582736). VAR_062490
145582736
825 - 825
V -> I (associated with higher plasma cholesterol; dbSNP:rs2066715). VAR_012624
2066715
840 - 840
W -> R (in HDLD1). VAR_062491
883 - 883
I -> M (associated with higher plasma cholesterol; dbSNP:rs2066714). VAR_012625
2066714
917 - 917
D -> Y (in a colorectal cancer sample; somatic mutation). VAR_035725
929 - 929
T -> I (in HDLD1). VAR_012626
935 - 935
N -> H (in HDLD1; dbSNP:rs28937314). VAR_037968
28937314
935 - 935
N -> S (in HDLD1; dbSNP:rs28937313). VAR_009150
28937313
937 - 937
A -> V (in HDLD1). VAR_009151
1046 - 1046
A -> D (in HDLD1). VAR_012627
1054 - 1054
V -> I (in dbSNP:rs13306072). VAR_037969
13306072
1065 - 1065
P -> S. VAR_062492
1068 - 1068
R -> C (in HDLD1). VAR_062493
1091 - 1091
M -> T (in HDLD2). VAR_012628
1099 - 1099
D -> Y (in HDLD2; dbSNP:rs28933692). VAR_017530
28933692
1172 - 1172
E -> D (associated with premature coronary heart disease; dbSNP:rs33918808). VAR_012629
33918808
1181 - 1181
S -> F (associated with reduced plasma HDL cholesterol; dbSNP:rs76881554). VAR_017016
76881554
1216 - 1216
G -> V. VAR_062494
1289 - 1289
D -> N (in HDLD1). VAR_009152
1341 - 1341
R -> T (associated with reduced plasma HDL cholesterol; dbSNP:rs147743782). VAR_062495
147743782
1376 - 1376
S -> G. VAR_062496
1379 - 1379
L -> F (in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane). VAR_062497
1407 - 1407
A -> T (in a colorectal cancer sample; somatic mutation). VAR_035726
1477 - 1477
C -> R (in HDLD1). VAR_009153
1506 - 1506
S -> L (in HDLD1). VAR_012630
1517 - 1517
I -> R (in HDLD1). VAR_009154
1555 - 1555
I -> T (in dbSNP:rs1997618). VAR_012638
1997618
1587 - 1587
K -> R (associated with HDL cholesterol; dbSNP:rs2230808). VAR_012631
2230808
1611 - 1611
N -> D (probable disease-associated mutation; associated with atherosclerosis; deficient cellular cholesterol efflux). VAR_012632
1615 - 1615
R -> Q (associated with reduced plasma HDL cholesterol). VAR_062498
1648 - 1648
L -> P (in dbSNP:rs1883024). VAR_012639
1883024
1670 - 1670
A -> T (associated with reduced plasma HDL cholesterol). VAR_062499
1680 - 1680
R -> Q (associated with increased plasma HDL cholesterol; dbSNP:rs150125857). VAR_062500
150125857
1680 - 1680
R -> W (in HDLD1; dbSNP:rs137854498). VAR_037970
137854498
1704 - 1704
V -> D (in HDLD1; the mutant protein is retained in the endoplasmic reticulum while the wild-type protein is located at the plasma membrane). VAR_062501
1731 - 1731
S -> C. VAR_012633
1800 - 1800
N -> H (in HDLD1). VAR_009155
1851 - 1851
R -> Q (in HDLD1). VAR_062502
1893 - 1894
Missing (in HDLD2). VAR_012634
1897 - 1897
R -> W (in HDLD2; uncertain pathological significance). VAR_062503
1901 - 1901
R -> S (in HDLD1). VAR_062504
1925 - 1925
R -> Q (in Scott syndrome; shows impaired trafficking of the mutant protein to the plasma membrane; dbSNP:rs142688906). VAR_062505
142688906
2009 - 2009
F -> S (in HDLD2). VAR_037971
2081 - 2081
R -> W (in HDLD1). VAR_012635
2109 - 2109
A -> T (in a colorectal cancer sample; somatic mutation). VAR_035727
2150 - 2150
P -> L (in HDLD2). VAR_012636
2163 - 2163
F -> S (could be associated with reduced plasma HDL cholesterol). VAR_062506
2168 - 2168
L -> P (in dbSNP:rs2853577). VAR_012637
2853577
2196 - 2196
Q -> H (in HDLD1). VAR_062507
2243 - 2243
D -> E (in dbSNP:rs34879708). VAR_062508
34879708
2244 - 2244
V -> I (could be associated with reduced plasma HDL cholesterol; dbSNP:rs144588452). VAR_062509
144588452
Database cross-references
UniProt:
O95477
Ensembl:
ENST00000374736
MIM:
205400
MIM:
600046
MIM:
604091
neXtProt:
NX_O95477
Antibodypedia:
O95477
(may not find the protein thus also not any antibody)
Local full text data:
click here
Users' comments
Login to add a comment.