APOA1_HUMAN
Source:
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence:
medium (present in either hRBCD or BSc_CH or PM22954596)
Search PubMed for
(RBC AND this entry)
Gene names:
APOA1
Protein names and data:
APOA1_HUMAN
, Apolipoprotein A-I; Apo-AI; ApoA-I
, Apolipoprotein A1; Truncated apolipoprotein A-I; Apolipoprotein A-I(1-242); Flags: Precursor
Lenght: 267 a.a.
Mass: 30778 Da
fasta formatted sequence
Function:
Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility.
Disease:
( OMIM:
105200
107680
205400
604091
)
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. 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. Note=APOA1 mutations may be involved in the pathogenesis of amyloid polyneuropathy-nephropathy Iowa type, also known as amyloidosis van Allen type or familial amyloid polyneuropathy type III (PubMed:3142462 and PubMed:2123470). The clinical picture is dominated by neuropathy in the early stages of the disease and nephropathy late in the course. Death is due in most cases to renal amyloidosis. Amyloidosis 8 (AMYL8) [MIM:105200]: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location:
Secreted.
Tissue specificity:
Major protein of plasma HDL, also found in chylomicrons. Synthesized in the liver and small intestine. The oxidized form at Met-110 and Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype and exposure to cigarette smoking. It is also present in increased levels in aortic lesions relative to native ApoA-I and increased levels are seen with increasing severity of disease.
Genetic variants
Genetic variations in APOA1 can result in APOA1 deficiency and are associated with low levels of HDL cholesterol [MIM:107680].
27 - 27
P -> H (in Munster-3C; dbSNP:rs121912720). VAR_000605
121912720
27 - 27
P -> R (in dbSNP:rs121912720). VAR_000606
121912720
28 - 28
P -> R (in Munster-3B). VAR_000607
34 - 34
R -> L (in Baltimore; dbSNP:rs28929476). VAR_000608
28929476
50 - 50
G -> R (in AMYL8; also found in a family with amyloid polyneuropathy-nephropathy Iowa; dbSNP:rs28931574). VAR_000609
28931574
61 - 61
A -> T (in dbSNP:rs12718465). VAR_025445
12718465
84 - 84
L -> R (in AMYL8). VAR_000610
92 - 92
T -> I (polymorphism confirmed at protein level). VAR_017017
113 - 113
D -> E. VAR_000611
119 - 119
A -> D (in Hita). VAR_000612
126 - 126
D -> H (in dbSNP:rs5077). VAR_016189
5077
127 - 127
D -> N (in Munster-3A). VAR_000613
131 - 131
K -> M (in dbSNP:rs4882). VAR_000615
4882
131 - 131
Missing (in Marburg/Munster-2). VAR_000614
132 - 132
W -> R (in Tsushima). VAR_000616
134 - 134
E -> K (in Fukuoka). VAR_000617
160 - 160
E -> K (in Norway). VAR_000618
163 - 163
E -> G. VAR_000619
167 - 167
P -> R (in Giessen). VAR_000620
168 - 168
L -> R (in Zaragoza). VAR_000621
171 - 171
E -> V. VAR_000622
180 - 180
V -> E (in Oita; 60% of normal apoA-I and normal HDL cholesterol levels. Rapidly cleared from plasma). VAR_021362
184 - 184
R -> P (in dbSNP:rs5078). VAR_014609
5078
189 - 189
P -> R. VAR_000623
197 - 197
R -> C (in Milano; associated with decreased HDL levels and moderate increases in triglycerides; no evidence of association with premature vascular disease; dbSNP:rs28931573). VAR_000624
28931573
222 - 222
E -> K (in Munster-4). VAR_000625
Database cross-references
UniProt:
P02647
Ensembl:
ENST00000236850
Ensembl:
ENST00000359492
Ensembl:
ENST00000375320
Ensembl:
ENST00000375323
MIM:
105200
MIM:
107680
MIM:
205400
MIM:
604091
neXtProt:
NX_P02647
Antibodypedia:
P02647
(may not find the protein thus also not any antibody)
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