InnateDB Protein
|
IDBP-72650.6
|
Last Modified
|
2014-10-13 [Report errors or provide feedback]
|
Gene Symbol
|
APOA1
|
Protein Name
|
apolipoprotein A-I
|
Synonyms
|
|
Species
|
Homo sapiens
|
Ensembl Protein
|
ENSP00000352471
|
InnateDB Gene
|
IDBG-72644 (APOA1)
|
Protein Structure
|
|
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. {ECO:0000269PubMed:1909888}.
|
Subcellular Localization |
Secreted.
|
Disease Associations |
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. {ECO:0000269PubMed:1502149, ECO:0000269PubMed:2123470, ECO:0000269PubMed:3142462, ECO:0000269PubMed:8208902}. Note=The disease is caused by mutations affecting the gene represented in this entry.
|
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. {ECO:0000269PubMed:12576517}.
|
Comments |
|
Number of Interactions
|
This gene and/or its encoded proteins are associated with 89 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated |
Total |
89
[view]
|
Protein-Protein |
86
[view]
|
Protein-DNA |
3
[view]
|
Protein-RNA |
0
|
DNA-DNA |
0
|
RNA-RNA |
0
|
DNA-RNA |
0
|
|
Predicted by orthology |
Total |
4 [view]
|
|
|
Molecular Function |
|
Biological Process |
|
Cellular Component |
|
PDB ID |
|
InterPro |
IPR000074
Apolipoprotein A1/A4/E
|
PFAM |
PF01442
|
PRINTS |
|
PIRSF |
|
SMART |
|
TIGRFAMs |
|
Modification |
|
SwissProt |
P02647
|
PhosphoSite |
PhosphoSite-P02647
|
TrEMBL |
A0A024R3E3
|
UniProt Splice Variant |
|
Entrez Gene |
335
|
UniGene |
|
RefSeq |
XP_005271596
|
HUGO |
HGNC:600
|
OMIM |
107680
|
CCDS |
CCDS8378
|
HPRD |
02517
|
IMGT |
|
EMBL |
A14829
AK292231
AY422952
AY555191
BC005380
BC110286
CH471065
EF444948
J00098
M11791
M27875
M29068
X00566
X01038
X02162
X07496
|
GenPept |
AAA35545
AAA51747
AAA62829
AAB59514
AAH05380
AAI10287
AAQ91811
AAS68227
ACA05932
ACA05933
ACA05934
ACA05935
ACA05936
BAF84920
CAA01198
CAA25232
CAA25519
CAA26097
CAA30377
EAW67274
EAW67275
EAW67276
|
|
|