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apolipoprotein A1 (APOA1)
Function:
- role in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues & by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT)
- as part of the SPAP complex, activates spermatozoa motility
- phosphorylation sites are present in plasma
- interacts with APOA1BP & CLU.
- component of a sperm activating protein complex
- interacts with NDRG1
Structure:
- palmitoylated
- Met-110 & Met-136 are oxidized to methionine sulfoxides
- belongs to the apolipoprotein A1/A4/E family
Compartment: secreted
Expression:
- major protein of plasma HDL
- also found in chylomicrons
- synthesized in the liver & small intestine
Pathology:
- oxidized form at Met-110 & Met-136 is increased in individuals with increased risk for coronary artery disease, such as in carrier of the eNOSa/b genotype & exposure to cigarette smoking
- present in increased levels in aortic lesions relative to native apoA-I & increased levels are seen with increasing severity of disease
- defects in APOA1 are a cause of
- familial HDL deficiency type 2
- low HDL levels observed in HDL deficiency type 1
- amyloidosis type 8
- a mutation in APOA1 is the cause of amyloid polyneuropathy-nephropathy Iowa type (AMYLIOWA)
Related
apolipoprotein A1/B in serum
Specific
apolipoprotein A1 variant (APOA1 variant)
ETC-216
General
apolipoprotein A
phosphoprotein
Properties
SIZE: entity length = 267 aa
MW = 31 kD
COMPARTMENT: plasma
MOTIF: signal sequence {1-18}
consensus repeat {68-89}
consensus repeat {90-111}
consensus repeat {112-122}
consensus repeat {123-144}
consensus repeat {145-166}
consensus repeat {167-188}
consensus repeat {189-210}
MOTIF: Ser phosphorylation site {S191}
consensus repeat {211-232}
consensus repeat {233-243}
consensus repeat {244-267}
MISC-INFO: 1/2life 2-5 DAYS
Database Correlations
OMIM correlations
MORBIDMAP 107680
UniProt P02647
Pfam PF01442
Entrez Gene 335
Kegg hsa:335
References
- Tietz Textbook of Clinical Chemistry, 2nd ed.
Burtis CA & Ashwood ER (eds), WB Saunders Co,
Philadelphia PA, 1993, pg 1021
- Entrez Gene :accession 335
- UniProt :accession P02647
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/APOA1
- SHMPD; Singapore human mutation and polymorphism database
http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOA1
Component-of
sperm activating protein complex (SPAP)