apolipoprotein A1 (APOA1)
Jump to navigation
Jump to search
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
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
- 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)
More general terms
More specific terms
Additional terms
Component of
References
- ↑ Tietz Textbook of Clinical Chemistry, 2nd ed. Burtis CA & Ashwood ER (eds), WB Saunders Co, Philadelphia PA, 1993, pg 1021
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=335
- ↑ UniProt http://www.uniprot.org/uniprot/P02647.html
- ↑ 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
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=335
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:335
- OMIM: https://mirror.omim.org/entry/105200
- OMIM: https://mirror.omim.org/entry/107680
- OMIM: https://mirror.omim.org/entry/205400
- OMIM: https://mirror.omim.org/entry/604091
- UniProt: http://www.uniprot.org/uniprot/P02647.html