FASN

Gene Information
 
Gene Symbol
FASN
 
Aliases
FAS, OA-519, SDR27X1
 
Entrez Gene ID
 
Gene Name
Fatty acid synthase
 
Chromosomal Location
17q25.3
 
HGNC ID
 
Summary
The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001649 Biological process Osteoblast differentiation HDA 16210410
GO:0006631 Biological process Fatty acid metabolic process TAS 7835891
GO:0016020 Cellular component Membrane HDA 16210410, 19946888
GO:0070062 Cellular component Extracellular exosome HDA 19056867, 20458337, 23533145
GO:0003723 Molecular function RNA binding HDA 22658674, 22681889
Protein Information
 
Protein Name
Fatty acid synthase, short chain dehydrogenase/reductase family 27X, member 1
 
Function
Fatty acid synthetase catalyzes the formation of long-chain fatty acids from acetyl-CoA, malonyl-CoA and NADPH. This multifunctional protein has 7 catalytic activities as an acyl carrier protein
 
UniProt
 
PDB
Pathways
 
KEGG
 
Reactome
 

Fatty acid biosynthesis
Metabolic pathways
Fatty acid metabolism
AMPK signaling pathway
Insulin signaling pathway

 

ChREBP activates metabolic gene expression
Vitamin B5 (pantothenate) metabolism
Activation of gene expression by SREBF (SREBP)
Fatty acyl-CoA biosynthesis
NR1H2 & NR1H3 regulate gene expression linked to lipogenesis

Interactions
 
STRING MINT IntAct
ENSP00000304592 P49327 P49327
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Myocardial Failure
Hypertensive disease
Atherosclerosis
Acute Coronary Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
PINK1 deficiency
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Lipid metabolism, Steroidogenesis and follicular growth 
 
 
Direct 
39 PCOS subjects and 30 PCOS controls 
The present study discloses decrease in insulin signaling proteins related to metabolism, lipogenic genes and steroidogenesis in PCOS-IR group as against decrease only in steroidogenesis in PCOS-NIR group. These differential signaling molecules ultimately might be involved in the prevalence of hyperinsulinemia and hyperandrogenemia in PCOS-IR group and intrinsic ovarian defects in PCOSNIR group leading to follicular arrest, poor oocyte growth as well as quality observed in different PCOS phenotypes. The study would aid in designing candidate molecules for targeted therapy towards the two different types of PCOS thus decreasing probability of reproductive failures. 

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