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protein fatso (fat mass & obesity-associated protein, FTO, KIAA1752)
Function:
- role in mitochondrial thermogenesis
- inhibits ARID5B [3]
- lipid metabolism (putative)
Structure: belongs to the fatso family
Compartment:
Alternative splicing: named isoforms=4
Expression:
- ubiquitously expressed
- relatively high expression in adrenal glands & brain
- in brain, higher expression in hypothalamus & pituitary
Polymorphism:
- at least one intronic variation within gene carried by 46% of Western Europeans
a) predisposes to childhood & adult obesity
- in the elderly, mean BMI 27.1 in carriers vs 25.6 in non carriers
b) allele associated with diminished brain volume in the elderly
c) allele not associated with lower mini-mental status exam (MMSE) scores, although higher BMIs were [2]
- the FTO allele rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for the ARID5B repressor, leading to derepression of a preadipocyte enhancer & overexpression of IRX3 & IRX5 skewing development of adipocytes more toward white fat, which store energy as fat, & less toward brown fat, which burn energy via their mitochondria [3]
Genetics:
- protein called 'Fatso' (Fto) due to large size of gene
General
other protein
Properties
SIZE: MW = 58 kD
entity length = 505 aa
Database Correlations
UniProt Q9C0B1
References
- UniProt :accession Q9C0B1
- Ho AJ et al.
A commonly carried allele of the obesity-related FTO gene
is associated with reduced brain volume in the healthy elderly.
Proc Natl Acad Sci U S A 2010 May 4; 107:8404.
PMID: 20404173
- Claussnitzer M et al
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
N Engl J Med. 2015 Aug 19. [Epub ahead of print]
PMID: 26287746
http://www.nejm.org/doi/full/10.1056/NEJMoa1502214
- Rosen CJ, Ingelfinger JR.
Unraveling the Function of FTO Variants.
N Engl J Med. 2015 Aug 19. [Epub ahead of print]
PMID: 26287747
http://www.nejm.org/doi/full/10.1056/NEJMe1508683