ADIPOQ

Gene Information
 
Gene Symbol
ADIPOQ
 
Aliases
ACDC, ACRP30, ADIPQTL1, ADPN, APM-1, APM1, GBP28
 
Entrez Gene ID
 
Gene Name
Adiponectin, C1Q and collagen domain containing
 
Chromosomal Location
3q27
 
HGNC ID
 
Summary
This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.
 
GeneCards ID
 
UniGene
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0001934 Biological process Positive regulation of protein phosphorylation IDA 18431508
GO:0006006 Biological process Glucose metabolic process ISS 12368907
GO:0006091 Biological process Generation of precursor metabolites and energy TAS 10095105
GO:0006635 Biological process Fatty acid beta-oxidation ISS 12368907
GO:0009749 Biological process Response to glucose stimulus ISS 12368907
Protein Information
 
Protein Name
ADIPQTL1 , adipose most abundant gene transcript 1 protein, ACDC , 30 kDa adipocyte complement-related protein , APM1 , gelatin-binding protein 28 , adipocyte, C1Q and collagen domain containing , adiponectin, C1Q and collagen domain containing, ACRP30 , adipocyte complement-related 30 kDa protein , Adipocyte complement-related 30 kDa protein , APM-1 , Adipocyte, C1q and collagen domain-containing protein , Gelatin-binding protein , adiponectin , ADPN , GBP28 , AdipoQ , Adipose most abundant gene transcript 1 protein , apM-1 , apM1 , adipose specific collagen-like factor
 
Function
Important adipokine involved in the control of fat metabolism and insulin sensitivity, with direct anti-diabetic, anti-atherogenic and anti-inflammatory activities. Stimulates AMPK phosphorylation and activation in the liver and the skeletal muscle, enhancing glucose utilization and fatty-acid combustion. Antagonizes TNF-alpha by negatively regulating its expression in various tissues such as liver and macrophages, and also by counteracting its effects. Inhibits endothelial NF-kappa-B signaling through a cAMP-dependent pathway. May play a role in cell growth, angiogenesis and tissue remodeling by binding and sequestering various growth factors with distinct binding affinities, depending on the type of complex, LMW, MMW or HMW
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
 
Pfam
Pfam Accession Pfam ID
PF00386 C1q C1q domain
PF01391 Collagen Collagen triple helix repeat (20 copies)
 
KEGG
 
OMIM
 
Phenotype MIM ID
 
Interactions
STRING MINT I2D
ENSP00000320709 Q15848

Associated Diseases

Diseases References
Acromegaly 15519253, 19723758, 16379314, 12780751, 19880791, 15653112
Albuminuria 18431508, 16219717, 17917505, 16188522, 15292342, 17805239, 16123486, 16709438, 19589122
Anorexia nervosa 14517770, 15945489, 16921786, 12920654, 17705672, 17327386, 15070952, 15793670, 15687326, 17953628, 17063798, 18657008, 15598689
Apnea sleep 18786982, 15761179, 19913847, 17033258, 19090328
Arteriosclerosis 18332637, 16613757, 18464944, 18670142
   
References
 
Primary:

High-molecular-weight adiponectin is selectively reduced in women with polycystic ovary syndrome independent of body mass index and severity of insulin resistance.

O'Connor A, Phelan N, Tun T Kyaw, Boran G, Gibney J, Roche H M
Nutrigenomics Research Group, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Belfield, Dublin 4, Ireland.
J Clin Endocrinol Metab. 2010 Mar;95(3):1378-85. Epub 2010 Jan 15.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS 
rs1501299 
 
Direct 
224 unrelated Han Chinese PCOS patients and parents 
TDT confirms that SNP rs1501299 in the ADIPOQ is significantly associated with the risk of PCOS in the Chinese Han population. The three SNP of the ADIPOQ were not associated with the obesity of PCOS. 
NPPA 
PCOS 
 
Rotterdam criteria 
Direct 
40 PCOS patients, 36 controls 
Women with PCOS had lower ANP and adiponectin compared with controls matched for age and BMI. Thus, the mechanisms that affect ANP and adiponectin production and clearance may be altered in PCOS, regardless of adiposity. These hormones may be involved in the metabolic features of PCOS. 
 
PCOS, Blood Pressure 
Haplotype TGTG from SNP 45T/G and 276G/T 
 
Related 
80 women with PCOS and 1500 non-hirsute controls 
Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to susceptibility to PCOS, and might be associated with increased blood pressure in PCOS. 
 
PCOS 
 
Rotterdam criteria 
Related 
118 young Taiwanese women with PCOS 
The study demonstrates that adiponectin is an independent biomarker that is positively and evidently related to HDL-C and TGs in women with PCOS 
IGFBP-3, TNF 
PCOS, insulin sensitivity 
 
NICHD criteria 
Related 
40 women with PCOS and 40 age- and body mass index (BMI)-matched regular cycling women (controls) 
IGFBP-3 and TNF levels were not associated with insulin sensitivity, but adiponectin levels were related to insulin sensitivity in women with PCOS. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
24906976
Adiponectin, interleukin-6, monocyte chemoattractant protein-1, and regional fat mass during 12-month randomized treatment with metformin and/or oral contraceptives in polycystic ovary syndrome. 
Effect of treatment 
24260557, PMC3834317
Serum concentrations of fibroblast growth factors 19 and 21 in women with gestational diabetes mellitus: association with insulin resistance, adiponectin, and polycystic ovary syndrome history. 
Clinical study 
23017309
Effects of omega-3 fatty acids supplementation on serum adiponectin levels and some metabolic risk factors in women with polycystic ovary syndrome. 
Effect of treatment 
22849614
Increase in subcutaneous adipose tissue and fat free mass in women with polycystic ovary syndrome is related to impaired insulin sensitivity. 
Clinical study 
22607892
Adipose expression of adipocytokines in women with polycystic ovary syndrome. 
Clinical study 

 

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