BGLAP

Gene Information
 
Gene Symbol
BGLAP
 
Aliases
BGP, OC, OCN
 
Entrez Gene ID
632
 
Gene Name
Bone gamma-carboxyglutamate protein
 
Chromosomal Location
1q22
 
HGNC ID
 
Summary
This gene encodes a highly abundant bone protein secreted by osteoblasts that regulates bone remodeling and energy metabolism. The encoded protein contains a Gla (gamma carboxyglutamate) domain, which functions in binding to calcium and hydroxyapatite, the mineral component of bone. Serum osteocalcin levels may be negatively correlated with metabolic syndrome. Read-through transcription exists between this gene and the neighboring upstream gene, PMF1 (polyamine-modulated factor 1), but the encoded protein only shows sequence identity with the upstream gene product. [provided by RefSeq, Jun 2015]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0001501 Biological process Skeletal system development TAS 10865224
GO:0001503 Biological process Ossification IBA 21873635
GO:0001649 Biological process Osteoblast differentiation IBA 21873635
GO:0001649 Biological process Osteoblast differentiation IEP 17023519
GO:0007155 Biological process Cell adhesion NAS 12202187
Protein Information
 
Protein Name
Osteocalcin, bone gamma-carboxyglutamate (gla) protein (osteocalcin), gamma-carboxyglutamic acid-containing protein
 
Function
Constitutes 1-2% of the total bone protein. It binds strongly to apatite and calcium
 
Refseq Proteins
 
UniProt
Pathways
 
KEGG
 
Reactome
 

Parathyroid hormone synthesis, secretion and action

 

Gamma-carboxylation of protein precursors
Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
Removal of aminoterminal propeptides from gamma-carboxylated proteins

Interactions
 
STRING MINT IntAct
ENSP00000225831 P13500
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Heart Diseases
Endocrine System Diseases
PCOS
Neoplasms
Prostate cancer
Nutritional and Metabolic Diseases
Tumoral calcinosis
Gluocose Intolerance
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
Insulin resistance 
 
endocrine profile and ultrasonographic criteria 
Related 
 
These findings suggest a potential interaction between bone-derived markers and the metabolic/hormonal abnormalities observed in PCOS. 

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