• Gene id: 632

Gene Summary

• Gene Symbol: BGLAP   Gene   UCSC   Ensembl
• Aliases: BGP, OC, OCN
• Gene name: bone gamma-carboxyglutamate protein
• Alternate names: osteocalcin, bone gamma-carboxyglutamate (gla) protein (osteocalcin), gamma-carboxyglutamic acid-containing protein,
• Gene location: 1q22 (156241961: 156243331)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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, th
• OMIM: 112260

Protein Summary

• Protein general information: P02818  
  • Name: Osteocalcin (Bone Gla protein) (BGP) (Gamma carboxyglutamic acid containing protein)
  • Length: 100  
  • Mass: 10,963
• Sequence:

  MRALTLLALLALAALCIAGQAGAKPSGAESSKGAAFVSKQEGSEVVKRPRRYLYQWLGAPVPYPDPLEPRREVCE
  LNPDCDELADHIGFQEAYRRFYGPV

• Structural information:
  • Protein Domains: Gla. (52-98)
  • Interpro: IPR035972  IPR000294  IPR002384  
  • Prosite: PS00011 PS50998
  • STRING: ENSP00000357255
• Other Databases: GeneCards:  BGLAP  Malacards:  BGLAP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system development	TAS	biological process
GO:0001649	osteoblast differentiation	IEP	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0006465	signal peptide processing	TAS	biological process
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007155	cell adhesion	NAS	biological process
GO:0007569	cell aging	IEA	biological process
GO:0008147	structural constituent of bone	NAS	molecular function
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0009629	response to gravity	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0017187	peptidyl-glutamic acid carboxylation	TAS	biological process
GO:0030282	bone mineralization	NAS	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030500	regulation of bone mineralization	IEA	biological process
GO:0032571	response to vitamin K	IEA	biological process
GO:0033280	response to vitamin D	IEP	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0033594	response to hydroxyisoflavone	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0043204	perikaryon	IEA	cellular component
GO:0043627	response to estrogen	IEA	biological process
GO:0045124	regulation of bone resorption	NAS	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045670	regulation of osteoclast differentiation	NAS	biological process
GO:0046848	hydroxyapatite binding	NAS	molecular function
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0071305	cellular response to vitamin D	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001503	ossification	IEA	biological process
GO:0001649	osteoblast differentiation	IEA	biological process
GO:0001649	osteoblast differentiation	IEP	biological process
GO:0002076	osteoblast development	IEA	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005615	extracellular space	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005791	rough endoplasmic reticulum	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0006465	signal peptide processing	TAS	biological process
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007155	cell adhesion	NAS	biological process
GO:0007568	aging	IEA	biological process
GO:0007569	cell aging	IEA	biological process
GO:0008147	structural constituent of bone	IEA	molecular function
GO:0008147	structural constituent of bone	NAS	molecular function
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0009629	response to gravity	IEA	biological process
GO:0010035	response to inorganic substance	IEA	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0017187	peptidyl-glutamic acid carboxylation	TAS	biological process
GO:0030282	bone mineralization	NAS	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030500	regulation of bone mineralization	IEA	biological process
GO:0031214	biomineral tissue development	IEA	biological process
GO:0031667	response to nutrient levels	IEA	biological process
GO:0032571	response to vitamin K	IEA	biological process
GO:0033280	response to vitamin D	IEP	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0033594	response to hydroxyisoflavone	IEA	biological process
GO:0042476	odontogenesis	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0043627	response to estrogen	IEA	biological process
GO:0045124	regulation of bone resorption	NAS	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045670	regulation of osteoclast differentiation	NAS	biological process
GO:0046848	hydroxyapatite binding	NAS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0060348	bone development	IEA	biological process
GO:0071305	cellular response to vitamin D	IEA	biological process
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:0001501	skeletal system development	TAS	biological process
GO:0001649	osteoblast differentiation	IEP	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0006465	signal peptide processing	TAS	biological process
GO:0006888	ER to Golgi vesicle-mediated transport	TAS	biological process
GO:0007155	cell adhesion	NAS	biological process
GO:0008147	structural constituent of bone	NAS	molecular function
GO:0017187	peptidyl-glutamic acid carboxylation	TAS	biological process
GO:0030282	bone mineralization	NAS	biological process
GO:0033280	response to vitamin D	IEP	biological process
GO:0045124	regulation of bone resorption	NAS	biological process
GO:0045670	regulation of osteoclast differentiation	NAS	biological process
GO:0046848	hydroxyapatite binding	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04928	Parathyroid hormone synthesis, secretion and action

Diseases

Associated diseases	References
Cancer	GAD: 12565780
Cancer (prostate)	GAD: 12565780
Hypertension	GAD: 18496130
Diabetes	GAD: 20592451
Osteonecrosis	GAD: 18285546
Osteoporosis	GAD: 18551993
Bone diseases	GAD: 12843190
Alzheimer's disease	GAD: 19141999
Polycystic ovary syndrome (PCOS)	INFBASE: 23339653
Polycystic ovary syndrome (PCOS)	INFBASE: 20694489
Male factor infertility	MIK: 23696116
Male factor infertility	MIK: 23696116
Hypogonadotropic hypogonadism	MIK: 20671406
Hypogonadotropic hypogonadism	INFBASE: 20671406
Cryptorchidism	MIK: 28606200
Hypogonadism	MIK: 20671406
Male infertility	MIK: 23696116

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20671406	Hypogonadism, Male infertility			40 (10 hypogonadal, 30 eugonadal)	Male infertility	OCN
23696116	Male infertility			159 young male adults from infertile couples	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq