BGLAP bone gamma-carboxyglutamate protein [Homo sapiens (human)] - Gene

Summary

Official Symbol: BGLAPprovided by HGNC
Official Full Name: bone gamma-carboxyglutamate proteinprovided by HGNC
Primary source: HGNC:HGNC:1043
See related: Ensembl:ENSG00000242252 MIM:112260; AllianceGenome:HGNC:1043
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: OC; BGP; OCN
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]
Expression: Ubiquitous expression in endometrium (RPKM 1.6), prostate (RPKM 1.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q22

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (156242184..156243317)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (155380641..155381774)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (156211975..156213108)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Polymorphisms in the Runx2 and osteocalcin genes affect BMD in postmenopausal women: a systematic review and meta-analysis.
Title: Polymorphisms in the Runx2 and osteocalcin genes affect BMD in postmenopausal women: a systematic review and meta-analysis.
Osteocalcin has a muscle-protective effect during weight loss in men without metabolic syndrome: a multicenter, prospective, observational study.
Title: Osteocalcin has a muscle-protective effect during weight loss in men without metabolic syndrome: a multicenter, prospective, observational study.
Association between serum osteocalcin and atherosclerosis in Type-2 diabetes mellitus: a cross-sectional study.
Title: Association between serum osteocalcin and atherosclerosis in Type-2 diabetes mellitus: a cross-sectional study.
To investigate the association of serum osteocalcin with cognitive functional status in patients with type 2 diabetes: A systematic review with meta-analysis.
Title: To investigate the association of serum osteocalcin with cognitive functional status in patients with type 2 diabetes: A systematic review with meta-analysis.
Low total osteocalcin levels are associated with the risk of cardiovascular events among women with hyperglycaemia: a 7.6-year prospective study.
Title: Low total osteocalcin levels are associated with the risk of cardiovascular events among women with hyperglycaemia: a 7.6-year prospective study.
Osteocalcin: A Multifaceted Bone-Derived Hormone.
Title: Osteocalcin: A Multifaceted Bone-Derived Hormone.
Brief Report: Undercarboxylated Osteocalcin Is Associated With Cognition in Women With and Without HIV.
Title: Brief Report: Undercarboxylated Osteocalcin Is Associated With Cognition in Women With and Without HIV.
The role of osteocalcin in regulation of glycolipid metabolism and muscle function in children with osteogenesis imperfecta.
Title: The role of osteocalcin in regulation of glycolipid metabolism and muscle function in children with osteogenesis imperfecta.
RS 2247911 polymorphism of GPRC6A gene and serum undercarboxylated-osteocalcin are associated with testis function.
Title: RS 2247911 polymorphism of GPRC6A gene and serum undercarboxylated-osteocalcin are associated with testis function.
Low total osteocalcin levels are associated with all-cause and cardiovascular mortality among patients with type 2 diabetes: a real-world study.
Title: Low total osteocalcin levels are associated with all-cause and cardiovascular mortality among patients with type 2 diabetes: a real-world study.

Submit: New GeneRIF Correction See all GeneRIFs (242)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	HIV-1 Gag reduces osteoblast function and significantly reduces the levels of BMP-2, BMP-7, osteocalcin, and RANK-L	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

A003B36 (e-PCR)
- UniSTS:22362

PMC351321P3 (e-PCR)
- UniSTS:273244

STS-X04143 (e-PCR)
- UniSTS:27258

RH11125 (e-PCR)
- UniSTS:47303

RH12024 (e-PCR)
- UniSTS:31712

NoName (e-PCR)
- UniSTS:485876

Readthrough PMF1-BGLAP

Readthrough gene: PMF1-BGLAP, Included gene: PMF1

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables hormone activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables hydroxyapatite binding	IBA Inferred from Biological aspect of Ancestor more info
enables hydroxyapatite binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of bone	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of bone	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of bone	NAS Non-traceable Author Statement more info	PubMed
enables structural molecule activity	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in bone development	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone mineralization	NAS Non-traceable Author Statement more info	PubMed
involved_in brain development	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in cell adhesion	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to vitamin D	IEA Inferred from Electronic Annotation more info
involved_in cellular response to zinc ion starvation	IEA Inferred from Electronic Annotation more info
involved_in cognition	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in dephosphorylation	IEA Inferred from Electronic Annotation more info
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in learning or memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of bone development	ISS Inferred from Sequence or Structural Similarity more info
involved_in osteoblast development	IEA Inferred from Electronic Annotation more info
involved_in osteoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in osteoblast differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in positive regulation of neurotransmitter secretion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in regulation of bone resorption	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in regulation of osteoclast differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of testosterone biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to gravity	IEA Inferred from Electronic Annotation more info
involved_in response to hydroxyisoflavone	IEA Inferred from Electronic Annotation more info
involved_in response to macrophage colony-stimulating factor	IEA Inferred from Electronic Annotation more info
involved_in response to mechanical stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to testosterone	IEA Inferred from Electronic Annotation more info
involved_in response to vitamin D	IEP Inferred from Expression Pattern more info	PubMed
involved_in response to vitamin K	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in response to zinc ion	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in skeletal system development	TAS Traceable Author Statement more info	PubMed
involved_in stem cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in type B pancreatic cell proliferation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular region	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in extracellular space	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in vesicle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: osteocalcin

Names: bone gamma-carboxyglutamate (gla) protein (osteocalcin); gamma-carboxyglutamic acid-containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.