Bglap bone gamma carboxyglutamate protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bglapprovided by MGI
Official Full Name: bone gamma carboxyglutamate proteinprovided by MGI
Primary source: MGI:MGI:88156
See related: Ensembl:ENSMUSG00000074483 AllianceGenome:MGI:88156
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: OC; BGP; OG1; mOC-A; Bglap1
Summary: This gene encodes one of the most abundant non-collagenous proteins in bone tissue that is localized to the mineralized matrix of bone. The encoded preproprotein undergoes proteolytic processing and post-translational gamma carboxylation to generate a mature, calcium-binding protein. Mice lacking the encoded protein develop abnormalities of bone remodelling. This gene is located adjacent to two other osteocalcin-related genes on chromosome 3. [provided by RefSeq, Oct 2015]
Expression: Biased expression in colon adult (RPKM 5.0), bladder adult (RPKM 3.9) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 F1; 3 38.82 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (88290802..88291773, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (88383495..88384466, complement)

Chromosome 3 - NC_000069.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel Function of Osteocalcin in Chondrocyte Differentiation and Endochondral Ossification Revealed on a CRISPR/Cas9 bglap-bglap2 Deficiency Mouse Model.
Title: Novel Function of Osteocalcin in Chondrocyte Differentiation and Endochondral Ossification Revealed on a CRISPR/Cas9 bglap-bglap2 Deficiency Mouse Model.
Ocn is required for bone quality and strength by adjusting the alignment of Biological apatite crystallites parallel to collagen fibrils; but it does not function as a hormone.
Title: Osteocalcin is necessary for the alignment of apatite crystallites, but not glucose metabolism, testosterone synthesis, or muscle mass.
Absence of endocrine effects in mice with this new Bglap knockout allele.
Title: An osteocalcin-deficient mouse strain without endocrine abnormalities.
activation of the OCN/GPR158 pathway increases the expression of RbAp48 in the aged dentate gyrus and rescues age-related memory loss.
Title: RbAp48 Protein Is a Critical Component of GPR158/OCN Signaling and Ameliorates Age-Related Memory Loss.
expression in offspring bone not changed by maternal high fat diet
Title: Maternal high-fat diet and offspring expression levels of vitamin K-dependent proteins.
the uncarboxylated form of osteocalcin does not trigger Akt phosphorylation and glucose uptake by itself but promotes insulin-induced glucose uptake in myotubes, probably by up-regulating Akt signaling through ERK activation
Title: Promotion of insulin-induced glucose uptake in C2C12 myotubes by osteocalcin.
The Twist2-Cre, Osterix-Cre and osteocalcin-Cre lines to generate conditional beta1 integrin deletions, were used to investigate the role of beta1 integrins on skeletal phenotype.
Title: The effect of conditional inactivation of beta 1 integrins using twist 2 Cre, Osterix Cre and osteocalcin Cre lines on skeletal phenotype.
OCN is gamma-carboxylated by the gamma-carboxylase (GGCX) on three glutamic acid residues, a cellular process requiring reduction of vitamin K by a second enzyme, VKORC1.
Title: GGCX and VKORC1 inhibit osteocalcin endocrine functions.
results showed an increase in the expression of Cbfa1 and OCN in fibroblasts and osteoblasts exposed to fluoride.
Title: Expression of core-binding factor α1 and osteocalcin in fluoride-treated fibroblasts and osteoblasts.
Data indicate that Ca2+ binding triggered a similar conformational transition in both gamma-carboxyglutamic acid-containing protein osteocalcin (Gla-OCN) and Glu-OCN from a disordered structure to a more compact/stable form.
Title: Carboxylation-dependent conformational changes of human osteocalcin.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Bglap1 (e-PCR), detects polymorphism
- UniSTS:280395

PMC34669P2 (e-PCR)
- UniSTS:273228

Bglap1 (e-PCR), detects polymorphism
- UniSTS:141174

NoName (e-PCR)
- UniSTS:484830

Bglap-rs1 (e-PCR), detects polymorphism
- UniSTS:256998

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables hormone activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables hydroxyapatite binding	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of bone	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of bone	IMP Inferred from Mutant Phenotype more info	PubMed
enables structural constituent of bone	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in bone development	IBA Inferred from Biological aspect of Ancestor more info
involved_in bone development	IEA Inferred from Electronic Annotation more info
involved_in brain development	IDA Inferred from Direct Assay more info	PubMed
involved_in brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cellular response to BMP stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to insulin stimulus	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cognition	IDA Inferred from Direct Assay more info	PubMed
involved_in cognition	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in learning or memory	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in osteoblast differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of neurotransmitter secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neurotransmitter secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of bone mineralization	IEA Inferred from Electronic Annotation more info
involved_in regulation of cellular response to insulin stimulus	IEA Inferred from Electronic Annotation more info
involved_in regulation of testosterone biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of testosterone biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to vitamin K	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in type B pancreatic cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in type B pancreatic cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in extracellular region	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
is_active_in extracellular region	IMP Inferred from Mutant Phenotype more info	PubMed
located_in extracellular region	ISO Inferred from Sequence Orthology more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in vesicle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: osteocalcin

Names: bone Gla protein; bone gamma carboxyglutamate protein 1; 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.

mRNA and Protein(s)

NM_007541.3 → NP_031567.1 osteocalcin preproprotein

See identical proteins and their annotated locations for NP_031567.1

Status: REVIEWED

Source sequence(s)

AA856059, CJ326308

Consensus CDS

CCDS17474.1

UniProtKB/Swiss-Prot

P86546

Related

ENSMUSP00000075425.5, ENSMUST00000076048.5

Conserved Domains (1) summary

smart00069
Location:31 → 91

GLA; Domain containing Gla (gamma-carboxyglutamate) residues

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

88290802..88291773 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001037939.2: Suppressed sequence

Description

NM_001037939.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.