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

Gene ID: 632, updated on 12-Aug-2018

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; Vega:OTTHUMG00000014819
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

Genomic context

See BGLAP in Genome Data Viewer
Location:
1q22
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (156241962..156243332)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156211951..156213123)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 44 Neighboring gene PMF1-BGLAP readthrough Neighboring gene polyamine modulated factor 1 Neighboring gene BGLAP promoter region Neighboring gene progestin and adipoQ receptor family member 6 Neighboring gene SMG5, nonsense mediated mRNA decay factor Neighboring gene transmembrane protein 79 Neighboring gene Sharpr-MPRA regulatory regions 9834 and 13552 Neighboring gene glycosylated lysosomal membrane protein

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study of hematological and biochemical traits in a Japanese population.
NHGRI GWA Catalog

HIV-1 interactions

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

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PMF1-BGLAP

Readthrough gene: PMF1-BGLAP, Included gene: PMF1

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
hydroxyapatite binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydroxyapatite binding NAS
Non-traceable Author Statement
more info
PubMed 
structural constituent of bone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of bone NAS
Non-traceable Author Statement
more info
PubMed 
structural molecule activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
bone development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bone development IEA
Inferred from Electronic Annotation
more info
 
bone mineralization NAS
Non-traceable Author Statement
more info
PubMed 
cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
cell aging IEA
Inferred from Electronic Annotation
more info
 
cellular response to growth factor stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to vitamin D IEA
Inferred from Electronic Annotation
more info
 
odontogenesis IEA
Inferred from Electronic Annotation
more info
 
ossification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
osteoblast development IEA
Inferred from Electronic Annotation
more info
 
osteoblast differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
osteoblast differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
regulation of bone resorption NAS
Non-traceable Author Statement
more info
PubMed 
regulation of cellular response to insulin stimulus IEA
Inferred from Electronic Annotation
more info
 
regulation of osteoclast differentiation NAS
Non-traceable Author Statement
more info
PubMed 
response to activity IEA
Inferred from Electronic Annotation
more info
 
response to estrogen IEA
Inferred from Electronic Annotation
more info
 
response to ethanol IEA
Inferred from Electronic Annotation
more info
 
response to glucocorticoid IEA
Inferred from Electronic Annotation
more info
 
response to gravity IEA
Inferred from Electronic Annotation
more info
 
response to hydroxyisoflavone IEA
Inferred from Electronic Annotation
more info
 
response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
response to testosterone IEA
Inferred from Electronic Annotation
more info
 
response to vitamin D IEP
Inferred from Expression Pattern
more info
PubMed 
response to vitamin K IEA
Inferred from Electronic Annotation
more info
 
response to zinc ion IEA
Inferred from Electronic Annotation
more info
 
skeletal system development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi lumen TAS
Traceable Author Statement
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
dendrite IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
rough endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_047015.1 RefSeqGene

    Range
    4803..6173
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_199173.5NP_954642.1  osteocalcin preproprotein

    See identical proteins and their annotated locations for NP_954642.1

    Status: REVIEWED

    Source sequence(s)
    AL135927, BC113432, BQ774541, BU622466
    Consensus CDS
    CCDS1134.1
    UniProtKB/Swiss-Prot
    P02818
    Related
    ENSP00000357255.4, OTTHUMP00000016586, ENST00000368272.4, OTTHUMT00000040867
    Conserved Domains (1) summary
    smart00069
    Location:3397
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    156241962..156243332
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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