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

Gene ID: 632, updated on 4-Jan-2025

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
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Genomic context

See BGLAP in Genome Data Viewer
Location:
1q22
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (156242184..156243317)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (155380641..155381774)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156211975..156213108)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1853 Neighboring gene solute carrier family 25 member 44 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1856 Neighboring gene PMF1-BGLAP readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1422 Neighboring gene polyamine modulated factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1857 Neighboring gene BGLAP promoter region Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1423 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1424 Neighboring gene Sharpr-MPRA regulatory region 3040 Neighboring gene progestin and adipoQ receptor family member 6 Neighboring gene SMG5 nonsense mediated mRNA decay factor Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:156250697-156251670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1425 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:156252643-156253614 Neighboring gene Sharpr-MPRA regulatory regions 9834 and 13552 Neighboring gene transmembrane protein 79

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

General gene information

Readthrough PMF1-BGLAP

Readthrough gene: PMF1-BGLAP, Included gene: PMF1

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding  
enables hormone activity PubMed 
enables hydroxyapatite binding  
enables hydroxyapatite binding PubMed 
enables protein binding PubMed 
enables structural constituent of bone  
enables structural constituent of bone  
enables structural constituent of bone PubMed 
enables structural molecule activity PubMed 
Items 1 - 25 of 38
Process Evidence Code Pubs
involved_in bone development  
involved_in bone mineralization PubMed 
involved_in brain development PubMed 
involved_in cell adhesion PubMed 
involved_in cellular response to growth factor stimulus  
involved_in cellular response to insulin stimulus  
involved_in cellular response to vitamin D  
involved_in cellular response to zinc ion starvation  
involved_in cognition PubMed 
involved_in glucose homeostasis  
involved_in learning or memory  
involved_in negative regulation of bone development  
involved_in osteoblast development  
involved_in osteoblast differentiation  
involved_in osteoblast differentiation PubMed 
involved_in positive regulation of neurotransmitter secretion PubMed 
involved_in regulation of bone mineralization  
involved_in regulation of bone resorption PubMed 
involved_in regulation of cellular response to insulin stimulus  
involved_in regulation of osteoclast differentiation PubMed 
involved_in regulation of testosterone biosynthetic process  
involved_in response to activity  
involved_in response to estrogen  
involved_in response to ethanol  
involved_in response to glucocorticoid  
involved_in response to gravity  
involved_in response to hydroxyisoflavone  
involved_in response to macrophage colony-stimulating factor  
involved_in response to mechanical stimulus  
involved_in response to testosterone  
involved_in response to vitamin D PubMed 
involved_in response to vitamin K  
involved_in response to xenobiotic stimulus  
involved_in response to zinc ion  
involved_in signal transduction  
involved_in skeletal system development PubMed 
involved_in stem cell differentiation  
involved_in type B pancreatic cell proliferation  
Items 1 - 25 of 38
Component Evidence Code Pubs
located_in Golgi lumen  
located_in cytoplasm PubMed 
located_in dendrite  
located_in endoplasmic reticulum lumen  
is_active_in extracellular region  
is_active_in extracellular region PubMed 
located_in extracellular space  
located_in perikaryon  
located_in vesicle  

General protein information

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.

Genomic

  1. NG_047015.1 RefSeqGene

    Range
    5025..6158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_199173.6NP_954642.1  osteocalcin preproprotein

    See identical proteins and their annotated locations for NP_954642.1

    Status: REVIEWED

    Source sequence(s)
    BC113432, BQ774541
    Consensus CDS
    CCDS1134.1
    UniProtKB/Swiss-Prot
    P02818, Q5TCK6
    Related
    ENSP00000357255.4, ENST00000368272.5
    Conserved Domains (1) summary
    smart00069
    Location:3397
    GLA; Domain containing Gla (gamma-carboxyglutamate) residues

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    156242184..156243317
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    155380641..155381774
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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