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

    Gene ID: 632, updated on 15-Jun-2019

    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
    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 Apr 4 07:08:55 2018

    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 
    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 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_199173.6NP_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
      Related
      ENSP00000357255.4, ENST00000368272.5
      Conserved Domains (1) summary
      smart00069
      Location:3397
      GLA; Domain containing Gla (gamma-carboxyglutamate) residues

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

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