LOCUS       NM_199173                506 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens bone gamma-carboxyglutamate protein (BGLAP), mRNA.
ACCESSION   NM_199173 NM_000711
VERSION     NM_199173.6
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 506)
  AUTHORS   Nowicki,J.K. and Jakubowska-Pietkiewicz,E.
  TITLE     Osteocalcin: Beyond Bones
  JOURNAL   Endocrinol Metab (Seoul) 39 (3), 399-406 (2024)
   PUBMED   38803289
  REMARK    GeneRIF: Osteocalcin: Beyond Bones.
            Review article
REFERENCE   2  (bases 1 to 506)
  AUTHORS   Sanyal,S., Rajput,S., Sadhukhan,S., Rajender,S., Mithal,A. and
            Chattopadhyay,N.
  TITLE     Polymorphisms in the Runx2 and osteocalcin genes affect BMD in
            postmenopausal women: a systematic review and meta-analysis
  JOURNAL   Endocrine 84 (1), 63-75 (2024)
   PUBMED   38055125
  REMARK    GeneRIF: Polymorphisms in the Runx2 and osteocalcin genes affect
            BMD in postmenopausal women: a systematic review and meta-analysis.
REFERENCE   3  (bases 1 to 506)
  AUTHORS   Jarjees,Z. and Sarhat,E.
  TITLE     ASSESSMENT OF OSTEOPONTIN, SCLEROSTIN, AND OSTEOCALCIN LEVELS IN
            PATIENTS WITH HYPOTHYROIDISM ON MEDICAL THERAPY
  JOURNAL   Georgian Med News (347), 131-135 (2024)
   PUBMED   38609129
  REMARK    GeneRIF: ASSESSMENT OF OSTEOPONTIN, SCLEROSTIN, AND OSTEOCALCIN
            LEVELS IN PATIENTS WITH HYPOTHYROIDISM ON MEDICAL THERAPY.
REFERENCE   4  (bases 1 to 506)
  AUTHORS   Sharma,V.C., Vidyasagar,S., Sukumar,C.A., Krishna,B. N and Shree,S.
  TITLE     Association between serum osteocalcin and atherosclerosis in Type-2
            diabetes mellitus: a cross-sectional study
  JOURNAL   BMC Endocr Disord 23 (1), 269 (2023)
   PUBMED   38053107
  REMARK    GeneRIF: Association between serum osteocalcin and atherosclerosis
            in Type-2 diabetes mellitus: a cross-sectional study.
            Erratum:[BMC Endocr Disord. 2024 Jan 19;24(1):11. doi:
            10.1186/s12902-024-01538-z.. PMID: 38243261]
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 506)
  AUTHORS   Xiang,Y., Lu,W., Mao,X., Zou,J., Wang,J., Xu,R. and Tang,Q.
  TITLE     Osteocalcin has a muscle-protective effect during weight loss in
            men without metabolic syndrome: a multicenter, prospective,
            observational study
  JOURNAL   Front Endocrinol (Lausanne) 14, 1308452 (2023)
   PUBMED   38093960
  REMARK    GeneRIF: Osteocalcin has a muscle-protective effect during weight
            loss in men without metabolic syndrome: a multicenter, prospective,
            observational study.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 506)
  AUTHORS   Ferron,M. and Lacombe,J.
  TITLE     Regulation of energy metabolism by the skeleton: osteocalcin and
            beyond
  JOURNAL   Arch Biochem Biophys 561, 137-146 (2014)
   PUBMED   24893146
  REMARK    GeneRIF: In this review, we summarize the current knowledge on
            osteocalcin functions, its various modes of action and the
            mechanisms implicated in the control of this hormone. [review]
            Review article
REFERENCE   7  (bases 1 to 506)
  AUTHORS   Cancela,L., Hsieh,C.L., Francke,U. and Price,P.A.
  TITLE     Molecular structure, chromosome assignment, and promoter
            organization of the human matrix Gla protein gene
  JOURNAL   J Biol Chem 265 (25), 15040-15048 (1990)
   PUBMED   2394711
REFERENCE   8  (bases 1 to 506)
  AUTHORS   Kiefer,M.C., Saphire,A.C., Bauer,D.M. and Barr,P.J.
  TITLE     The cDNA and derived amino acid sequences of human and bovine bone
            Gla protein
  JOURNAL   Nucleic Acids Res 18 (7), 1909 (1990)
   PUBMED   2336375
REFERENCE   9  (bases 1 to 506)
  AUTHORS   Puchacz,E., Lian,J.B., Stein,G.S., Wozney,J., Huebner,K. and
            Croce,C.
  TITLE     Chromosomal localization of the human osteocalcin gene
  JOURNAL   Endocrinology 124 (5), 2648-2650 (1989)
   PUBMED   2785029
REFERENCE   10 (bases 1 to 506)
  AUTHORS   Celeste,A.J., Rosen,V., Buecker,J.L., Kriz,R., Wang,E.A. and
            Wozney,J.M.
  TITLE     Isolation of the human gene for bone gla protein utilizing mouse
            and rat cDNA clones
  JOURNAL   EMBO J 5 (8), 1885-1890 (1986)
   PUBMED   3019668
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC113432.1 and BQ774541.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_199173.5.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BU622466.1, CA428336.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368272.5/ ENSP00000357255.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-441               BC113432.1         25-465
            442-506             BQ774541.1         33-97               c
FEATURES             Location/Qualifiers
     source          1..506
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q22"
     gene            1..506
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /note="bone gamma-carboxyglutamate protein"
                     /db_xref="GeneID:632"
                     /db_xref="HGNC:HGNC:1043"
                     /db_xref="MIM:112260"
     exon            1..112
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /inference="alignment:Splign:2.1.0"
     CDS             49..351
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /note="bone gamma-carboxyglutamate (gla) protein
                     (osteocalcin); gamma-carboxyglutamic acid-containing
                     protein"
                     /codon_start=1
                     /product="osteocalcin preproprotein"
                     /protein_id="NP_954642.1"
                     /db_xref="CCDS:CCDS1134.1"
                     /db_xref="GeneID:632"
                     /db_xref="HGNC:HGNC:1043"
                     /db_xref="MIM:112260"
                     /translation="MRALTLLALLALAALCIAGQAGAKPSGAESSKGAAFVSKQEGSE
                     VVKRPRRYLYQWLGAPVPYPDPLEPRREVCELNPDCDELADHIGFQEAYRRFYGPV"
     exon            113..151
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /inference="alignment:Splign:2.1.0"
     exon            152..221
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /inference="alignment:Splign:2.1.0"
     exon            222..506
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /inference="alignment:Splign:2.1.0"
     regulatory      487..492
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /note="hexamer: AATAAA"
     polyA_site      506
                     /gene="BGLAP"
                     /gene_synonym="BGP; OC; OCN"
                     /note="major polyA site"
ORIGIN      
        1 aggccagctg agtcctgagc agcagcccag cgcagccacc gagacaccat gagagccctc
       61 acactcctcg ccctattggc cctggccgca ctttgcatcg ctggccaggc aggtgcgaag
      121 cccagcggtg cagagtccag caaaggtgca gcctttgtgt ccaagcagga gggcagcgag
      181 gtagtgaaga gacccaggcg ctacctgtat caatggctgg gagccccagt cccctacccg
      241 gatcccctgg agcccaggag ggaggtgtgt gagctcaatc cggactgtga cgagttggct
      301 gaccacatcg gctttcagga ggcctatcgg cgcttctacg gcccggtcta gggtgtcgct
      361 ctgctggcct ggccggcaac cccagttctg ctcctctcca ggcacccttc tttcctcttc
      421 cccttgccct tgccctgacc tcccagccct atggatgtgg ggtccccatc atcccagctg
      481 ctcccaaata aactccagaa gaggaa
//
