LOCUS       NM_001718               3784 bp    mRNA    linear   PRI 23-APR-2024
DEFINITION  Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.
ACCESSION   NM_001718
VERSION     NM_001718.6
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 3784)
  AUTHORS   Arcanjo,G.S., Souza,M.B., Domingos,I.F., Pereira-Martins,D.A.,
            Falcao,D.A., Batista,J.V., Hatzlhofer,B.L., Diniz,M.V., Silva,A.P.,
            Guarana,W.L., Hazin,M.F., Araujo,A.S., Cunha,A.F., Saad,S.O.,
            Costa,F.F., Lucena-Araujo,A.R. and Bezerra,M.A.C.
  TITLE     BMP6 and VDR gene polymorphisms are associated with osteonecrosis
            in a sickle cell anaemia cohort
  JOURNAL   Br J Haematol 204 (4), 1507-1514 (2024)
   PUBMED   38323352
  REMARK    GeneRIF: BMP6 and VDR gene polymorphisms are associated with
            osteonecrosis in a sickle cell anaemia cohort.
REFERENCE   2  (bases 1 to 3784)
  AUTHORS   Xin,X., Chang,H.M., Leung,P.C.K., Dong,L., Li,J., Lian,F. and Wu,H.
  TITLE     Bone morphogenetic protein 6 induces downregulation of pentraxin 3
            expression in human granulosa lutein cells in women with polycystic
            ovary syndrome
  JOURNAL   J Assist Reprod Genet 41 (1), 31-48 (2024)
   PUBMED   37930517
  REMARK    GeneRIF: Bone morphogenetic protein 6 induces downregulation of
            pentraxin 3 expression in human granulosa lutein cells in women
            with polycystic ovary syndrome.
REFERENCE   3  (bases 1 to 3784)
  AUTHORS   Tang,H., Li,J., Li,J.K., He,S.H., Xiang,G., Rong,R., Liang,Z.T. and
            Zhang,H.Q.
  TITLE     BMP6 participates in the pathogenesis of adolescent idiopathic
            scoliosis by regulating osteopenia
  JOURNAL   J Cell Physiol 238 (11), 2586-2599 (2023)
   PUBMED   37795636
  REMARK    GeneRIF: BMP6 participates in the pathogenesis of adolescent
            idiopathic scoliosis by regulating osteopenia.
REFERENCE   4  (bases 1 to 3784)
  AUTHORS   Novak,R., Ahmad,Y.A., Timaner,M., Bitman-Lotan,E.,
            Oknin-Vaisman,A., Horwitz,R., Hartmann,O., Reissland,M., Buck,V.,
            Rosenfeldt,M., Nikomarov,D., Diefenbacher,M.E., Shaked,Y. and
            Orian,A.
  TITLE     RNF4 RGMb BMP6 axis required for osteogenic differentiation and
            cancer cell survival
  JOURNAL   Cell Death Dis 13 (9), 820 (2022)
   PUBMED   36153321
  REMARK    GeneRIF: RNF4~RGMb~BMP6 axis required for osteogenic
            differentiation and cancer cell survival.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3784)
  AUTHORS   Wang,R.N., Green,J., Wang,Z., Deng,Y., Qiao,M., Peabody,M.,
            Zhang,Q., Ye,J., Yan,Z., Denduluri,S., Idowu,O., Li,M., Shen,C.,
            Hu,A., Haydon,R.C., Kang,R., Mok,J., Lee,M.J., Luu,H.L. and
            Shi,L.L.
  TITLE     Bone Morphogenetic Protein (BMP) signaling in development and human
            diseases
  JOURNAL   Genes Dis 1 (1), 87-105 (2014)
   PUBMED   25401122
REFERENCE   6  (bases 1 to 3784)
  AUTHORS   Tamada,H., Kitazawa,R., Gohji,K., Kamidono,S., Maeda,S. and
            Kitazawa,S.
  TITLE     Molecular cloning and analysis of the 5'-flanking region of the
            human bone morphogenetic protein-6 (BMP-6)
  JOURNAL   Biochim Biophys Acta 1395 (3), 247-251 (1998)
   PUBMED   9512655
REFERENCE   7  (bases 1 to 3784)
  AUTHORS   Schluesener,H.J. and Meyermann,R.
  TITLE     Immunolocalization of BMP-6, a novel TGF-beta-related cytokine, in
            normal and atherosclerotic smooth muscle cells
  JOURNAL   Atherosclerosis 113 (2), 153-156 (1995)
   PUBMED   7605353
REFERENCE   8  (bases 1 to 3784)
  AUTHORS   Hahn,G.V., Cohen,R.B., Wozney,J.M., Levitz,C.L., Shore,E.M.,
            Zasloff,M.A. and Kaplan,F.S.
  TITLE     A bone morphogenetic protein subfamily: chromosomal localization of
            human genes for BMP5, BMP6, and BMP7
  JOURNAL   Genomics 14 (3), 759-762 (1992)
   PUBMED   1427904
REFERENCE   9  (bases 1 to 3784)
  AUTHORS   Sauermann,U., Meyermann,R. and Schluesener,H.J.
  TITLE     Cloning of a novel TGF-beta related cytokine, the vgr, from rat
            brain: cloning of and comparison to homologous human cytokines
  JOURNAL   J Neurosci Res 33 (1), 142-147 (1992)
   PUBMED   1453478
REFERENCE   10 (bases 1 to 3784)
  AUTHORS   Celeste,A.J., Iannazzi,J.A., Taylor,R.C., Hewick,R.M., Rosen,V.,
            Wang,E.A. and Wozney,J.M.
  TITLE     Identification of transforming growth factor beta family members
            present in bone-inductive protein purified from bovine bone
  JOURNAL   Proc Natl Acad Sci U S A 87 (24), 9843-9847 (1990)
   PUBMED   2263636
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK300628.1, AL135778.9,
            BF732376.1, M60315.1, BC099624.1, AL133541.21 and AA700487.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001718.5.
            
            Summary: This gene encodes a secreted ligand of the TGF-beta
            (transforming growth factor-beta) superfamily of proteins. Ligands
            of this family bind various TGF-beta receptors leading to
            recruitment and activation of SMAD family transcription factors
            that regulate gene expression. The encoded preproprotein is
            proteolytically processed to generate each subunit of the
            disulfide-linked homodimer. This protein regulates a wide range of
            biological processes including iron homeostasis, fat and bone
            development, and ovulation. Differential expression of this gene
            may be associated with progression of breast and prostate cancer.
            Mutations in this gene may be associated with iron overload in
            human patients. [provided by RefSeq, Jul 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: M60315.1, SRR1803611.262077.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000283147.7/ ENSP00000283147.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-311               AK300628.1         1-311
            312-323             AL135778.9         75089-75100
            324-698             BF732376.1         55-429              c
            699-1918            M60315.1           1-1220
            1919-2490           BC099624.1         808-1379
            2491-3133           M60315.1           1793-2435
            3134-3426           AL133541.21        77071-77363
            3427-3784           AA700487.1         24-381              c
FEATURES             Location/Qualifiers
     source          1..3784
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.3"
     gene            1..3784
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /note="bone morphogenetic protein 6"
                     /db_xref="GeneID:654"
                     /db_xref="HGNC:HGNC:1073"
                     /db_xref="MIM:112266"
     exon            1..1521
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /inference="alignment:Splign:2.1.0"
     CDS             858..2399
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /note="vegetal related growth factor (TGFB-related);
                     VG-1-R; VG-1-related protein"
                     /codon_start=1
                     /product="bone morphogenetic protein 6 preproprotein"
                     /protein_id="NP_001709.1"
                     /db_xref="CCDS:CCDS4503.1"
                     /db_xref="GeneID:654"
                     /db_xref="HGNC:HGNC:1073"
                     /db_xref="MIM:112266"
                     /translation="MPGLGRRAQWLCWWWGLLCSCCGPPPLRPPLPAAAAAAAGGQLL
                     GDGGSPGRTEQPPPSPQSSSGFLYRRLKTQEKREMQKEILSVLGLPHRPRPLHGLQQP
                     QPPALRQQEEQQQQQQLPRGEPPPGRLKSAPLFMLDLYNALSADNDEDGASEGERQQS
                     WPHEAASSSQRRQPPPGAAHPLNRKSLLAPGSGSGGASPLTSAQDSAFLNDADMVMSF
                     VNLVEYDKEFSPRQRHHKEFKFNLSQIPEGEVVTAAEFRIYKDCVMGSFKNQTFLISI
                     YQVLQEHQHRDSDLFLLDTRVVWASEEGWLEFDITATSNLWVVTPQHNMGLQLSVVTR
                     DGVHVHPRAAGLVGRDGPYDKQPFMVAFFKVSEVHVRTTRSASSRRRQQSRNRSTQSQ
                     DVARVSSASDYNSSELKTACRKHELYVSFQDLGWQDWIIAPKGYAANYCDGECSFPLN
                     AHMNATNHAIVQTLVHLMNPEYVPKPCCAPTKLNAISVLYFDDNSNVILKKYRNMVVR
                     ACGCH"
     exon            1522..1714
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1715..1863
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..2061
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2062..2138
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2139..2249
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /inference="alignment:Splign:2.1.0"
     exon            2250..3784
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3456..3461
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /note="hexamer: AATAAT"
     polyA_site      3475
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
     regulatory      3763..3768
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /note="hexamer: AATAAA"
     polyA_site      3784
                     /gene="BMP6"
                     /gene_synonym="IO; VGR; VGR1"
                     /note="major polyA site"
ORIGIN      
        1 agaaagccca cgttggccgc tgcggggagc gcggcgtgga gaggcgggag accgaattcc
       61 ggcgccgccg ccgcggccgc tgctcggtgc actagccccc ttccttccca tcctttctgc
      121 gagcgggttt gctgggcagc cgggcgaccg ccgaacggaa agcaagatcc tcgccgcctc
      181 cgcttgagga ggcgtgcggc gcgcggagat tttgagtggg agcgacggtg cccgagagct
      241 caggggcgcg gagttcgtga gcgagaagga agttaaacct cgcggaatag actggcattt
      301 cgggacgcct tgtcgccgca gcctgggccc tgcaacgggg taaacttcat ggtggccctg
      361 cgatctgggg aggggcgtgc gccacggtga tgccgggcat ctcccgcagc tcgtgagcgg
      421 ccccgctccc cgctgccccg ggtcccactc agtcgccagg gagagcgcgg ggcagcgcac
      481 gtgtgcggcc agcgaggccc agagtgaccg cgccgcgact cgcaggagcc agggcgcagg
      541 ctgcagtgca gcccggactc agacgcacct ggcctggacc gcgcgcctct agagacctgc
      601 gcgaggctgt gaggctcccc ttcctcccct ccaagcggtt ctcctggtga tcgccccttc
      661 gccacctctc tagcctgggc aactgggggc gccccggacg accatgagag ataaggactg
      721 agggccagga aggggaagcg agcccgccga gaggtggcgg ggactgctca cgccaagggc
      781 cacagcggcc gcgctccggc ctcgctccgc cgctccacgc ctcgcgggat ccgcgggggc
      841 agcccggccg ggcggggatg ccggggctgg ggcggagggc gcagtggctg tgctggtggt
      901 gggggctgct gtgcagctgc tgcgggcccc cgccgctgcg gccgcccttg cccgctgccg
      961 cggccgccgc cgccgggggg cagctgctgg gggacggcgg gagccccggc cgcacggagc
     1021 agccgccgcc gtcgccgcag tcctcctcgg gcttcctgta ccggcggctc aagacgcagg
     1081 agaagcggga gatgcagaag gagatcttgt cggtgctggg gctcccgcac cggccccggc
     1141 ccctgcacgg cctccaacag ccgcagcccc cggcgctccg gcagcaggag gagcagcagc
     1201 agcagcagca gctgcctcgc ggagagcccc ctcccgggcg actgaagtcc gcgcccctct
     1261 tcatgctgga tctgtacaac gccctgtccg ccgacaacga cgaggacggg gcgtcggagg
     1321 gggagaggca gcagtcctgg ccccacgaag cagccagctc gtcccagcgt cggcagccgc
     1381 ccccgggcgc cgcgcacccg ctcaaccgca agagccttct ggcccccgga tctggcagcg
     1441 gcggcgcgtc cccactgacc agcgcgcagg acagcgcctt cctcaacgac gcggacatgg
     1501 tcatgagctt tgtgaacctg gtggagtacg acaaggagtt ctcccctcgt cagcgacacc
     1561 acaaagagtt caagttcaac ttatcccaga ttcctgaggg tgaggtggtg acggctgcag
     1621 aattccgcat ctacaaggac tgtgttatgg ggagttttaa aaaccaaact tttcttatca
     1681 gcatttatca agtcttacag gagcatcagc acagagactc tgacctgttt ttgttggaca
     1741 cccgtgtagt atgggcctca gaagaaggct ggctggaatt tgacatcacg gccactagca
     1801 atctgtgggt tgtgactcca cagcataaca tggggcttca gctgagcgtg gtgacaaggg
     1861 atggagtcca cgtccacccc cgagccgcag gcctggtggg cagagacggc ccttacgaca
     1921 agcagccctt catggtggct ttcttcaaag tgagtgaggt gcacgtgcgc accaccaggt
     1981 cagcctccag ccggcgccga caacagagtc gtaatcgctc tacccagtcc caggacgtgg
     2041 cgcgggtctc cagtgcttca gattacaaca gcagtgaatt gaaaacagcc tgcaggaagc
     2101 atgagctgta tgtgagtttc caagacctgg gatggcagga ctggatcatt gcacccaagg
     2161 gctatgctgc caattactgt gatggagaat gctccttccc actcaacgca cacatgaatg
     2221 caaccaacca cgcgattgtg cagaccttgg ttcaccttat gaaccccgag tatgtcccca
     2281 aaccgtgctg tgcgccaact aagctaaatg ccatctcggt tctttacttt gatgacaact
     2341 ccaatgtcat tctgaaaaaa tacaggaata tggttgtaag agcttgtgga tgccactaac
     2401 tcgaaaccag atgctgggga cacacattct gccttggatt cctagattac atctgcctta
     2461 aaaaaacacg gaagcacagt tggaggtggg acgatgagac tttgaaacta tctcatgcca
     2521 gtgccttatt acccaggaag attttaaagg acctcattaa taatttgctc acttggtaaa
     2581 tgacgtgagt agttgttggt ctgtagcaag ctgagtttgg atgtctgtag cataaggtct
     2641 ggtaactgca gaaacataac cgtgaagctc ttcctaccct cctcccccaa aaacccacca
     2701 aaattagttt tagctgtaga tcaagctatt tggggtgttt gttagtaaat agggaaaata
     2761 atctcaaagg agttaaatgt attcttggct aaaggatcag ctggttcagt actgtctatc
     2821 aaaggtagat tttacagaga acagaaatcg gggaagtggg gggaacgcct ctgttcagtt
     2881 cattcccaga agtccacagg acgcacagcc caggccacag ccagggctcc acggggcgcc
     2941 cttgtctcag tcattgctgt tgtatgttcg tgctggagtt ttgttggtgt gaaaatacac
     3001 ttatttcagc caaaacatac catttctaca cctcaatcct ccatttgctg tactctttgc
     3061 tagtaccaaa agtagactga ttacactgag gtgaggctac aaggggtgtg taaccgtgta
     3121 acacgtgaag gcaatgctca cctcttcttt accagaacgg ttctttgacc agcacattaa
     3181 cttctggact gccggctcta gtaccttttc agtaaagtgg ttctctgcct ttttactata
     3241 cagcatacca cgccacaggg ttagaaccaa cgaagaaaat aaaatgaggg tgcccagctt
     3301 ataagaatgg tgttaggggg atgagcatgc tgtttatgaa cggaaatcat gatttccctt
     3361 gtagaaagtg aggctcagat taaattttag aatattttct aaatgtcttt ttcacaatca
     3421 tgtactggga aggcaatttc atactaaact gattaaataa tacatttata atctacaact
     3481 gtttgcactt acagcttttt ttgtaaatat aaactataat ttattgtcta ttttatatct
     3541 gttttgctgt aacattgaag gaaagaccag acttttaaaa aaaaagagtt tatttagaaa
     3601 gtatcatagt gtaaacaaac aaattgtacc actttgattt tcttggaata caagactcgt
     3661 gatgcaaagc tgaagttgtg tgtacaagac tcttgacagt tgtgcttctc taggaggttg
     3721 ggttttttta aaaaaagaat tatctgtgaa ccatacgtga ttaataaaga tttcctttaa
     3781 ggca
//
