LOCUS       NM_006129               3593 bp    mRNA    linear   PRI 06-AUG-2024
DEFINITION  Homo sapiens bone morphogenetic protein 1 (BMP1), transcript
            variant 3, mRNA.
ACCESSION   NM_006129
VERSION     NM_006129.5
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 3593)
  AUTHORS   Wang,Y., Chen,Y., Wu,J. and Shi,X.
  TITLE     BMP1 Promotes Keloid by Inducing Fibroblast Inflammation and
            Fibrogenesis
  JOURNAL   J Cell Biochem 125 (7), e30609 (2024)
   PUBMED   38860429
  REMARK    GeneRIF: BMP1 Promotes Keloid by Inducing Fibroblast Inflammation
            and Fibrogenesis.
REFERENCE   2  (bases 1 to 3593)
  AUTHORS   Wan,S., Liu,X., Sun,R., Liu,H., Jiang,J. and Wu,B.
  TITLE     Activated hepatic stellate cell-derived Bmp-1 induces liver
            fibrosis via mediating hepatocyte epithelial-mesenchymal transition
  JOURNAL   Cell Death Dis 15 (1), 41 (2024)
   PUBMED   38216590
  REMARK    GeneRIF: Activated hepatic stellate cell-derived Bmp-1 induces
            liver fibrosis via mediating hepatocyte epithelial-mesenchymal
            transition.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3593)
  AUTHORS   Mast,J.F., Leach,E.A.E. and Thompson,T.B.
  TITLE     Characterization of erythroferrone oligomerization and its impact
            on BMP antagonism
  JOURNAL   J Biol Chem 300 (1), 105452 (2024)
   PUBMED   37949218
  REMARK    GeneRIF: Characterization of erythroferrone oligomerization and its
            impact on BMP antagonism.
REFERENCE   4  (bases 1 to 3593)
  AUTHORS   Mazur-Hart,D.J., Yamamoto,E.A., Yoo,J. and Orina,J.N.
  TITLE     Bone morphogenetic protein and cancer in spinal fusion: a
            propensity score-matched analysis
  JOURNAL   J Neurosurg Spine 39 (6), 722-728 (2023)
   PUBMED   37657115
  REMARK    GeneRIF: Bone morphogenetic protein and cancer in spinal fusion: a
            propensity score-matched analysis.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3593)
  AUTHORS   Janitz,M., Heiser,V., Bottcher,U., Landt,O. and Lauster,R.
  TITLE     Three alternatively spliced variants of the gene coding for the
            human bone morphogenetic protein-1
  JOURNAL   J Mol Med (Berl) 76 (2), 141-146 (1998)
   PUBMED   9500680
REFERENCE   6  (bases 1 to 3593)
  AUTHORS   Takahara,K., Lee,S., Wood,S. and Greenspan,D.S.
  TITLE     Structural organization and genetic localization of the human bone
            morphogenetic protein 1/mammalian tolloid gene
  JOURNAL   Genomics 29 (1), 9-15 (1995)
   PUBMED   8530106
REFERENCE   7  (bases 1 to 3593)
  AUTHORS   Takahara,K., Lyons,G.E. and Greenspan,D.S.
  TITLE     Bone morphogenetic protein-1 and a mammalian tolloid homologue
            (mTld) are encoded by alternatively spliced transcripts which are
            differentially expressed in some tissues
  JOURNAL   J Biol Chem 269 (51), 32572-32578 (1994)
   PUBMED   7798260
REFERENCE   8  (bases 1 to 3593)
  AUTHORS   Yoshiura,K., Tamura,T., Hong,H.S., Ohta,T., Soejima,H., Kishino,T.,
            Jinno,Y. and Niikawa,N.
  TITLE     Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21:
            removal of BMP1 from candidacy for the bone disorder in
            Langer-Giedion syndrome
  JOURNAL   Cytogenet Cell Genet 64 (3-4), 208-209 (1993)
   PUBMED   8404039
REFERENCE   9  (bases 1 to 3593)
  AUTHORS   Tabas,J.A., Zasloff,M., Wasmuth,J.J., Emanuel,B.S., Altherr,M.R.,
            McPherson,J.D., Wozney,J.M. and Kaplan,F.S.
  TITLE     Bone morphogenetic protein: chromosomal localization of human genes
            for BMP1, BMP2A, and BMP3
  JOURNAL   Genomics 9 (2), 283-289 (1991)
   PUBMED   2004778
REFERENCE   10 (bases 1 to 3593)
  AUTHORS   Wozney,J.M., Rosen,V., Celeste,A.J., Mitsock,L.M., Whitters,M.J.,
            Kriz,R.W., Hewick,R.M. and Wang,E.A.
  TITLE     Novel regulators of bone formation: molecular clones and activities
  JOURNAL   Science 242 (4885), 1528-1534 (1988)
   PUBMED   3201241
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC136679.1 and BU627735.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_006129.4.
            
            Summary: This gene encodes a protein that is capable of inducing
            formation of cartilage in vivo. Although other bone morphogenetic
            proteins are members of the TGF-beta superfamily, this gene encodes
            a protein that is not closely related to other known growth
            factors. This gene is expressed as alternatively spliced variants
            that share an N-terminal protease domain but differ in their
            C-terminal region. [provided by RefSeq, Aug 2008].
            
            Transcript Variant: This variant (3, also known as BMP1-3) differs
            in the 3' coding region and 3' UTR, compared to variant 1. The
            resulting isoform (3) has a distinct C-terminus and is longer than
            isoform 1.
            
            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 :: BC142953.1, SRR1803614.64736.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306385.10/ ENSP00000305714.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3159              BC136679.1         49-3207
            3160-3593           BU627735.1         17-450              c
FEATURES             Location/Qualifiers
     source          1..3593
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8p21.3"
     gene            1..3593
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /note="bone morphogenetic protein 1"
                     /db_xref="GeneID:649"
                     /db_xref="HGNC:HGNC:1067"
                     /db_xref="MIM:112264"
     exon            1..182
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     CDS             35..2995
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /EC_number="3.4.24.19"
                     /note="isoform 3 precursor is encoded by transcript
                     variant 3; procollagen C-endopeptidase; tolloid-like;
                     mammalian tolloid protein; procollagen C-proteinase 3"
                     /codon_start=1
                     /product="bone morphogenetic protein 1 isoform 3
                     precursor"
                     /protein_id="NP_006120.1"
                     /db_xref="CCDS:CCDS6026.1"
                     /db_xref="GeneID:649"
                     /db_xref="HGNC:HGNC:1067"
                     /db_xref="MIM:112264"
                     /translation="MPGVARLPLLLGLLLLPRPGRPLDLADYTYDLAEEDDSEPLNYK
                     DPCKAAAFLGDIALDEEDLRAFQVQQAVDLRRHTARKSSIKAAVPGNTSTPSCQSTNG
                     QPQRGACGRWRGRSRSRRAATSRPERVWPDGVIPFVIGGNFTGSQRAVFRQAMRHWEK
                     HTCVTFLERTDEDSYIVFTYRPCGCCSYVGRRGGGPQAISIGKNCDKFGIVVHELGHV
                     VGFWHEHTRPDRDRHVSIVRENIQPGQEYNFLKMEPQEVESLGETYDFDSIMHYARNT
                     FSRGIFLDTIVPKYEVNGVKPPIGQRTRLSKGDIAQARKLYKCPACGETLQDSTGNFS
                     SPEYPNGYSAHMHCVWRISVTPGEKIILNFTSLDLYRSRLCWYDYVEVRDGFWRKAPL
                     RGRFCGSKLPEPIVSTDSRLWVEFRSSSNWVGKGFFAVYEAICGGDVKKDYGHIQSPN
                     YPDDYRPSKVCIWRIQVSEGFHVGLTFQSFEIERHDSCAYDYLEVRDGHSESSTLIGR
                     YCGYEKPDDIKSTSSRLWLKFVSDGSINKAGFAVNFFKEVDECSRPNRGGCEQRCLNT
                     LGSYKCSCDPGYELAPDKRRCEAACGGFLTKLNGSITSPGWPKEYPPNKNCIWQLVAP
                     TQYRISLQFDFFETEGNDVCKYDFVEVRSGLTADSKLHGKFCGSEKPEVITSQYNNMR
                     VEFKSDNTVSKKGFKAHFFSDKDECSKDNGGCQQDCVNTFGSYECQCRSGFVLHDNKH
                     DCKEAGCDHKVTSTSGTITSPNWPDKYPSKKECTWAISSTPGHRVKLTFMEMDIESQP
                     ECAYDHLEVFDGRDAKAPVLGRFCGSKKPEPVLATGSRMFLRFYSDNSVQRKGFQASH
                     ATECGGQVRADVKTKDLYSHAQFGDNNYPGGVDCEWVIVAEEGYGVELVFQTFEVEEE
                     TDCGYDYMELFDGYDSTAPRLGRYCGSGPPEEVYSAGDSVLVKFHSDDTITKKGFHLR
                     YTSTKFQDTLHSRK"
     exon            183..296
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            297..467
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            468..585
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            586..764
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            765..870
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            871..995
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            996..1111
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1112..1214
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1331
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1332..1477
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1478..1673
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1674..1799
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1960
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2141
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            2142..2267
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            2268..2395
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            2396..2609
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            2610..2860
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     exon            2861..3593
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3569..3574
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /note="hexamer: AATAAA"
     polyA_site      3593
                     /gene="BMP1"
                     /gene_synonym="OI13; PCOLC; PCP; PCP2; TLD"
                     /note="major polyA site"
ORIGIN      
        1 agtgcgccgc ttccctcgcc gccgccccgc cagcatgccc ggcgtggccc gcctgccgct
       61 gctgctcggg ctgctgctgc tcccgcgtcc cggccggccg ctggacttgg ccgactacac
      121 ctatgacctg gcggaggagg acgactcgga gcccctcaac tacaaagacc cctgcaaggc
      181 ggctgccttt cttggggaca ttgccctgga cgaagaggac ctgagggcct tccaggtaca
      241 gcaggctgtg gatctcagac ggcacacagc tcgtaagtcc tccatcaaag ctgcagttcc
      301 aggaaacact tctaccccca gctgccagag caccaacggg cagcctcaga ggggagcctg
      361 tgggagatgg agaggtagat cccgtagccg gcgggcggcg acgtcccgac cagagcgtgt
      421 gtggcccgat ggggtcatcc cctttgtcat tgggggaaac ttcactggta gccagagggc
      481 agtcttccgg caggccatga ggcactggga gaagcacacc tgtgtcacct tcctggagcg
      541 cactgacgag gacagctata ttgtgttcac ctatcgacct tgcgggtgct gctcctacgt
      601 gggtcgccgc ggcgggggcc cccaggccat ctccatcggc aagaactgtg acaagttcgg
      661 cattgtggtc cacgagctgg gccacgtcgt cggcttctgg cacgaacaca ctcggccaga
      721 ccgggaccgc cacgtttcca tcgttcgtga gaacatccag ccagggcagg agtataactt
      781 cctgaagatg gagcctcagg aggtggagtc cctgggggag acctatgact tcgacagcat
      841 catgcattac gctcggaaca cattctccag gggcatcttc ctggatacca ttgtccccaa
      901 gtatgaggtg aacggggtga aacctcccat tggccaaagg acacggctca gcaaggggga
      961 cattgcccaa gcccgcaagc tttacaagtg cccagcctgt ggagagaccc tgcaagacag
     1021 cacaggcaac ttctcctccc ctgaataccc caatggctac tctgctcaca tgcactgcgt
     1081 gtggcgcatc tctgtcacac ccggggagaa gatcatcctg aacttcacgt ccctggacct
     1141 gtaccgcagc cgcctgtgct ggtacgacta tgtggaggtc cgagatggct tctggaggaa
     1201 ggcgcccctc cgaggccgct tctgcgggtc caaactccct gagcctatcg tctccactga
     1261 cagccgcctc tgggttgaat tccgcagcag cagcaattgg gttggaaagg gcttctttgc
     1321 agtctacgaa gccatctgcg ggggtgatgt gaaaaaggac tatggccaca ttcaatcgcc
     1381 caactaccca gacgattacc ggcccagcaa agtctgcatc tggcggatcc aggtgtctga
     1441 gggcttccac gtgggcctca cattccagtc ctttgagatt gagcgccacg acagctgtgc
     1501 ctacgactat ctggaggtgc gcgacgggca cagtgagagc agcaccctca tcgggcgcta
     1561 ctgtggctat gagaagcctg atgacatcaa gagcacgtcc agccgcctct ggctcaagtt
     1621 cgtctctgac gggtccatta acaaagcggg ctttgccgtc aactttttca aagaggtgga
     1681 cgagtgctct cggcccaacc gcgggggctg tgagcagcgg tgcctcaaca ccctgggcag
     1741 ctacaagtgc agctgtgacc ccgggtacga gctggcccca gacaagcgcc gctgtgaggc
     1801 tgcttgtggc ggattcctca ccaagctcaa cggctccatc accagcccgg gctggcccaa
     1861 ggagtacccc cccaacaaga actgcatctg gcagctggtg gcccccaccc agtaccgcat
     1921 ctccctgcag tttgacttct ttgagacaga gggcaatgat gtgtgcaagt acgacttcgt
     1981 ggaggtgcgc agtggactca cagctgactc caagctgcat ggcaagttct gtggttctga
     2041 gaagcccgag gtcatcacct cccagtacaa caacatgcgc gtggagttca agtccgacaa
     2101 caccgtgtcc aaaaagggct tcaaggccca cttcttctca gacaaggacg agtgctccaa
     2161 ggataacggc ggctgccagc aggactgcgt caacacgttc ggcagttatg agtgccaatg
     2221 ccgcagtggc ttcgtcctcc atgacaacaa gcacgactgc aaagaagccg gctgtgacca
     2281 caaggtgaca tccaccagtg gtaccatcac cagccccaac tggcctgaca agtatcccag
     2341 caagaaggag tgcacgtggg ccatctccag cacccccggg caccgggtca agctgacctt
     2401 catggagatg gacatcgagt cccagcctga gtgtgcctac gaccacctag aggtgttcga
     2461 cgggcgagac gccaaggccc ccgtcctcgg ccgcttctgt gggagcaaga agcccgagcc
     2521 cgtcctggcc acaggcagcc gcatgttcct gcgcttctac tcagataact cggtccagcg
     2581 aaagggcttc caggcctccc acgccacaga gtgcgggggc caggtacggg cagacgtgaa
     2641 gaccaaggac ctttactccc acgcccagtt tggcgacaac aactaccctg ggggtgtgga
     2701 ctgtgagtgg gtcattgtgg ccgaggaagg ctacggcgtg gagctcgtgt tccagacctt
     2761 tgaggtggag gaggagaccg actgcggcta tgactacatg gagctcttcg acggctacga
     2821 cagcacagcc cccaggctgg ggcgctactg tggctcaggg cctcctgagg aggtgtactc
     2881 ggcgggagat tctgtcctgg tgaagttcca ctcggatgac accatcacca aaaaaggttt
     2941 ccacctgcga tacaccagca ccaagttcca ggacacactc cacagcagga agtgaccact
     3001 gcctgagcag gggcggggac tggagcctgc tgcccttggt cgcctagact ggatagtggg
     3061 ggtgggcgga aggcaacgca ccatccctct cccccaggcc ccaggacctg cagggccaat
     3121 ggcctggtga gactgtccat aggaggtggg ggaactggac tccggcataa gccacttccc
     3181 cacaaacccc caccagcaag gggctggggc cagggagcag agcttccaca agacatttcg
     3241 aagtcatcat tcctctctta gggggccctg cctggtggca agagggaatg tcagcaggac
     3301 cccatcgcca tccctgtgtc tctacacgct gtattgtgta tcaccggggg cattattttc
     3361 attgtaatgt tcatttccca cccctgctcc agcctcgatt tggttttatt ttgagccccc
     3421 attccaccac cccagtttcc tggggcacaa gtgtctgtgc atgtccccca ggagccaccg
     3481 tggggagccg atggggaggg gatggagaaa caagacaggg cttctctcag gcccagtggc
     3541 cggtcagcca caccagggca ccgcagccaa taaaccgaaa gtgttacagc caa
//
