LOCUS       NM_001127217            5558 bp    mRNA    linear   PRI 18-NOV-2024
DEFINITION  Homo sapiens SMAD family member 9 (SMAD9), transcript variant a,
            mRNA.
ACCESSION   NM_001127217 XM_005266400
VERSION     NM_001127217.3
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 5558)
  AUTHORS   Que,X., Ren,L., Yang,L., Wang,L., Li,J., Wu,R. and Chen,Q.
  TITLE     Long noncoding RNA BMPR1B-AS1 stability regulated by IGF2BP2
            affects the decidualization in endometriosis patients through the
            SMAD1/5/9 pathway
  JOURNAL   FASEB J 38 (9), e23622 (2024)
   PUBMED   38703029
  REMARK    GeneRIF: Long noncoding RNA BMPR1B-AS1 stability regulated by
            IGF2BP2 affects the decidualization in endometriosis patients
            through the SMAD1/5/9 pathway.
REFERENCE   2  (bases 1 to 5558)
  AUTHORS   Chen,H., Li,C., Zhou,T., Li,X., Duarte,M.E.L., Daubs,M.D.,
            Buser,Z., Brochmann,E.J., Wang,J.C., Murray,S.S., Jiao,L. and
            Tian,H.
  TITLE     Secreted phosphoprotein 24 kD (Spp24) inhibits the growth of human
            osteosarcoma through the BMP-2/Smad signaling pathway
  JOURNAL   J Orthop Res 41 (8), 1803-1814 (2023)
   PUBMED   36883270
  REMARK    GeneRIF: Secreted phosphoprotein 24 kD (Spp24) inhibits the growth
            of human osteosarcoma through the BMP-2/Smad signaling pathway.
REFERENCE   3  (bases 1 to 5558)
  AUTHORS   Sugii,H., Albougha,M.S., Adachi,O., Tomita,H., Tomokiyo,A.,
            Hamano,S., Hasegawa,D., Yoshida,S., Itoyama,T. and Maeda,H.
  TITLE     Activin A Promotes Osteoblastic Differentiation of Human
            Preosteoblasts through the ALK1-Smad1/5/9 Pathway
  JOURNAL   Int J Mol Sci 22 (24), 13491 (2021)
   PUBMED   34948289
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5558)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (bases 1 to 5558)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 5558)
  AUTHORS   Liu,F., Pouponnot,C. and Massague,J.
  TITLE     Dual role of the Smad4/DPC4 tumor suppressor in TGFbeta-inducible
            transcriptional complexes
  JOURNAL   Genes Dev 11 (23), 3157-3167 (1997)
   PUBMED   9389648
REFERENCE   7  (bases 1 to 5558)
  AUTHORS   Topper,J.N., Cai,J., Qiu,Y., Anderson,K.R., Xu,Y.Y., Deeds,J.D.,
            Feeley,R., Gimeno,C.J., Woolf,E.A., Tayber,O., Mays,G.G.,
            Sampson,B.A., Schoen,F.J., Gimbrone,M.A. Jr. and Falb,D.
  TITLE     Vascular MADs: two novel MAD-related genes selectively inducible by
            flow in human vascular endothelium
  JOURNAL   Proc Natl Acad Sci U S A 94 (17), 9314-9319 (1997)
   PUBMED   9256479
REFERENCE   8  (bases 1 to 5558)
  AUTHORS   Watanabe,T.K., Suzuki,M., Omori,Y., Hishigaki,H., Horie,M.,
            Kanemoto,N., Fujiwara,T., Nakamura,Y. and Takahashi,E.
  TITLE     Cloning and characterization of a novel member of the human Mad
            gene family (MADH6)
  JOURNAL   Genomics 42 (3), 446-451 (1997)
   PUBMED   9205116
REFERENCE   9  (bases 1 to 5558)
  AUTHORS   Hoodless,P.A., Haerry,T., Abdollah,S., Stapleton,M., O'Connor,M.B.,
            Attisano,L. and Wrana,J.L.
  TITLE     MADR1, a MAD-related protein that functions in BMP2 signaling
            pathways
  JOURNAL   Cell 85 (4), 489-500 (1996)
   PUBMED   8653785
REFERENCE   10 (bases 1 to 5558)
  AUTHORS   Austin,E.D., Phillips,J.A. III and Loyd,J.E.
  TITLE     Heritable Pulmonary Arterial Hypertension Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301658
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from CN291481.1, AL138706.9,
            BC011559.1 and D83760.1.
            
            On Dec 27, 2019 this sequence version replaced NM_001127217.2.
            
            Summary: The protein encoded by this gene is a member of the SMAD
            family, which transduces signals from TGF-beta family members. The
            encoded protein is activated by bone morphogenetic proteins and
            interacts with SMAD4. Two transcript variants encoding different
            isoforms have been found for this gene.[provided by RefSeq, Jan
            2010].
            
            Transcript Variant: This variant (a) represents the longer
            transcript and encodes the longer isoform (a).
            
            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 :: SRR14038193.141442.1,
                                           SRR14038197.2342399.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379826.5/ ENSP00000369154.4
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-45                CN291481.1         41-85
            46-51               AL138706.9         77232-77237         c
            52-169              CN291481.1         86-203
            170-254             BC011559.1         1-85
            255-1745            D83760.1           1-1491
            1746-5558           AL138706.9         1875-5687           c
FEATURES             Location/Qualifiers
     source          1..5558
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q13.3"
     gene            1..5558
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /note="SMAD family member 9"
                     /db_xref="GeneID:4093"
                     /db_xref="HGNC:HGNC:6774"
                     /db_xref="MIM:603295"
     exon            1..123
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            124..721
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /inference="alignment:Splign:2.1.0"
     CDS             310..1713
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /EC_number="2.4.1.117"
                     /note="isoform a is encoded by transcript variant a;
                     Mothers against decapentaplegic, drosophila, homolog of,
                     9; MAD homolog 9; SMAD, mothers against DPP homolog 9"
                     /codon_start=1
                     /product="mothers against decapentaplegic homolog 9
                     isoform a"
                     /protein_id="NP_001120689.1"
                     /db_xref="CCDS:CCDS45032.1"
                     /db_xref="GeneID:4093"
                     /db_xref="HGNC:HGNC:6774"
                     /db_xref="MIM:603295"
                     /translation="MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKK
                     LKKKKGAMDELERALSCPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQ
                     SHHELKPLECCEFPFGSKQKEVCINPYHYRRVETPVLPPVLVPRHSEYNPQLSLLAKF
                     RSASLHSEPLMPHNATYPDSFQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPES
                     PYQHSVDTPPLPYHATEASETQSGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSV
                     AYYELNNRVGETFQASSRSVLIDGFTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGK
                     GVHLYYVGGEVYAECVSDSSIFVQSRNCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQ
                     LLAQSVHHGFEVVYELTKMCTIRMSFVKGWGAEYHRQDVTSTPCWIEIHLHGPLQWLD
                     KVLTQMGSPHNPISSVS"
     exon            722..979
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            980..1090
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            1091..1312
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            1313..1569
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /inference="alignment:Splign:2.1.0"
     exon            1570..5558
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3666..3671
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /note="hexamer: TATAAA"
     polyA_site      3687
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
     regulatory      5537..5542
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /note="hexamer: AATAAA"
     polyA_site      5558
                     /gene="SMAD9"
                     /gene_synonym="MADH6; MADH9; PPH2; SMAD8; SMAD8/9; SMAD8A;
                     SMAD8B"
                     /note="major polyA site"
ORIGIN      
        1 agtctgactg acgccggctg gggccgccgc cgccgccgcc gccgccgccg ctgctgcagc
       61 cgctgtctcg gtccccgccg ccgccgccgg gccctgcagg cgctgggcgc gcgcagccag
      121 gcaagttggc caccctgttc aagggcttag gagaaagtca acacacttcg caacttgaat
      181 tggtcccagc tgctcccaga agaacgggcg ggttggtccc tatgccaccc ctggagagct
      241 actcgccgcc cactttgccg tgaagggctg tgcggttccc gtgcgcgccg gagcctgctg
      301 tggcctctta tgcactccac cacccccatc agctccctct tctccttcac cagccccgca
      361 gtgaagagac tgctaggctg gaagcaagga gatgaagagg aaaagtgggc agagaaggca
      421 gtggactctc tagtgaagaa gttaaagaag aagaagggag ccatggacga gctggagagg
      481 gctctcagct gcccggggca gcccagcaaa tgcgtcacga ttccccgctc cctggacggg
      541 cggctgcagg tgtcccaccg caagggcctg ccccatgtga tttactgtcg cgtgtggcgc
      601 tggccggatc tgcagtccca ccacgagctg aagccgctgg agtgctgtga gttcccattt
      661 ggctccaagc agaaagaagt gtgcattaac ccttaccact accgccgggt ggagactcca
      721 gtactgcctc ctgtgctcgt gccaagacac agtgaatata acccccagct cagcctcctg
      781 gccaagttcc gcagcgcctc cctgcacagt gagccactca tgccacacaa cgccacctat
      841 cctgactctt tccagcagcc tccgtgctct gcactccctc cctcacccag ccacgcgttc
      901 tcccagtccc cgtgcacggc cagctaccct cactccccag gaagtccttc tgagccagag
      961 agtccctatc aacactcagt tgacacacca cccctgcctt atcatgccac agaagcctct
     1021 gagacccaga gtggccaacc tgtagatgcc acagctgata gacatgtagt gctatcgata
     1081 ccaaatggag actttcgacc agtttgttac gaggagcccc agcactggtg ctcggtcgcc
     1141 tactatgaac tgaacaaccg agttggggag acattccagg cttcctcccg aagtgtgctc
     1201 atagatgggt tcaccgaccc ttcaaataac aggaacagat tctgtcttgg acttctttct
     1261 aatgtaaaca gaaactcaac gatagaaaat accaggagac atataggaaa gggtgtgcac
     1321 ttgtactacg tcgggggaga ggtgtatgcc gagtgcgtga gtgacagcag catctttgtg
     1381 cagagccgga actgcaacta tcaacacggc ttccacccag ctaccgtctg caagatcccc
     1441 agcggctgca gcctcaaggt cttcaacaac cagctcttcg ctcagctcct ggcccagtca
     1501 gttcaccacg gctttgaagt cgtgtatgaa ctgaccaaga tgtgtactat ccggatgagt
     1561 tttgttaagg gttggggtgc tgagtatcat cgccaggatg tcaccagcac cccctgctgg
     1621 attgagattc atcttcatgg gccactgcag tggctggaca aagttctgac tcagatgggc
     1681 tctccacata accccatttc ttcagtgtct taacagtcat gtcttaagct gcatttccat
     1741 aggatagagg ctattgcagg gagtggcttg tatcatttca gatttgcaac tgaagtttct
     1801 aaaaacatgt gtaaatacat agaatgtata ctgttcttat tttttttaat caccgtttgt
     1861 tttgtgcttt ctagttaacc tgatgccagt acagtgcaat tggaaaagca ggactttggt
     1921 gcctgtgcta taagcagcag attttgtggg aggaaacact tgagaggcga tattgtcaac
     1981 agtatttgaa gggtgttagc agaataaaag acagctttag tcagccgtgt cattataaag
     2041 catgttgtgt ggcctcacag aaacattgaa actgtttata cagcaaaagt caggtattag
     2101 cagcactaaa gcaaatatca ctcagatgaa acaaagcagt gaaaccccta cagtttaaat
     2161 gatgtcactt ttagtgctgt tggcaagaaa aaaaaaacaa caaacttgta caatgaatta
     2221 atgagatagg ccatagaaac tttatttcta aggttgacat acctatagct gggctcctgt
     2281 gctcatattc agtggtacat tttaaacaaa ctgtgatcgg aaaagaaaaa aaactgtgaa
     2341 gccaaaagtc atgttccctc agtctaccac tgtaaaaaca gagtctaata tgggaaaata
     2401 aatatgaaaa tagcatgaaa tgctgtttcc cagattgcaa gataagacca gaacttggtc
     2461 caagagccag ccacccaggg agactcctgc tttccacaga ggagaccagg ttcctgtcgt
     2521 gctggttgtt cgtgtcaggc agtcctgcaa actttgagtc tgcgcagcgt gccagaatag
     2581 cttgtgtttc agtcctgtgt caagaagcag gtgaaaccaa aggttggaga aaagcatcac
     2641 acgtcgactt acactttctc atttcccacg ttccagtctc ctgggaaggg cactctttcg
     2701 ccacgttttc ctgcctcttg gcaaatatta actctttgca gatcactaaa gcaacagtaa
     2761 agactttgag aaaatctaga cacattattg gatcaatgag ttatttaacc tagtgtctag
     2821 tgattatcta acctggaaat aaattcccaa ggaaagtgat aataatttca taatcatctg
     2881 caatttctgg ggaacagtgg tactgaataa taagacatct tttaaaaata tacacaatat
     2941 taaaaacctg ttcttatttt actttagatg agggaggaaa atcccccaaa tttctaggta
     3001 ctttcatata tatacttgcc atgcactaaa cactgcattg cttggaaaaa tatttcacac
     3061 cctctttaaa aatgtacaat ttaagatggc agttatgctt gtaacagaca gcacttcagt
     3121 aatccaagaa gtttcttcat ttatacattt tatctcaact ctttctagca ttagtgcaca
     3181 tggtagtttt tctaattaaa ttgtattcaa ggtagaaatg atcatgtgag aaagatatat
     3241 gattgagcta ctactgtcac ctcttacagt tactagtgtt agctaataga aactttcata
     3301 tatacacata gaaaagaatt attacatttt acattgaaaa atgtaatata tggcccatgt
     3361 agtgtataga aaaatctgta gtttattggt tcatcaacta tgtattgtgc acctacctat
     3421 gggtgtcagg tacaatgtta ggtactgtag aatcaaatgt aaataagaga cagtcccagc
     3481 cctcagggag ccgagaacct aatagtgaat ctgtttgtac agacatcttc atgtttcaga
     3541 acttttaaaa caaaacaaaa taatgtaatc tatcatcttt tgcttgaaag aatgtgattg
     3601 atttcttatc tctgttttga aattatttcc ttactcttct gcaaagtcag gtaatggatt
     3661 ccttgtataa atgctacttt tcttccatgt ctcaaagttg ttttttttcc tcccctttct
     3721 tccctgtttt ccaataattc tccatgtccc cttttcttag aaaaggcatt aatatggtga
     3781 atcttgtatg ggaaccattc catgggagaa cttcaacaca gtttttgctc cagagatcaa
     3841 acatagcttt cgtgatctct ctaccagcta tctaacttat cctctggtaa tctttttttt
     3901 tttttttttt tttttgagat ggagtctcgc tgtgtcacca ggccagagtg cagtggcgtg
     3961 atcttggctc actgcaacct ctgcctcccg ggttcgagtg attctcctgc ctcagcctcc
     4021 caagtagttg ggactacagg ctaccacgcc cagctaattt ttatattttt agtagagacg
     4081 gggtttcacc atggtagcca gaatggtctc tatctcttga ccttgtgatc cgcccgcctc
     4141 agcctcccaa agtgctggga ttacaggcgt gagccactgc gcccggcttc ctctggtaat
     4201 cttacacctt tacagaatta atctaaactg gtggctcata aatgacatta aaaacaaaaa
     4261 aaaaatctgg atgcagtggc tcattcctat agtcccagca ctttgggagg ccaaggcggg
     4321 aggatcatct gagcccagga gtttggggct gtagtgaact atgatcatac aacttcattc
     4381 tagcctgggt gacaaagtga caccctgtct ctaaacaaaa atcaagaaac aaaaaacttg
     4441 tatttccctg cagctttggg aagccagaac acaatattgc agtgaatctg aattttctgt
     4501 gacaaataaa ttattaaatt ggcacatatg atcatcacca gtcatgtctc atcaaaagcc
     4561 tttattatga tgcttgtaca ttttgaagaa tttagaatta atgagaagtt aaccctttag
     4621 tcattgtaac acaatcatat tttaatcagc tttttctttt gctaccaaga gtttcaaaaa
     4681 ataaatgcag tatttgattt caggctgcta aatgggctca tttagcattc attccttgat
     4741 gtagacatta aaaaaaaaac tgaatagcat tctttccagg ataactaata aagcagacat
     4801 gctaagccta taaatacatc agcactgcag cacacgttta aggttgccac ggacaaggat
     4861 cacacaatag agaacactgt agtaacattt cggtctgctc acaagaccca gaacattgat
     4921 cagtttttgt tgttggttta ttatttttct gttaaaaaat tgtgaaaagt ttgttttagc
     4981 tagatgatat tttaatagct gcgagtgctt tggaactata aagatgtcac tacttaacac
     5041 atatacctta tgttttgttt tgttttgttt tacactcagt ataaatcagg agaagttagc
     5101 caaccatcta gcatttagaa tcctcttttt tattgtcttc taaggatatg gatgttccca
     5161 taacagcaac aaaacagcaa caaaaacatt tcataaatat cacttgatag actgtaagca
     5221 cctgcttaac tttgtgtccc aaatatttag tgtgtatata tatatatata tatacacaca
     5281 cacacacata tatattcaac aaataaagca aaatataaca tgcatttcac attttgtctt
     5341 tccctgttac gattttaata gcagaactgt atgacaagtt taggtgatcc tagcatatgt
     5401 taaattcaaa ttaatgtaaa acagattaac aacaacaaag aaactgtcta tttgagtgaa
     5461 gtcatgcttt ctattataat aacttggctt cggttatcca tcaaatgcac acttatactg
     5521 ttatctgatt gtttataata aagaatactg tacttata
//
