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    SMAD9 SMAD family member 9 [ Homo sapiens ]

    Gene ID: 4093, updated on 11-May-2012

    Summary

    Official Symbol
    SMAD9provided by HGNC
    Official Full Name
    SMAD family member 9provided by HGNC
    Primary source
    HGNC:6774
    Locus tag
    RP11-421P11.9
    See related
    Ensembl:ENSG00000120693; MIM:603295; Vega:OTTHUMG00000016740
    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
    MADH6; MADH9; SMAD8; SMAD8A; SMAD8B
    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]

    Genomic context

    Location :
    13q12-q14
    Sequence :
    Chromosome: 13; NC_000013.10 (37418968..37494409, complement)
    See SMAD9 in Epigenomics, MapViewer

    Chromosome 13 - NC_000013.10Genomic Context describing neighboring genes Neighboring gene ADP-ribosylation factor-like 2 binding protein pseudogene 3 Neighboring gene regulatory factor X-associated protein Neighboring gene late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 pseudogene 1 Neighboring gene ribosomal protein L29 pseudogene 28

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    O15198 Q969K4 ABTB1    HPRD  PubMed  
    O15198 P60709 ACTB    HPRD  PubMed  
    O15198 Q04771 ACVR1    HPRD  PubMed  
    O15198 P51825 AFF1    HPRD  PubMed  
    O15198 O95782 AP2A1    HPRD  PubMed  
    O15198 Q9BRR9 ARHGAP9    HPRD  PubMed  
    O15198 Q8NFD5 ARID1B    HPRD  PubMed  
    O15198 P27540 ARNT    HPRD  PubMed  
    O15198 Q96Q27 ASB2    HPRD  PubMed  
    O15198 Q9UBL3 ASH2L    HPRD  PubMed  
    O15198 Q9NRL2 BAZ1A    HPRD  PubMed  
    O15198 P78543 BTG2    HPRD  PubMed  
    O15198 Q96RR1 C10orf2    HPRD  PubMed  
    O15198 Q66GS9 CEP135    HPRD  PubMed  
    O15198 Chondroitin polymerizing factor CHPF    HPRD  PubMed  
    O15198 Q9H078 CLPB    HPRD  PubMed  
    O15198 Q8N436 CPXM2    HPRD  PubMed  
    O15198 Chorionic somatomammotropin hormone 1 CSH1    HPRD  PubMed  
    O15198 Q6PD62 CTR9    HPRD  PubMed  
    O15198 CXXC finger 5 CXXC5    HPRD  PubMed  
    O15198 P05108 CYP11A1    HPRD  PubMed  
    O15198 Q9NSV4 DIAPH3    HPRD  PubMed  
    O15198 O94907 DKK1    HPRD  PubMed  
    O15198 Q96EY1 DNAJA3    HPRD  PubMed  
    O15198 Q99615 DNAJC7    HPRD  PubMed  
    O15198 O94833 DST    HPRD  PubMed  
    O15198 P60981 DSTN    HPRD  PubMed  
    O15198 E4F transcription factor 1 E4F1    HPRD  PubMed  
    O15198 Q99613 EIF3C    HPRD  PubMed  
    O15198 P60228 EIF3E    HPRD  PubMed  
    O15198 O00303 EIF3F    HPRD  PubMed  
    O15198 FLJ32214 protein ERVV-1    HPRD  PubMed  
    O15198 Q86UK5 EVC2    HPRD  PubMed  
    O15198 Q8NEV8 EXPH5    HPRD  PubMed  
    O15198 Q01543 FLI1    HPRD  PubMed  
    O15198 P02751 FN1    HPRD  PubMed  
    O15198 P02792 FTL    HPRD  PubMed  
    O15198 P28799 GRN    HPRD  PubMed  
    O15198 Q9Y5J3 HEY1    HPRD  PubMed  
    O15198 Hairy/enhancer-of-split related with YRPW motif-like HEYL    HPRD  PubMed  
    O15198 Q7Z6Z7 HUWE1    HPRD  PubMed  
    O15198 O15550 KDM6A    HPRD  PubMed  
    O15198 Q92622 KIAA0226    HPRD  PubMed  
    O15198 Q9Y2U8 LEMD3    HPRD  PubMed  
    O15198 P61968 LMO4    HPRD  PubMed  
    O15198 Q9UIQ6 LNPEP    HPRD  PubMed  
    O15198 O75197 LRP5    HPRD  PubMed  
    O15198 O60476 MAN1A2    HPRD  PubMed  
    O15198 Q9NR34 MAN1C1    HPRD  PubMed  
    O15198 O00754 MAN2B1    HPRD  PubMed  
    O15198 Q9UIS9 MBD1    HPRD  PubMed  
    O15198 O60318 MCM3AP    HPRD  PubMed  
    O15198 P26572 MGAT1    HPRD  PubMed  
    O15198 O14686 MLL2    HPRD  PubMed  
    O15198 Q9NXD2 MTMR10    HPRD  PubMed  
    O15198 Cisplatin resistance associated MTMR11    HPRD  PubMed  
    O15198 Q9UJ70 NAGK    HPRD  PubMed  
    O15198 Q96FW1 OTUB1    HPRD  PubMed  
    O15198 Q13310 PABPC4    HPRD  PubMed  
    O15198 Q13219 PAPPA    HPRD  PubMed  
    O15198 Q8IZL8 PELP1    HPRD  PubMed  
    O15198 P46019 PHKA2    HPRD  PubMed  
    O15198 O00625 PIR    HPRD  PubMed  
    O15198 Q99959 PKP2    HPRD  PubMed  
    O15198 Q15149 PLEC    HPRD  PubMed  
    O15198 Patatin like phospholipase domain containing 2 PNPLA2    HPRD  PubMed  
    O15198 Q03181 PPARD    HPRD  PubMed  
    O15198 Q16537 PPP2R5E    HPRD  PubMed  
    O15198 P07602 PSAP    HPRD  PubMed  
    O15198 P48556 PSMD8    HPRD  PubMed  
    O15198 P47897 QARS    HPRD  PubMed  
    O15198 Q96S59 RANBP9    HPRD  PubMed  
    O15198 P22670 RFX1    HPRD  PubMed  
    O15198 Q9H871 RMND5A    HPRD  PubMed  
    O15198 Q5XPI4 RNF123    HPRD  PubMed  
    O15198 Q9P2E9 RRBP1    HPRD  PubMed  
    O15198 Q96T21 SECISBP2    HPRD  PubMed  
    O15198 O75533 SF3B1    HPRD  PubMed  
    O15198 Q9H173 SIL1    HPRD  PubMed  
    O15198 Q15796 SMAD2    HPRD  PubMed  
    O15198 P84022 SMAD3    HPRD  PubMed  
    O15198 Q13485 SMAD4    HPRD  PubMed  
    O15198 PI3 kinase related kinase SMG1 SMG1    HPRD  PubMed  
    O15198 P08621 SNRNP70    HPRD  PubMed  
    O15198 Q01082 SPTBN1    HPRD  PubMed  
    O15198 Q8WVM7 STAG1    HPRD  PubMed  
    O15198 Chromosome 9 open reading frame 13 SVEP1    HPRD  PubMed  
    O15198 Q9BTW9 TBCD    HPRD  PubMed  
    O15198 P54274 TERF1    HPRD  PubMed  
    O15198 Q9GZM7 TINAGL1    HPRD  PubMed  
    O15198 Q8N5G2 TMEM57    HPRD  PubMed  
    O15198 P50616 TOB1    HPRD  PubMed  
    O15198 Q14134 TRIM29    HPRD  PubMed  
    O15198 Q14669 TRIP12    HPRD  PubMed  
    O15198 Q6PGP7 TTC37    HPRD  PubMed  
    O15198 Q05086 UBE3A    HPRD  PubMed  
    O15198 Q9UMX0 UBQLN1    HPRD  PubMed  
    O15198 Q9NRR5 UBQLN4    HPRD  PubMed  
    O15198 Q9H3U1 UNC45A    HPRD  PubMed  
    O15198 Q8N3P4 VPS8    HPRD  PubMed  
    O15198 Q9HCS7 XAB2    HPRD  PubMed  
    O15198 P27348 YWHAQ    HPRD  PubMed  
    O15198 O60315 ZEB2    HPRD  PubMed  
    O15198 Q5JVG2 ZNF484    HPRD  PubMed  
    O15198 Q8N988 ZNF557    HPRD  PubMed  
    O15198 Q96SQ5 ZNF587    HPRD  PubMed  
    O15198 Q92610 ZNF592    HPRD  PubMed  
    O15198 P51522 ZNF83    HPRD  PubMed  
    O15198 Q8NAM6 ZSCAN4    HPRD  PubMed  
    BioGRID:110268 BioGRID:113763 HMGA2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110268 BioGRID:108918 KAT2A    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110268 BioGRID:114375 KAT2B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110268 BioGRID:110264 SMAD4    BioGRID  PubMed Affinity Capture-Western; Two-hybrid 
    BioGRID:110268 BioGRID:110268 SMAD9    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110268 BioGRID:115443 TOB1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:110268 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK1 signaling events, organism-specific biosystem
      ALK1 signaling events
    • ALK2 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK2 signaling events, organism-specific biosystem
      ALK2 signaling events
    • BMP receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      BMP receptor signaling, organism-specific biosystem
      BMP receptor signaling
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by BMP, organism-specific biosystem (from REACTOME)
      Signaling by BMP, organism-specific biosystemThe TGF-beta/BMP (bone morphogenetic protein) pathway incorporates several signalling pathways that share most, but not all, components of a central signal transduction engine. The general signalling...
    • TGF Beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF Beta Signaling Pathway, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    BMP signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    Mullerian duct regression IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
     
    hindbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    midbrain development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription factor complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    mothers against decapentaplegic homolog 9
    Names
    mothers against decapentaplegic homolog 9
    MAD homolog 9
    SMAD, mothers against DPP homolog 9
    Mothers against decapentaplegic, drosophila, homolog of, 9

    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_016963.1 RefSeqGene

      Range
      5001..80442
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127217.2NP_001120689.1  mothers against decapentaplegic homolog 9 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AL138706, BC011559, CN291481, D83760
      Consensus CDS
      CCDS45032.1
      UniProtKB/Swiss-Prot
      O15198
      Related
      ENSP00000369154, ENST00000379826
      Conserved Domains (2) summary
      cd10490
      Location:13136
      Blast Score: 678
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cl00056
      Location:267467
      Blast Score: 1104
      MH2; C-terminal Mad Homology 2 (MH2) domain
    2. NM_005905.5NP_005896.1  mothers against decapentaplegic homolog 9 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) lacks an alternate in-frame exon, compared to variant a, resulting in a shorter protein (isoform b), compared to isoform a.
      Source sequence(s)
      AL138706, BC011559, CN291481
      Consensus CDS
      CCDS9360.1
      UniProtKB/Swiss-Prot
      O15198
      Related
      ENSP00000239885, OTTHUMP00000178565, ENST00000350148, OTTHUMT00000044526
      Conserved Domains (2) summary
      cd10490
      Location:13136
      Blast Score: 675
      MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)
      cl00056
      Location:230430
      Blast Score: 1100
      MH2; C-terminal Mad Homology 2 (MH2) domain

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000013.10 Reference GRCh37.p5 Primary Assembly

      Range
      37418968..37494409, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000145.1 Alternate HuRef

      Range
      18230428..18265347, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL138706.9 CAI14007.1
      CAM19158.1
    genomic CH471075.1 EAX08570.1
      EAX08571.1
      EAX08572.1
      EAX08573.1
    mRNA AK311686.1 None
    mRNA AK314920.1 None
    mRNA AW191604.1 None
    mRNA BC011559.1 AAH11559.1
    mRNA BC067766.1 None
    mRNA BC104760.1 AAI04761.1
    mRNA BC104762.1 AAI04763.1
    mRNA BC143240.1 AAI43241.1
    mRNA BC143256.1 None
    mRNA CN291481.1 None
    mRNA D83760.1 BAA21128.1
    mRNA D83761.1 BAA21129.1
    mRNA DB501041.1 None
    other-genetic EU446860.1 ABZ92389.1
    other-genetic EU831977.1 ACE87418.1
    other-genetic EU832070.1 ACE86732.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15198.1 GenPept UniProtKB/Swiss-Prot:O15198

      Supplemental Content

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