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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SMAD1 Gene

protein-coding   GIFtS: 66
GCID: GC04P146402

SMAD family member 1

(Previous names: MAD, mothers against decapentaplegic homolog 1 (Drosophila),...)
(Previous symbol: MADH1)
 Explore 33 diseases affiliated with
SMAD1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SMAD1    

Aliases
for SMAD1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
SMAD Family Member 11 2 3     SMAD, Mothers Against DPP Homolog 1 (Drosophila)1
MADH11 2 3 5     JV412
MADR11 2 3 5     MAD, Mothers Against Decapentaplegic Homolog 12
JV4-11 2 3     Mothers Against Decapentaplegic Homolog 12
Mothers Against DPP Homolog 12 3     SMAD, Mothers Against DPP Homolog 12
Transforming Growth Factor-Beta-Signaling Protein 12 3     TGF-Beta Signaling Protein 12
BSP-12 3     Transforming Growth Factor-Beta Signaling Protein 12
BSP12 3     Smad13
MAD Homolog 12 3     HSMAD11
Mad-Related Protein 12 3     SMAD 13
MAD, Mothers Against Decapentaplegic Homolog 1 (Drosophila)1     

External Ids:    HGNC: 67671   Entrez Gene: 40862   Ensembl: ENSG000001703657   OMIM: 6015955   UniProtKB: Q157973   

Export aliases for SMAD1 gene to outside databases

Previous GC identifers: GC07U990134 GC04P146981 GC04P146760 GC04P146622 GC04P142134


Summaries
for SMAD1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SMAD1:
The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the
Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal
transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals
of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell
growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be
phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with
SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific
E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation.
Alternatively spliced transcript variants encoding the same protein have been observed. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: SMAD1_HUMAN, Q15797
Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a
receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor
SNIP1

Gene Wiki entry for SMAD1 (Mothers against decapentaplegic homolog 1)


Genomic Views
for SMAD1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.1  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMAD1 gene promoter:
         Nkx2-5   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SMAD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMAD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMAD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q31   Ensembl cytogenetic band:  4q31.21   HGNC cytogenetic band: 4q31.21

SMAD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMAD1 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P146402:  view genomic region     (about GC identifiers)

Start:
 146,402,346 bp from pter      End:
 146,480,328 bp from pter
Size:
 77,983 bases      Orientation:
 plus strand

Proteins
for SMAD1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: SMAD1_HUMAN, Q15797 (See protein sequence)
Recommended Name: Mothers against decapentaplegic homolog 1  
Size: 465 amino acids; 52260 Da
Subunit: Interacts with HGS, NANOG and ZCCHC12 (By similarity). May form trimers with another SMAD1 and the co-SMAD
SMAD4. Interacts with PEBP2-alpha subunit, CREB-binding protein (CBP), p300, SMURF1, SMURF2, USP15 and HOXC8.
Associates with ZNF423 or ZNF521 in response to BMP2 leading to activate transcription of BMP target genes. Interacts
with SKOR1. Interacts (via MH2 domain) with LEMD3. Binding to LEMD3 results in at least a partial reduction of
receptor-mediated phosphorylation. Forms a ternary complex with PSMB4 and OAZ1 before PSMB4 is incorporated into the
20S proteasome
Subcellular location: Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when
complexed with SMAD4. Co-localizes with LEMD3 at the nucleus inner membrane
6/7 PDB 3D structures from and Proteopedia for SMAD1 (see all 7):
1KHU (3D)        2LAW (3D)        2LAX (3D)        2LAY (3D)        2LAZ (3D)        2LB0 (3D)    
Secondary accessions: A8KAJ0 D3DNZ9 Q16636

Explore the universe of human proteins at neXtProt for SMAD1: NX_Q15797

Post-translational modifications:

  • Phosphorylated on serine by BMP type 1 receptor kinase1
  • Ubiquitinated by SMAD-specific E3 ubiquitin ligase SMURF1, leading to its degradation. Monoubiquitinated, leading to
    • prevent DNA-binding. Deubiquitination by USP15 alleviates inhibition and promotes activation of TGF-beta target genes1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15797

    • SMAD1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001003688.1  NP_005891.1  

    ENSEMBL proteins: 
     ENSP00000424959   ENSP00000424649   ENSP00000425270   ENSP00000305769   ENSP00000427002  
     ENSP00000422706   ENSP00000421601   ENSP00000377652   ENSP00000426568  
    Reactome Protein details: Q15797
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: SMAD1
    OriGene Protein Over-expression Lysate (see all 2): SMAD1
    OriGene Custom Protein Services for SMAD1 
    GenScript Custom Purified and Recombinant Proteins Services for SMAD1
    Novus Biologicals SMAD1 Proteins
    Novus Biologicals SMAD1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SMAD1

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS10647776
    GO:0005634nucleus TAS19018011
    GO:0005637nuclear inner membrane IDA15647271
    GO:0005654nucleoplasm TAS--
    GO:0005667transcription factor complex IEA--


    SMAD1 for ontologies           About GeneDecksing



    SMAD1 Antibody Products: 
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    Novus Biologicals SMAD1 Antibodies
    Abcam antibodies for SMAD1 
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    ThermoFisher Antibodies for SMAD1

    Assay Products for SMAD1: 
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    Uscn ELISAs and CLIAs for SMAD1

    Protein Domains /
    Families
    for SMAD1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SMAD1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR013019 MAD_homology_MH1
     IPR008984 SMAD_FHA_domain
     IPR001132 SMAD_dom_Dwarfin-type
     IPR017855 SMAD_dom-like
     IPR013790 Dwarfin

    Graphical View of Domain Structure for InterPro Entry Q15797

    ProtoNet protein and cluster: Q15797

    1 Blocks protein family: IPB001132 Dwarfin protein

    UniProtKB/Swiss-Prot: SMAD1_HUMAN, Q15797
    Similarity: Belongs to the dwarfin/SMAD family
    Similarity: Contains 1 MH1 (MAD homology 1) domain
    Similarity: Contains 1 MH2 (MAD homology 2) domain


    Function
    for SMAD1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: SMAD1_HUMAN, Q15797
    Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD1 is a
    receptor-regulated SMAD (R-SMAD). SMAD1/OAZ1/PSMB4 complex mediates the degradation of the CREBBP/EP300 repressor
    SNIP1

    miRNA
    Products:            		miRTarBase miRNAs that target SMAD1:
    hsa-mir-155 (MIRT001500), hsa-mir-26a (MIRT002340)

    OriGene 3'-UTR Clone (see all 2): SMAD1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMAD1
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate SMAD1 (see all 30):
    hsa-miR-548j hsa-miR-30c hsa-miR-345 hsa-miR-548i hsa-miR-3942-5p hsa-miR-3660 hsa-miR-30d hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmid: SMAD1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SMAD1 (see all 7)
    OriGene shRNA RFP: SMAD1
    OriGene siRNA: SMAD1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SMAD1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SMAD1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SMAD1 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SMAD1 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): SMAD1 (NM_005900)
    Sino Biological Human cDNA Clone for SMAD1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAD1 

    Cell Line
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    Search LifeMap BioReagents cell lines for SMAD1

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD1

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000979RNA polymerase II core promoter sequence-specific DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IDA9389648
    GO:0005057receptor signaling protein activity NAS8653785
    GO:0005515protein binding IPI11278251
    GO:0019901protein kinase binding IPI12874272


    SMAD1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SMAD1:
     High actin ratio cells  Increased cell number in S 

    Animal Models:
         Mouse knock-outs for SMAD1: Smad1tm1Rjle Smad1tm1Rob Smad1tm2.1Rob
         15 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Smad1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  normal  reproductive system  skeleton  tumorigenesis 

    SMAD1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SMAD1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling
    		Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling1.00
    		ALK2 signaling events0.31
    		Ubiquitin-dependent degradation controls basal levels of R-Smad1/5/80.38
    2Signaling by BMP
    		Signaling by BMP1.00
    		BMP receptor signaling0.31
    		BMP signalling and regulation0.35
    3TGF-beta/Smad Signaling
    		TGF-beta/Smad Signaling1.00
    4Neural Crest Differentiation
    		Neural Crest Differentiation1.00
    5Integrated Breast Cancer Pathway
    		Integrated Breast Cancer Pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 R&D Systems Pathways for SMAD1
        Th17 Differentiation
    TGF-beta Signaling Pathways


    1 Cell Signaling Technology (CST) Pathway for SMAD1
        TGF-beta/Smad Signaling

    5/12 BioSystems Pathways for SMAD1 (see all 12) 
        Angiogenesis
    Neural Crest Differentiation
    BMP signalling and regulation
    TGF Beta Signaling Pathway
    Heart Development

    4        Reactome Pathways for SMAD1
        Ubiquitin-dependent degradation controls basal levels of R-Smad1/5/8
    Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling
    Signal Transduction
    Signaling by BMP


    1         Kegg Pathway  (Kegg details for SMAD1):
        TGF-beta signaling pathway


    SMAD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMAD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/270 Interacting proteins for SMAD1 (Q157971, 2, 3 ENSP000003057694) via UniProtKB, MINT, STRING, and/or I2D (see all 270)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102752, 3, ENSP000003638224MINT-4298190 MINT-4298130 MINT-4298098 MINT-4298114 MINT-4298145 MINT-4298170 I2D: score=2 STRING: ENSP00000363822
    UCHL3P153742, 3, ENSP000003668194MINT-8149667 MINT-8149655 I2D: score=3 STRING: ENSP00000366819
    ZEB2O603152, 3, ENSP000003025014MINT-61992 I2D: score=6 STRING: ENSP00000302501
    PSMB4P280702, 3, ENSP000002905414MINT-62015 I2D: score=5 STRING: ENSP00000290541
    CHMP3Q9Y3E72, 3, ENSP000002638564MINT-62005 I2D: score=3 STRING: ENSP00000263856
    About this table

    Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IEA--
    GO:0001657ureteric bud development IEA--
    GO:0001710mesodermal cell fate commitment IEA--
    GO:0001822kidney development IEA--
    GO:0002051osteoblast fate commitment IEA--


    SMAD1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SMAD1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SMAD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SMAD1
    6 Novoseek chemical compound relationships for SMAD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    threonine 56.6 8 16931515 (2), 9136927 (1), 11106403 (1), 11889196 (1) (see all 6)
    serine 46.6 11 16931515 (2), 9442019 (2), 9136927 (1), 9449668 (1) (see all 8)
    monocrotaline 36.5 1 17347486 (1)
    pd 98,059 19.7 1 10708950 (1)
    tyrosine 11.7 6 16925574 (1), 11782399 (1), 14701872 (1), 18668566 (1) (see all 5)
    ornithine 2.71 3 12957830 (1), 11571290 (1)

    Search CenterWatch for drugs/clinical trials and news about SMAD1 

    Transcripts
    for SMAD1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SMAD1 gene (2 alternative transcripts): 
    NM_001003688.1  NM_005900.2  

    Unigene Cluster for SMAD1:

    SMAD family member 1
    Hs.604588  [show with all ESTs]
    Unigene Representative Sequence: NM_005900
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000514778 ENST00000507594 ENST00000514831 ENST00000302085(uc003ikc.3 uc011cic.2)
    ENST00000512019 ENST00000503324 ENST00000515527 ENST00000507367 ENST00000394092
    ENST00000515385(uc003ikd.3 uc010iov.3) ENST00000514168 ENST00000506626
    ENST00000502342 ENST00000511125 ENST00000510948 ENST00000511255

    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): SMAD1
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SMAD1
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate SMAD1 (see all 30):
    hsa-miR-548j hsa-miR-30c hsa-miR-345 hsa-miR-548i hsa-miR-3942-5p hsa-miR-3660 hsa-miR-30d hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmid: SMAD1 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AK293055.1 BC001878.1 BC069711.1 BC069781.1 BC069804.1 BT007386.1 U54826.1 U57456.1 
    U59423.1 U59912.1 

    13 DOTS entries:

    DT.75129973  DT.100811204  DT.86853125  DT.92434025  DT.102842631  DT.215988  DT.86837398  DT.97782492 
    DT.100811205  DT.100704526  DT.92434017  DT.121241108  DT.95322764 

    24/237 AceView cDNA sequences (see all 237):

    NM_005900 BQ477382 BF434472 AA181801 CR611301 BM683193 AL117396 BF000647 
    CD172408 BE502456 AW262996 BC069781 AA159514 AA934746 BQ962660 CA418098 
    U57456 BM702682 BC001878 BM876165 BX363072 BX091882 AI371792 BE644607 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for SMAD1 (see all 12)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15
    SP1:                    -     -     -     -     -     -     -     -                                                           -     -           -               
    SP2:                                            -     -     -     -                                                           -     -           -               
    SP3:        -     -     -     -     -     -     -     -     -     -                                                                                             
    SP4:                    -     -     -     -     -           -     -                                                                                             
    SP5:                                                                                                                                            -               


    ECgene alternative splicing isoforms for SMAD1

    Expression
    for SMAD1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SMAD1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTCAATACC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SMAD1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/27 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 27) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Spinal CordPreganglionic ColumnPreganglionic Motor NeuronsMotor Neurons
    AdiposeBody Subcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeCranial Subcutaneous White AdiposePreadipocytesAdipose
    AdiposeCranial Subcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeFacial Subcutaneous White AdiposePreadipocytesAdipose
    AdiposeFacial Subcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeSubcutaneous White AdiposePreadipocytesAdipose
    AdiposeSubcutaneous White AdiposeSubcutaneous White PreadipocytesAdipose
    AdiposeVisceral White AdiposeVisceral White PreadipocytesAdipose
    BoneAutopod Growth PlateHypertrophic ChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Neural crest-like cells (Directed differentia...)

    See SMAD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMAD1

    SOURCE GeneReport for Unigene cluster: Hs.604588

    UniProtKB/Swiss-Prot: SMAD1_HUMAN, Q15797
    Tissue specificity: Ubiquitous. Highest expression seen in the heart and skeletal muscle

        SABiosciences Expression via Pathway-Focused PCR Arrays including SMAD1 (see all 6): 
              Osteogenesis in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              TGFB Signaling Targets in human mouse rat
              Stem Cell Signaling in human mouse rat
              Transcription Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for SMAD1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for SMAD1 gene from 6/22 species (see all 22)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SMAD11 SMAD family member 1 83.73(n)
    97.2(a)    		   395680  NM_001201455.1  NP_001188384.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SMAD16
    		 --
    		 98(a)
    		 1 ↔ 1
    		 5(117793142-117818354)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.872 Xenopus laevis Mad1 mRNA, complete cds 82.53(n)    U77639.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii smad11 MAD homolog 1 (Drosophila) 76.36(n)
    89.87(a)    		   30628  NM_131356.1  NP_571431.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Mad1 Mothers against dpp 66.98(n)
    80.56(a)    		   33529  NM_057669.2  NP_477017.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea sma-26
    sma-36
    		 Dwarfin sma-3
    		 55(a)
    46(a)
    		 many ↔ many
    many ↔ many
    		 III(8749691-8756988)
    III(6860909-6863915)


    ENSEMBL Gene Tree for SMAD1 (if available)
    TreeFam Gene Tree for SMAD1 (if available) 

    Paralogs
    for SMAD1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMAD1 gene
    SMAD22  SMAD32  SMAD52  SMAD62  SMAD92  SMAD42  SMAD72  
    9 SIMAP similar genes for SMAD1 using alignment to 6 protein entries:     SMAD1_HUMAN (see all proteins):
    DKFZp586M0622    SMAD5    DKFZp781O1323    MADH5    SMAD9    SMAD3
    SMAD4    SMAD2    SMAD7

    SMAD1 for paralogs           About GeneDecksing



    Genomic Variants
    for SMAD1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SMAD1
         2 CNVs: 23705 63975
    Human Gene Mutation Database (HGMD): SMAD1
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SMAD1
    DNA2.0 Custom Variant and Variant Library Synthesis for SMAD1

    Disorders / Diseases
    for SMAD1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SMAD1 for disorders           About GeneDecksing

    OMIM gene information: 601595    OMIM disorders: --

    UniProtKB/Swiss-Prot: SMAD1_HUMAN, Q15797
  • Defects in SMAD1 may be a cause of primary pulmonary hypertension (PPH1) [MIM:178600]. A rare disorder
    • characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to
    elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy
    throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare,
    cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs

    20/33 diseases for SMAD1 (see all 33):    About MalaCards
    buschke-ollendorff syndrome    fibrodysplasia ossificans progressiva    b-cell non-hodgkin lymphoma    non-hodgkin lymphoma
    hereditary hemorrhagic telangiectasia    type 1 diabetes mellitus    multiple endocrine neoplasia    cleidocranial dysplasia
    hodgkin's lymphoma    melorheostosis    osteopoikilosis    primary pulmonary hypertension
    diabetes mellitus    pulmonary hypertension    follicular lymphoma    hemochromatosis
    glomerulosclerosis    pancreatic cancer    hypertension    nephropathy

    6 Novoseek disease relationships for SMAD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma embryonal 20.4 1 16373339 (1)
    lymphoma follicular 15.4 1 15470494 (1)
    pancreatic cancer 14 3 8637600 (1), 19056927 (1)
    breast cancer 0 5 9788633 (2), 11786386 (2)
    tumors 0 1 17183365 (1)
    lymphoma 0 6 15470494 (1)

    Human Genome Epidemiology (HuGE) Navigator: SMAD1 (16 documents)

    Export disorders for SMAD1 gene to outside databases

    Publications
    for SMAD1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SMAD1 gene, integrated from 9 sources (see all 323):
    (articles sorted by number of sources associating them with SMAD1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mad-related genes in the human. (PubMed id 8673135)1, 2, 3 Riggins G.J....Vogelstein B. (1996)
    2. MADR1, a MAD-related protein that functions in BMP2 signaling pathways. (PubMed id 8653785)1, 2, 3 Hoodless P.A.... Wrana J.L. (1996)
    3. The TGF-beta family mediator Smad1 is phosphorylated directly and activated functionally by the BMP receptor kinase. (PubMed id 9136927)1, 2, 9 Kretzschmar M.... Massague J. (1997)
    4. A human Mad protein acting as a BMP-regulated transcriptional activator. (PubMed id 8637600)1, 2, 9 Liu F....Massague J. (1996)
    5. Serine phosphorylation, chromosomal localization, and transforming growth factor-beta signal transduction by human bsp-1. (PubMed id 8663601)1, 2, 9 Lechleider R.J....Roberts A.B. (1996)
    6. Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling. (PubMed id 17292623)1, 2, 9 Arndt S.... Bosserhoff A.-K. (2007)
    7. USP15 is a deubiquitylating enzyme for receptor-activ ated SMADs. (PubMed id 21947082)1, 2 Inui M....Piccolo S. (2011)
    8. The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. (PubMed id 15647271)1, 2 Pan D.... Luo K. (2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. Early hematopoietic zinc finger protein (EHZF), the human homolog to mouse Evi3, is highly expressed in primitive human hematopoietic cells. (PubMed id 14630787)1, 2 Bond H.M....Venuta S. (2004)

    External Searches for SMAD1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SMAD1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4086 HGNC: 6767 AceView: SMAD1 Ensembl:ENSG00000170365 euGenes: HUgn4086
    ECgene: SMAD1 Kegg: 4086 H-InvDB: SMAD1

    Other Databases showing SMAD1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SMAD1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SMAD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SMAD1 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for SMAD1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SMAD1 gene:
    Search GeneIP for patents involving SMAD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for SMAD1 gene

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    About This Section

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