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SMAD1 Gene

protein-coding   GIFtS: 66
GCID: GC04P146402

SMAD Family Member 1

(Previous names: MAD, mothers against decapentaplegic homolog 1 (Drosophila),...)
(Previous symbol: MADH1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
SMAD Family Member 11 2 3     SMAD, Mothers Against DPP Homolog 1 (Drosophila)1
MADH11 2 3 5     JV412
BSP12 3 5     MAD, Mothers Against Decapentaplegic Homolog 12
MADR12 3 5     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
JV4-12 3     Smad13
MAD Homolog 12 3     hSMAD13
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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SMAD1 Gene:
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)

GeneCards Summary for SMAD1 Gene:
SMAD1 (SMAD family member 1) is a protein-coding gene. Diseases associated with SMAD1 include neuropathy, distal hereditary motor, type va, and charcot-marie-tooth neuropathy type 2d. GO annotations related to this gene include protein kinase binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is SMAD3.

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) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SMAD1 gene promoter:
         Nkx2-5   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSMAD1 promoter sequence
   Search Chromatin IP Primers for SMAD1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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
Selected 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

Explore proteomics data for SMAD1 at MOPED

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
  • Ubiquitination2 at Lys418
  • Modification sites at PhosphoSitePlus

  • See SMAD1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    SMAD1 Human Recombinant Protein Products:

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    OriGene Purified Proteins for SMAD1
    OriGene Protein Over-expression Lysate for SMAD1
    OriGene MassSpec for 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 Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SMAD1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SMAD1
    R&D Systems Antibodies for SMAD1
    Cell Signaling Technology (CST) Antibodies for SMAD1 
    OriGene Antibodies for SMAD1
    OriGene Custom Antibody Services for SMAD1
    Novus Biologicals SMAD1 Antibodies
    Abcam antibodies for SMAD1 (O15198, Q99717, Q15797)
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibodies for SMAD1
    LSBio Antibodies in human, mouse, rat for SMAD1

    SMAD1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for SMAD1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SMAD: SMADs

    Selected InterPro protein domains (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 domain: 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


    SMAD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): Selected molecular function terms (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 NAS10708949
    GO:0005515protein binding IPI11278251
    GO:0019901protein kinase binding IPI12874272
         
    SMAD1 for ontologies           About GeneDecksing


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

         15 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Smad1):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     endocrine/exocrine gland  growth/size/body  homeostasis/metabolism  mortality/aging  muscle 
     nervous system  normal  reproductive system  skeleton  tumorigenesis 

    SMAD1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for SMAD1: Smad1tm1Rjle Smad1tm1Rob Smad1tm2.1Rob

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SMAD1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SMAD1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SMAD1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SMAD1

    miRNA
    Products:
        
    miRTarBase miRNAs that target SMAD1:
    hsa-mir-30a-5p (MIRT006319), hsa-mir-155-5p (MIRT001500), hsa-mir-30c-5p (MIRT006321), hsa-mir-26a-5p (MIRT002340), hsa-mir-16-5p (MIRT031384), hsa-mir-30d-5p (MIRT006322), hsa-mir-30b-5p (MIRT006320)

    Block miRNA regulation of human, mouse, rat SMAD1 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidSMAD1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SMAD1
    Predesigned siRNA for gene silencing in human, mouse, rat SMAD1

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

    Clone
    Products:
         
    OriGene clones in human, mouse for SMAD1 (see all 11)
    OriGene ORF clones in mouse, rat for SMAD1
    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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    GenScript Custom overexpressing Cell Line Services for SMAD1
    Browse ESI BIO Cell Lines and PureStem Progenitors for SMAD1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SMAD1_HUMAN, Q15797: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 11):    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


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SMAD1 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Signaling by BMP
    Signaling by BMP0.35
    BMP receptor signaling0.31
    BMP signalling and regulation0.35
    2Signaling by GPCR
    Signal Transduction0.58
    3Th17 Differentiation
    Th17 Differentiation0.47
    4Notch signaling pathway (KEGG)
    Delta-Notch Signaling Pathway0.33
    5Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SMAD1 (see all 8)
        BMP Pathway
    Cardiomyocyte Differentiation through BMP Receptors
    Factors Promoting Cardiogenesis in Vertebrates
    Molecular Mechanisms of Cancer
    JAK-STAT Pathway

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

    Selected BioSystems Pathways for SMAD1 (see all 12)
        Angiogenesis
    Heart Development
    TGF Beta Signaling Pathway
    BMP signalling and regulation
    Integrated Breast Cancer Pathway


    1 Reactome Pathway for SMAD1
        Signaling by BMP


    3 Kegg Pathways  (Kegg details for SMAD1):
        TGF-beta signaling pathway
    Hippo signaling pathway
    Transcriptional misregulation in cancer


    SMAD1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for SMAD1

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

    Selected Interacting proteins for SMAD1 (Q157971, 2, 3 ENSP000003057694) via UniProtKB, MINT, STRING, and/or I2D (see all 296)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102751, 2, 3, ENSP000003638224EBI-1567153,EBI-608057 MINT-4298190 MINT-4298130 MINT-4298098 MINT-4298114 MINT-4298145 MINT-4298170 I2D: score=2 STRING: ENSP00000363822
    UCHL3P153741, 2, 3, ENSP000003668194EBI-1567153,EBI-954554 MINT-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): Selected biological process terms (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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SMAD1

    6 Novoseek inferred 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)



    SMAD1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
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    Selected qRT-PCR 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 plasmidSMAD1 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): SMAD1 (NM_005900)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SMAD1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SMAD1
    Primer
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    OriGene qPCR primer pairs and template standards for SMAD1
    OriGene qSTAR qPCR primer pairs in human, mouse for SMAD1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SMAD1
      QuantiTect SYBR Green Assays in human, mouse, rat SMAD1
      QuantiFast Probe-based Assays in human, mouse, rat SMAD1

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 237):

    AA807761 AA282524 BM876165 AI127123 BQ271914 AI565455 BQ271605 BX492848 
    CR611301 BM683193 BI793223 Z39684 AA075298 BU729609 BE502456 AL036923 
    BC001878 AW242485 CD172408 U57456 AA159514 AW262996 CA418098 NM_005900 

    GeneLoc Exon Structure

    Selected 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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SMAD1 expression in normal human tissues (normalized intensities)      SMAD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCAATACC
    SMAD1 Expression
    About this image


    SMAD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 12 entries
             Articular Cartilage Cells Zeugopod Articular Cartilage
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
     
     Blood (Cardiovascular System)    fully expand to see all 4 entries
             Hemangioblasts Posterior Primitive Streak
             Peripheral blood-derived hematopoietic stem cells
     
     Neurons
             Preganglionic Motor Neurons Preganglionic Column
     
     Spinal Cord (Nervous System)
             Preganglionic Motor Neurons Preganglionic Column
    SMAD1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SMAD1 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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

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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SMAD1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smad11 , 5 MAD homolog 1 (Drosophila)5
    SMAD family member 11
    88.96(n)1
    99.14(a)1
      8 (37.56 cM)5
    171251  NM_008539.31  NP_032565.21 
     793383955 
    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
    SMAD family member 1
    98(a)
    1 ↔ 1
    5(117791977-117840421)
    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 67.13(n)
    80.65(a)
      33529  NM_057669.3  NP_477017.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sma-26
    Protein SMA-2 (sma-2) mRNA, complete cds
    56(a)
    1 → many
    III(8749771-8757069) WBGene00004856


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

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

    SMAD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SMAD1 (see all 1489)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs729467091,2
    C--146401002(+) TTTATT/CGCATA 1 -- us2k14Minor allele frequency- C:0.27WA CSA EA 241
    rs729467101,2
    C--146401036(+) TTTAAG/AACTAC 1 -- us2k14Minor allele frequency- A:0.27WA CSA EA 242
    rs1884253271,2
    --146401172(+) ATGGTA/GAAACC 1 -- us2k10--------
    rs1808684591,2
    --146401179(+) AACCCC/TGTCTC 1 -- us2k10--------
    rs1117485791,2
    C--146401187(+) TCTACTAAAAACA
    CAAAAA
    /-
    TTAGA
    1 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs1175990541,2
    C,F--146401332(+) ACTCCG/ATCTCA 1 -- us2k11Minor allele frequency- A:0.06EA 120
    rs1874219391,2
    --146401349(+) AATAAA/GTGCCA 1 -- us2k10--------
    rs1407722291,2
    --146401360(+) TTTTTG/TATTTT 1 -- us2k10--------
    rs760107891,2
    C,F--146401377(+) AATTAA/GCGACT 1 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1178568601,2
    C,F--146401770(+) ATGTAG/ACATGC 1 -- us2k11Minor allele frequency- A:0.03EA 120

    HapMap Linkage Disequilibrium report for SMAD1 (146402346 - 146480328 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SMAD1 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728492CNV Deletion23290073
    esv1540098CNV Deletion17803354
    dgv981e199CNV Deletion23128226
    esv2662386CNV Deletion23128226
    esv1000240CNV Deletion20482838
    esv2728491CNV Deletion23290073
    nsv513171CNV Loss21212237
    nsv822763CNV Loss20364138
    nsv511241CNV Loss21212237
    esv28792CNV Loss19812545

    Human Gene Mutation Database (HGMD): SMAD1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SMAD1
    DNA2.0 Custom Variant and Variant Library Synthesis for SMAD1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601595    OMIM disorders: --

    UniProtKB/Swiss-Prot: SMAD1_HUMAN, Q15797
  • Note=SMAD1 variants may be associated with susceptibility to pulmonary hypertension, a 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 pulmonary
    hypertension is rare, cases secondary to known etiologies are more common and include those associated with the
    appetite-suppressant drugs

  • Selected diseases for SMAD1 (see all 51):    About MalaCards
    neuropathy, distal hereditary motor, type va    charcot-marie-tooth neuropathy type 2d    gars-associated axonal neuropathy    distal spinal muscular atrophy, type v
    charcot-marie-tooth disease type 2d    buschke ollendorff syndrome    melorheostosis    osteopoikilosis
    fibrodysplasia ossificans progressiva    cleidocranial dysplasia    hereditary hemorrhagic telangiectasia    primary pulmonary hypertension
    charcot-marie-tooth neuropathy type 2    hypertrophic scars    axonal neuropathy    hemochromatosis
    follicular lymphoma    multiple endocrine neoplasia    spinal muscular atrophy    type 1 diabetes mellitus


    SMAD1 for disorders           About GeneDecksing

    6 Novoseek inferred 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)

    Genetic Association Database (GAD): SMAD1
    Human Genome Epidemiology (HuGE) Navigator: SMAD1 (16 documents)

    Export disorders for SMAD1 gene to outside databases

    (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)
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    PubMed articles for SMAD1 gene, integrated from 10 sources (see all 335):
    (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.V. (Nat. Genet. 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. (Cell 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. (Genes Dev. 1997)
    4. A human Mad protein acting as a BMP-regulated transcriptional activator. (PubMed id 8637600)1, 2, 9 Liu F....Massague J. (Nature 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. (J. Biol. Chem. 1996)
    6. A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension. (PubMed id 19211612)1, 4, 9 Shintani M....Matsuoka R. (J. Med. Genet. 2009)
    7. Fussel-15, a novel Ski/Sno homolog protein, antagonizes BMP signaling. (PubMed id 17292623)1, 2, 9 Arndt S.... Bosserhoff A.-K. (Mol. Cell. Neurosci. 2007)
    8. Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. (PubMed id 17847004)1, 4, 9 Milet J....Mosser J. (Am. J. Hum. Genet. 2007)
    9. USP15 is a deubiquitylating enzyme for receptor-activated SMADs. (PubMed id 21947082)1, 2 Inui M.... Piccolo S. (Nat. Cell Biol. 2011)
    10. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (Carcinogenesis 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
    About This Section

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      --

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

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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



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