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

SMURF1 Gene

protein-coding   GIFtS: 64
GCID: GC07M098627

SMAD specific E3 ubiquitin protein ligase 1

 Explore 15 diseases affiliated with
SMURF1 via our new
 Human Malady Compendium 
Biological research products
for SMURF1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SMAD Specific E3 Ubiquitin Protein Ligase 11 2     E3 Ubiquitin Ligase SMURF12
KIAA16251 3     E3 Ubiquitin-Protein Ligase SMURF12
SMAD Ubiquitination Regulatory Factor 12 3     Smad-Specific E3 Ubiquitin Ligase 12
HSMURF11     EC 6.3.2.-3
SMAD-Specific E3 Ubiquitin-Protein Ligase 12 3     EC 6.3.28

External Ids:    HGNC: 168071   Entrez Gene: 571542   Ensembl: ENSG000001987427   OMIM: 6055685   UniProtKB: Q9HCE73   

Export aliases for SMURF1 gene to outside databases

Previous GC identifers: GC07M097159 GC07M098222 GC07M098236 GC07M098269 GC07M098463 GC07M093257


(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 SMURF1:
This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic
protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell
polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.(provided by
RefSeq, Dec 2010)

UniProtKB/Swiss-Prot: SMUF1_HUMAN, Q9HCE7
Function: E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates
ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes
ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA

Gene Wiki entry for SMURF1


(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_000007.13  NC_018918.1  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SMURF1 gene promoter:
         STAT1   AML1a   Pax-5   ATF-2   STAT1beta   Evi-1   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 5): SMURF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SMURF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMURF1


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q22.1   HGNC cytogenetic band: 7q21.1-q31.1

SMURF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMURF1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M098627:  view genomic region     (about GC identifiers)

Start:
98,625,061 bp from pter      End:
98,741,723 bp from pter
Size:
116,663 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 97,981,097-98,097,745     

(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: SMUF1_HUMAN, Q9HCE7 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase SMURF1  
Size: 757 amino acids; 86114 Da
Subunit: Interacts with TRAF4. Interacts (via HECT domain) with FBXL15 (via LRR repeats). Interacts with SMAD7 and
TGFBR1; SMAD7 recruits SMURF1 to TGFBR1 and regulates TGF-beta receptor degradation
Subcellular location: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side
Sequence caution: Sequence=BAB13451.1; Type=Erroneous initiation;
5 PDB 3D structures from and Proteopedia for SMURF1:
2LAZ (3D)        2LB0 (3D)        2LB1 (3D)        2LTX (3D)        3PYC (3D)    
Secondary accessions: A4D279 B7ZMB6 B9EGV3 O75853 Q547Q3 Q9UJT8
Alternative splicing: 2 isoforms:  Q9HCE7-1   Q9HCE7-2   

Explore the universe of human proteins at neXtProt for SMURF1: NX_Q9HCE7

Post-translational modifications:

  • Ubiquitinated by the SCF(FBXL15) complex at Lys-381 and Lys-383, leading to its degradation by the proteasome. Lys-383
  • is the primary ubiquitination site1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCE7

  • 4/23 DME Specific Peptides for SMURF1 (Q9HCE7) (see all 23)
     PLPPGWE  GFKALQG  LQINPDS  NPYYGLF 

    SMURF1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186776.1  NP_065162.1  NP_851994.1  

    ENSEMBL proteins: 
     ENSP00000355326   ENSP00000354621  
    Reactome Protein details: Q9HCE7
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    Uscn Proteins for SMURF1

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IBA--
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm IDA12151385
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane IDA12151385


    SMURF1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for SMURF1


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

    SMURF1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR024928 E3_ub_ligase_SMURF1
     IPR018029 C2_membr_targeting
     IPR001202 WW_Rsp5_WWP
     IPR000569 HECT

    Graphical View of Domain Structure for InterPro Entry Q9HCE7

    ProtoNet protein and cluster: Q9HCE7

    2 Blocks protein families:
    IPB000008 C2 domain
    IPB000569 HECT domain (Ubiquitin-protein ligase)


    UniProtKB/Swiss-Prot: SMUF1_HUMAN, Q9HCE7
    Domain: The C2 domain mediates membrane localization and substrate selection
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 2 WW domains


    (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: SMUF1_HUMAN, Q9HCE7
    Function: E3 ubiquitin-protein ligase that acts as a negative regulator of BMP signaling pathway. Mediates
    ubiquitination and degradation of SMAD1 and SMAD5, 2 receptor-regulated SMADs specific for the BMP pathway. Promotes
    ubiquitination and subsequent proteasomal degradation of TRAF family members and RHOA

    Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

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    8/117 QIAGEN miScript miRNA Assays for microRNAs that regulate SMURF1 (see all 117):
    hsa-miR-194* hsa-miR-411* hsa-miR-323-3p hsa-miR-140-5p hsa-miR-15a hsa-miR-106a hsa-miR-218-1* hsa-miR-4267
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    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA12151385
    GO:0005515protein binding IPI--
    GO:0048185activin binding IPI16720724
    GO:0070411I-SMAD binding IPI12151385
    GO:0070412R-SMAD binding IPI11278251


    SMURF1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for SMURF1:
     Increased cell death in HCT116  Increased cell number in G1, a 

    Animal Models:
         Mouse knock-outs for SMURF1: Smurf1tm1Wran Smurf1tm1Yez
         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Smurf1):
     embryogenesis  hearing/vestibular/ear  limbs/digits/tail  mortality/aging  nervous system 
     normal  skeleton 

    SMURF1 for phenotypes           About GeneDecksing


    (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 - 5/22 super-pathways (see all 22About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation1.00
    Polyubiquitination of substrate0.75
    Class I MHC mediated antigen processing & presentation0.83
    Ubiquitin mediated proteolysis0.36
    2Signaling by BMP
    Signaling by BMP1.00
    BMP receptor signaling0.31
    BMP signalling and regulation0.35
    3Development_TGF-beta receptor signaling
    Development_TGF-beta receptor signaling1.00
    Development TGF-beta receptor signaling0.96
    4Immune System
    Immune System1.00
    Adaptive Immune System0.59
    5TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
    TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)1.00
    Disassembly of tight junctions0.94

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for SMURF1
        Common schema of ubiquitination
    Signal transduction Activin A signaling regulation
    Development TGF-beta receptor signaling

    1 R&D Systems Pathway for SMURF1
        TGF-beta Signaling Pathways

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SMURF1
        SMAD Signaling Network
    Ubiquitin-Proteasome Dependent Proteolysis
    Epithelial Tight Junctions

    2 Cell Signaling Technology (CST) Pathways for SMURF1
        TGF-beta/Smad Signaling
    Protein Stability

    2 GeneGo (Thomson Reuters) Pathways for SMURF1
        Signal transduction Activin A signaling regulation
    Development TGF-beta receptor signaling

    5 BioSystems Pathways for SMURF1 
        BMP signalling and regulation
    TGF-beta Receptor Signaling Pathway
    TGF-beta receptor signaling
    BMP receptor signaling
    Signaling events mediated by HDAC Class I

    5/13        Reactome Pathways for SMURF1 (see all 13)
        TGF-beta receptor signaling activates SMADs
    Ubiquitin-dependent degradation controls basal levels of R-Smad1/5/8
    Polyubiquitination of substrate
    Adaptive Immune System
    Disassembly of tight junctions


    3         Kegg Pathways  (Kegg details for SMURF1):
        Ubiquitin mediated proteolysis
    Endocytosis
    TGF-beta signaling pathway

    UniProtKB/Swiss-Prot: SMUF1_HUMAN, Q9HCE7
    Pathway: Protein modification; protein ubiquitination


    SMURF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SMURF1

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

    5/174 Interacting proteins for SMURF1 (Q9HCE72, 3 ENSP000003546214) via UniProtKB, MINT, STRING, and/or I2D (see all 174)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615862, 3, ENSP000004001754MINT-56527 MINT-8187339 MINT-8187355 I2D: score=3 STRING: ENSP00000400175
    SMAD3P840222, 3, ENSP000003329734MINT-61699 I2D: score=5 STRING: ENSP00000332973
    SMAD2Q157962, 3, ENSP000002621604MINT-60919 I2D: score=3 STRING: ENSP00000262160
    SMAD5Q997172, 3MINT-61822 I2D: score=3 
    PSME3P612892, 3, ENSP000002933624MINT-7894494 MINT-7894481 MINT-7894523 MINT-7894558 MINT-7894543 I2D: score=2 STRING: ENSP00000293362
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA19937093
    GO:0006611protein export from nucleus IDA11278251
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--
    GO:0007398ectoderm development TAS10458166
    GO:0016567protein ubiquitination IDA11278251


    SMURF1 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for SMURF1

    4 HMDB Compounds for SMURF1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--
    Search CenterWatch for drugs/clinical trials and news about SMURF1 / SMUF1 

    (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 SMURF1 gene (3 alternative transcripts): 
    NM_001199847.1  NM_020429.2  NM_181349.2  

    Unigene Cluster for SMURF1:

    SMAD specific E3 ubiquitin protein ligase 1
    Hs.189329  [show with all ESTs]
    Unigene Representative Sequence: NM_020429
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361368 ENST00000361125(uc003upu.2 uc003upv.2 uc003upt.3)
    ENST00000480055 ENST00000472627

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    8/117 QIAGEN miScript miRNA Assays for microRNAs that regulate SMURF1 (see all 117):
    hsa-miR-194* hsa-miR-411* hsa-miR-323-3p hsa-miR-140-5p hsa-miR-15a hsa-miR-106a hsa-miR-218-1* hsa-miR-4267
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    Additional cDNA sequence: 

    AB046845.1 AF199364.2 AF464850.1 AK057024.1 AK126471.1 AL137424.1 AL833673.1 AL834242.1 
    AY007164.1 BC008574.1 BC136804.1 BC144414.1 BC152468.1 

    20 DOTS entries:

    DT.215004  DT.95376369  DT.95315267  DT.121118917  DT.95376368  DT.100024798  DT.100781112  DT.40230689 
    DT.95246758  DT.40130690  DT.86847075  DT.91750284  DT.92059059  DT.97791117  DT.121118766  DT.40130811 
    DT.70103168  DT.91680089  DT.91985165  DT.95254959 

    24/170 AceView cDNA sequences (see all 170):

    AL833673 R47213 AI740575 BQ684864 AF464850 CK819607 F03673 BM667855 
    F04432 AA587907 AW078809 AW006036 BU173732 BG289217 AW369262 CB130302 
    Z45577 AL044740 AA362022 BX096429 AI830495 BQ684421 BU185077 H81876 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SMURF1 (see all 8)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19
    SP1:        -                                                                                                                                       
    SP2:                                                                                                                                                
    SP3:                                                              -     -                                                                           
    SP4:                                                                                                                                                
    SP5:                                                                                                                                                


    ECgene alternative splicing isoforms for SMURF1

    (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

    SMURF1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

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

    About this image
    See SMURF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SMURF1

    SOURCE GeneReport for Unigene cluster: Hs.189329
        SABiosciences Expression via Pathway-Focused PCR Arrays including SMURF1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              Tight Junctions in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Mesenchymal Stem Cell in human mouse rat
              Ubiquitin Ligases 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SMURF1 gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SMURF11 SMAD specific E3 ubiquitin protein ligase 1 84(n)
    98.07(a)
      416487  XM_414794.3  XP_414794.2 
    lizard
    (Anolis carolinensis)
    Reptilia SMURF16
    --
    93(a)
    1 ↔ 1
    GL343725.1(106637-119703)
    African clawed frog
    (Xenopus laevis)
    Amphibia Smurf12 E3 ubiquitin ligase SMURF1 77.93(n)    AF169310.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb30b122 Danio rerio cDNA clone MGC66401 IMAGE5915182, complete more 77.63(n)    BC059201.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta lack3 TGFbeta receptor signaling pathway
    ubiquitin-protein more
    71(a)     --


    ENSEMBL Gene Tree for SMURF1 (if available)
    TreeFam Gene Tree for SMURF1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SMURF1 gene
    NEDD4L2  HECW22  HACE12  WWP22  KIAA03172  SMURF22  HECW12  ITCH2  
    NEDD42  WWP12  
    12 SIMAP similar genes for SMURF1 using alignment to 2 protein entries:     SMUF1_HUMAN (see all proteins):
    DKFZp564H223    SMURF2    HUWE1    HECW1    NEDL1    HECW2
    NEDD4    WWP2    DKFZp564G092    NEDD4L    ITCH    WWP1

    SMURF1 for paralogs           About GeneDecksing



    (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

    10/1965 NCBI SNPs in SMURF1 are shown (see all 1965    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1829365691,2
    --98624661(+) GTGGCA/GCAAGC 3 -- int10--------
    rs38371031,2
    C,--98624801(-) TTTTT-/TATTTT 3 -- int11Minor allele frequency- T:0.00CSA 2
    rs20109531,2
    C,F,A,H,--98624832(+) TAACCG/AGTGCG 3 -- int129Minor allele frequency- A:0.40NS EA NA WA CSA 2917
    rs10070071,2
    C,F,A,H,--98624877(+) TTTCCC/TGATAG 3 -- int129Minor allele frequency- T:0.13NA EA NS WA CSA 3111
    rs1172117991,2
    F,--98624980(+) TTCCTG/ACTGCC 3 -- int11Minor allele frequency- A:0.03EA 120
    rs1876366961,2
    --98625084(+) TTGCAC/TATGTA 3 -- ut310--------
    rs2009003071,2
    --98625206(+) TTTGA-/TTTTTG 3 -- ut310--------
    rs613264841,2
    C,--98625213(+) TTTGAC/AATAGA 3 -- ut312Minor allele frequency- A:0.03WA 120
    rs93731,2
    C--98625257(+) TGATAA/CAAACA 3 -- ut312Minor allele frequency- C:0.00MN NA 186
    rs1924046411,2
    --98625287(+) TAGCAA/GCAATA 3 -- ut310--------

    HapMap Linkage Disequilibrium report for SMURF1 (98625061 - 98741723 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for SMURF1
         2 CNVs: 100049 70008

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    (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

    SMURF1 for disorders           About GeneDecksing

    OMIM gene information: 605568    OMIM disorders: --

    15 diseases for SMURF1:    About MalaCards
    cerebral cavernous malformations-2    cerebral cavernous malformations    cavernous malformation    wolfram syndrome
    ulcerative colitis    wilms tumor    cerebritis    scleroderma
    pancreatic cancer    colorectal cancer    lung cancer    breast cancer
    pancreatitis    malaria    neuronitis

    2 Novoseek disease relationships for SMURF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 2 14657501 (1), 19458200 (1)
    cancer 0 5 18927080 (2)

    Human Genome Epidemiology (HuGE) Navigator: SMURF1 (1 document)

    Export disorders for SMURF1 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)
    About This Section

    PubMed articles for SMURF1 gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with SMURF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A SMAD ubiquitin ligase targets the BMP pathway and affects embryonic pattern formation. (PubMed id 10458166)1, 2, 3 Zhu H.... Thomsen G.H. (1999)
    2. Pivotal role of the C2 domain of the Smurf1 ubiquitin ligase in substrate selection. (PubMed id 21402695)1, 2 Lu K....He F. (2011)
    3. Ubiquitin ligase Smurf1 targets TRAF family proteins for ubiquitination and degradation. (PubMed id 19937093)1, 2 Li S....Zhang L. (2010)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    5. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    6. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (2000)
    7. Smurf2 induces ubiquitin-dependent degradation of Smurf1 to prevent migration of breast cancer cells. (PubMed id 18927080)1, 9 Fukunaga E....Imamura T. (2008)
    8. Chromosomal region maintenance 1 (CRM1)-dependent nuclear export of Smad ubiquitin regulatory factor 1 (Smurf1) is essential for negative regulation of transforming growth factor-beta signaling by Smad7. (PubMed id 12519765)1, 9 Tajima Y....Imamura T. (2003)
    9. Smad6 interacts with Runx2 and mediates Smad ubiquitin regulatory factor 1-induced Runx2 degradation. (PubMed id 16299379)1, 9 Shen R....Chen D. (2006)
    10. Smurf1 regulates the inhibitory activity of Smad7 by targeting Smad7 to the plasma membrane. (PubMed id 12151385)1, 9 Suzuki C....Miyazono K. (2002)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57154 HGNC: 16807 AceView: SMURF1 Ensembl:ENSG00000198742 euGenes: HUgn57154
    ECgene: SMURF1 Kegg: 57154 H-InvDB: SMURF1

    (According to HUGE)
    About This Section
    HUGE: KIAA1625

    (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 SMURF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SMURF1 gene:
    Search GeneIP for patents involving SMURF1

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



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