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SUFU Gene

protein-coding   GIFtS: 62
GCID: GC10P104253

Suppressor Of Fused Homolog (Drosophila)

  See SUFU-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
Suppressor Of Fused Homolog (Drosophila)1 2
SUFUH2 3 5
SUFUXL2 5
PRO12802
Suppressor Of Fused Homolog2

External Ids:    HGNC: 164661   Entrez Gene: 516842   Ensembl: ENSG000001078827   OMIM: 6070355   UniProtKB: Q9UMX13   

Export aliases for SUFU gene to outside databases

Previous GC identifers: GC10P103156 GC10P103497 GC10P104394 GC10P103928 GC10P097897


(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 SUFU Gene:
The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling
cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a
negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma.
Alternative splicing results in multiple transcript variants.(provided by RefSeq, May 2010)

GeneCards Summary for SUFU Gene:
SUFU (suppressor of fused homolog (Drosophila)) is a protein-coding gene. Diseases associated with SUFU include medulloblastoma, desmoplastic, and nodular medulloblastoma. GO annotations related to this gene include protein kinase binding and signal transducer activity.

UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
Function: Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of
target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and
thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this
effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin
signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full
length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral
state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of
GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to
the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A)

Gene Wiki entry for SUFU 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 at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SUFU gene promoter:
         E2F-4   E2F-3a   E2F-5   SREBP-1c   E2F-2   Egr-2   AREB6   RORalpha1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSUFU promoter sequence
   Search Chromatin IP Primers for SUFU

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SUFU


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

Entrez Gene cytogenetic band: 10q24.32   Ensembl cytogenetic band:  10q24.32   HGNC cytogenetic band: 10q24.32

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P104253:  view genomic region     (about GC identifiers)

Start:
104,263,719 bp from pter      End:
104,393,292 bp from pter
Size:
129,574 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1 (See protein sequence)
Recommended Name: Suppressor of fused homolog  
Size: 484 amino acids; 53947 Da
Subunit: May form homodimers. Part of a DNA-bound corepressor complex containing SAP18, GLI1 and SIN3. Part of a
complex containing CTNNB1. Binds BTRC, GLI2, GLI3, SAP18 and STK36. Binds both free and DNA-bound GLI1. Interacts
with KIF7. Interacts with GLI3FL and this interaction regulates the formation of either repressor or activator
forms of GLI3. Its association with GLI3FL is regulated by Hh signaling and dissociation of the SUFU-GLI3
interaction requires the presence of the ciliary motor KIF3A (By similarity). Interacts with ULK3; inactivating
the protein kinase activity of ULK3. Interacts with RAB23
Selected PDB 3D structures from and Proteopedia for SUFU (see all 10):
1M1L (3D)        4BL8 (3D)        4BL9 (3D)        4BLA (3D)        4BLB (3D)        4BLD (3D)    
Secondary accessions: Q7LCP7 Q9NT90 Q9NZ07 Q9UHK2 Q9UHM8 Q9UMY0
Alternative splicing: 3 isoforms:  Q9UMX1-1   Q9UMX1-2   Q9UMX1-3   (Major isoform)

Explore the universe of human proteins at neXtProt for SUFU: NX_Q9UMX1

Explore proteomics data for SUFU at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys321
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171604.1  NP_057253.2  

    ENSEMBL proteins: 
     ENSP00000358918   ENSP00000358915   ENSP00000411597  

    SUFU Human Recombinant Protein Products:

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    Novus Biologicals SUFU Proteins
    Novus Biologicals SUFU Lysates
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    Cloud-Clone Corp. Proteins for SUFU

     
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    Novus Biologicals SUFU Antibodies
    Abcam antibodies for SUFU
    Cloud-Clone Corp. Antibodies for SUFU
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    LSBio Antibodies in human, mouse, rat for SUFU

    SUFU Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Search eBioscience for ELISAs for SUFU 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR016591 Suppressor_of_fused_euk
     IPR020941 SUFU-like_domain
     IPR024314 SUFU_C
     IPR007768 Suppressor_of_fused

    Graphical View of Domain Structure for InterPro Entry Q9UMX1

    ProtoNet protein and cluster: Q9UMX1

    UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
    Similarity: Belongs to the SUFU family


    Find genes that share domains with SUFU           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SUFU_HUMAN, Q9UMX1
    Function: Negative regulator in the hedgehog signaling pathway. Down-regulates GLI1-mediated transactivation of
    target genes. Part of a corepressor complex that acts on DNA-bound GLI1. May also act by linking GLI1 to BTRC and
    thereby targeting GLI1 to degradation by the proteasome. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this
    effect is overcome by binding of STK36 to both SUFU and a GLI protein. Negative regulator of beta-catenin
    signaling. Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full
    length form of GLI3 (GLI3FL). GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral
    state. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of
    GLI3FL into GLI3R. When Hh signaling is initiated, SUFU dissociates from GLI3FL and the latter translocates to
    the nucleus, where it is phosphorylated, destabilized, and converted to a transcriptional activator (GLI3A)

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity TAS10564661
    GO:0004871signal transducer activity TAS10559945
    GO:0005515protein binding IPI10564661
    GO:0008013beta-catenin binding IEA--
    GO:0008134transcription factor binding IDA10564661
         
    Find genes that share ontologies with SUFU           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Sufu):
     adipose tissue  cardiovascular system  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  homeostasis/metabolism  integument  mortality/aging  nervous system 
     no phenotypic analysis  normal  pigmentation  skeleton  tumorigenesis 

    Find genes that share phenotypes with SUFU           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for SUFU: Sufutm1Aeb Sufutm1Rto

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target SUFU:
    hsa-mir-378a-5p (MIRT002084), hsa-mir-93-3p (MIRT038747), hsa-mir-378a-3p (MIRT000670)

    Block miRNA regulation of human, mouse, rat SUFU using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUFU (see all 67):
    hsa-miR-4254 hsa-miR-1321 hsa-miR-1914* hsa-miR-1224-3p hsa-miR-1260b hsa-miR-3916 hsa-miR-4325 hsa-miR-376a*
    SwitchGear 3'UTR luciferase reporter plasmidSUFU 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SUFU
    Predesigned siRNA for gene silencing in human, mouse, rat SUFU

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

    Clone
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    OriGene clones in human, mouse for SUFU (see all 11)
    OriGene ORF clones in mouse, rat for SUFU
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SUFU (NM_016169)
    Sino Biological Human cDNA Clone for SUFU
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUFU
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUFU

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for SUFU 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUFU


    (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
    SUFU_HUMAN, Q9UMX1: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm NAS10564661
    GO:0005929cilium ----
    GO:0072372primary cilium IEA--

    Find genes that share ontologies with SUFU           About GenesLikeMe


    (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 SUFU About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Hedgehog Signaling Pathway
    Hedgehog Pathway0.32
    Hedgehog Signaling Pathway0.32
    2Basal cell carcinoma
    Basal cell carcinoma0.43
    Hedgehog signaling pathway0.43
    3Activation of cAMP-Dependent PKA
    Activation of PKA through GPCR0.71
    4ERK Signaling
    Molecular Mechanisms of Cancer0.51
    5G-Beta Gamma Signaling
    Hedgehog Signaling in Mammals0.32


    Find genes that share SuperPaths with SUFU           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for SUFU
        Activation of PKA through GPCR
    Molecular Mechanisms of Cancer
    Hedgehog Signaling in Mammals

    1 Cell Signaling Technology (CST) Pathway for SUFU
        Wnt / Hedgehog / Notch

    1 Tocris Bioscience Pathway for SUFU
        Hedgehog Pathway

    2 BioSystems Pathways for SUFU
        Hedgehog Signaling Pathway
    Hedgehog signaling events mediated by Gli proteins



    3 Kegg Pathways  (Kegg details for SUFU):
        Hedgehog signaling pathway
    Pathways in cancer
    Basal cell carcinoma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SUFU: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SUFU

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

    Selected Interacting proteins for SUFU (Q9UMX11, 2, 3 ENSP000003589184) via UniProtKB, MINT, STRING, and/or I2D (see all 79)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LINC00921O149782, 3MINT-68045 I2D: score=5 
    MID1IP1Q9NPA32, 3, ENSP000003387064MINT-67700 I2D: score=5 STRING: ENSP00000338706
    GLI1P081511, 3, ENSP000002286824EBI-740595,EBI-308084 I2D: score=3 STRING: ENSP00000228682
    STK36Q9NRP71, 3, ENSP000002957094EBI-740595,EBI-863797 I2D: score=2 STRING: ENSP00000295709
    ZNF263O149782, 3, ENSP000002190694MINT-68045 I2D: score=5 STRING: ENSP00000219069
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    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA10564661
    GO:0001501skeletal system development TAS10559945
    GO:0001843neural tube closure IEA--
    GO:0001947heart looping IEA--
    GO:0006355regulation of transcription, DNA-templated TAS10564661

    Find genes that share ontologies with SUFU           About GenesLikeMe



    (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 SUFU



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SUFU gene (2 alternative transcripts): 
    NM_001178133.1  NM_016169.3  

    Unigene Cluster for SUFU:

    Suppressor of fused homolog (Drosophila)
    Hs.404089  [show with all ESTs]
    Unigene Representative Sequence: NM_016169
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369902(uc001kvy.2 uc009xxe.2 uc009xxf.2) ENST00000369899(uc001kvx.3)
    ENST00000423559(uc001kvw.2) ENST00000471000
    miRNA
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    Block miRNA regulation of human, mouse, rat SUFU using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SUFU (see all 67):
    hsa-miR-4254 hsa-miR-1321 hsa-miR-1914* hsa-miR-1224-3p hsa-miR-1260b hsa-miR-3916 hsa-miR-4325 hsa-miR-376a*
    SwitchGear 3'UTR luciferase reporter plasmidSUFU 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SUFU
    Clone
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    OriGene ORF clones in mouse, rat for SUFU
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): SUFU (NM_016169)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SUFU
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SUFU
    Primer
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    OriGene qPCR primer pairs and template standards for SUFU
    OriGene qSTAR qPCR primer pairs in human, mouse for SUFU
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SUFU
      QuantiTect SYBR Green Assays in human, mouse, rat SUFU
      QuantiFast Probe-based Assays in human, mouse, rat SUFU

    Additional mRNA sequence: 

    AF144231.1 AF159447.1 AF172319.1 AF175770.1 AF222345.1 AK307370.1 AK311503.1 AK312319.1 
    AL137465.1 AY358550.1 BC013291.2 

    7 DOTS entries:

    DT.452595  DT.95275796  DT.40224712  DT.121287368  DT.121287371  DT.97812676  DT.95114414 

    Selected AceView cDNA sequences (see all 125):

    AF172319 BU677680 AF159447 AL137465 BM545981 AI199315 BI061515 AI766418 
    BQ437048 AI218084 AI765745 AI871667 BC013291 AY358550 AI431463 BP345300 
    AI952084 BU161970 AW589972 CF145567 AW593833 CA431091 AF144231 AW016570 

    GeneLoc Exon Structure


    (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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    SUFU expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    SUFU Expression
    About this image


    SUFU expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Early Retinal Progenitor Cells Retinal Neuroblastic Layer
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
    SUFU Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SUFU Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.404089

    UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
    Tissue specificity: Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing
    limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected
    in fetal testis, and at much lower levels in fetal brain, lung and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SUFU: 
              Hedgehog Signaling Pathway in human mouse rat
              Primary Cilia in human mouse rat
              Stem Cell Signaling in human mouse rat
              Notch Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SUFU
    OriGene qSTAR qPCR primer pairs in human, mouse for SUFU
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SUFU
    QuantiTect SYBR Green Assays in human, mouse, rat SUFU
    QuantiFast Probe-based Assays in human, mouse, rat SUFU
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SUFU

    (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 SUFU gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sufu1 , 5 suppressor of fused homolog (Drosophila)1, 5 91.12(n)1
    97.73(a)1
      19 (38.85 cM)5
    240691  NM_015752.31  NP_056567.21 
     463968965 
    chicken
    (Gallus gallus)
    Aves SUFU1 suppressor of fused homolog (Drosophila) 82.86(n)
    95.42(a)
      374118  NM_204264.1  NP_989595.1 
    lizard
    (Anolis carolinensis)
    Reptilia SUFU6
    suppressor of fused homolog (Drosophila)
    91(a)
    1 ↔ 1
    3(39670850-39769372)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480435022   -- 80.43(n)    48043502 
    zebrafish
    (Danio rerio)
    Actinopterygii sufu2 suppressor of fused homolog (Drosophila) 77.25(n)   334291  BC045348.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Su(fu)1 , 3 smoothened receptor signaling pathway3
    Suppressor of fused1
    37(a)3
    53.09(n)1
    42.65(a)1
      3 87C53
    415651  NM_080502.41  NP_536750.21 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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 SUFU (see all 2304)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1387844971,2
    Cuntested1104631751(+) GAGCAG/AGGGTG 2 -- int11Minor allele frequency- A:0.00EU 1319
    rs2022477571,2
    Cuntested1104719810(+) CATCAC/TTCAGC 2 -- int11Minor allele frequency- T:0.00EU 751
    rs38247561,2
    C,F,A,Huntested1104722096(-) CCTTCA/GGAAAA 2 -- int122Minor allele frequency- G:0.25NA NS EA CSA WA 2488
    rs2022477581,2
    Cuntested1104737738(+) TGTGCC/TGAACC 2 -- int11Minor allele frequency- T:0.00EU 719
    rs289420881,2,,4
    Cother1104626588(-) CCGGGA/GGCGCG 4 P L mis1 ese30--------
    rs2022477561,2
    Cother1104672402(+) CCTTTC/TGTCTG 4 R C mis10--------
    rs122428391,2
    C,F--104265797(+) ATTTGG/AAAAAA 2 -- int1 trp36Minor allele frequency- A:0.50NA WA CSA 12
    rs1112437011,2
    C--104270248(+) CGTGAG/-CGACT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs667668471,2
    C--104275883(+) TTTCT-/TT/TTT
            
    TTTTT
    4 -- int1 cds12NA CSA 4
    rs3770912021,2
    C--104278894(+) TCTCA-/AAAAAAA 2 -- int10--------

    HapMap Linkage Disequilibrium report for SUFU (104263719 - 104393292 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SUFU:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672073CNV Deletion23128226
    nsv467445CNV Loss19166990
    nsv895979CNV Loss21882294
    nsv895970CNV Loss21882294
    nsv895980CNV Loss21882294
    nsv825550CNV Loss20364138
    nsv831968CNV Gain17160897

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

    (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.)
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    OMIM gene information: 607035   
    OMIM disorders: 155255  607174  
    UniProtKB/Swiss-Prot: SUFU_HUMAN, Q9UMX1
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a
    preferential manifestation in children. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 7 diseases for SUFU:    
    About MalaCards
    medulloblastoma, desmoplastic    nodular medulloblastoma    familial meningioma    medulloblastoma, sufu-related
    nevoid basal cell carcinoma syndrome    medulloblastoma    meningioma

    3 diseases from the University of Copenhagen DISEASES database for SUFU:
    Medulloblastoma     Nevoid basal cell carcinoma syndrome     Basal cell carcinoma

    Find genes that share disorders with SUFU           About GenesLikeMe

    6 Novoseek inferred disease relationships for SUFU gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    medulloblastoma 73.6 3 17102621 (2)
    allelic loss 52.6 1 17102621 (1)
    somatic mutations 43.2 3 15488029 (1), 15656799 (1)
    carcinoma basal cell 42.8 1 15656799 (1)
    cancer 17.8 1 17102621 (1)
    tumors 0 1 17102621 (1)

    Genetic Association Database (GAD): SUFU
    Human Genome Epidemiology (HuGE) Navigator: SUFU (2 documents)

    Export disorders for SUFU 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 SUFU gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with SUFU)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Suppressor of fused regulates Gli activity through a dual binding mechanism. (PubMed id 15367681)1, 2, 3, 9 Merchant M.... de Sauvage F.J. (Mol. Cell. Biol. 2004)
    2. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)- dependent manner. (PubMed id 22365972)1, 2 Chi S.... Xie J. (Cell. Signal. 2012)
    3. 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)
    4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    5. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    8. Mutations in SUFU predispose to medulloblastoma. (PubMed id 12068298)1, 2 Taylor M.D.... Hogg D. (Nat. Genet. 2002)
    9. Gli regulation by the opposing activities of fused and suppressor of fused. (PubMed id 10806483)1, 2 Murone M.... de Sauvage F.J. (Nat. Cell Biol. 2000)
    10. Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli. (PubMed id 10564661)1, 2 Stone D.M.... Rosenthal A. (J. Cell Sci. 1999)

    (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: 51684 HGNC: 16466 AceView: SUFU Ensembl:ENSG00000107882 euGenes: HUgn51684
    ECgene: SUFU Kegg: 51684 H-InvDB: SUFU

    (According to HUGE)
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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 SUFU Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SUFU 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 SUFU gene:
    Search GeneIP for patents involving SUFU

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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