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Aliases for SUFU Gene

Aliases for SUFU Gene

  • Suppressor Of Fused Homolog (Drosophila) 2 3
  • SUFUH 3 4 6
  • SUFUXL 3 6
  • Suppressor Of Fused Homolog 3
  • PRO1280 3

External Ids for SUFU Gene

Previous GeneCards Identifiers for SUFU Gene

  • GC10P103156
  • GC10P103497
  • GC10P104394
  • GC10P103928
  • GC10P104253
  • GC10P097897

Summaries for SUFU Gene

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 and medulloblastoma, sufu-related. Among its related pathways are Pathways in cancer and ERK Signaling. GO annotations related to this gene include protein kinase binding and signal transducer activity.

UniProtKB/Swiss-Prot for SUFU Gene

  • 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). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

Gene Wiki entry for SUFU Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SUFU Gene

Genomics for SUFU Gene

Regulatory Elements for SUFU Gene

Genomic Location for SUFU Gene

Start:
102,503,962 bp from pter
End:
102,633,535 bp from pter
Size:
129,574 bases
Orientation:
Plus strand

Genomic View for SUFU Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SUFU Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SUFU Gene

Proteins for SUFU Gene

  • Protein details for SUFU Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UMX1-SUFU_HUMAN
    Recommended name:
    Suppressor of fused homolog
    Protein Accession:
    Q9UMX1
    Secondary Accessions:
    • Q7LCP7
    • Q9NT90
    • Q9NZ07
    • Q9UHK2
    • Q9UHM8
    • Q9UMY0

    Protein attributes for SUFU Gene

    Size:
    484 amino acids
    Molecular mass:
    53947 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for SUFU Gene

    Alternative splice isoforms for SUFU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUFU Gene

Proteomics data for SUFU Gene at MOPED

Post-translational modifications for SUFU Gene

  • Ubiquitination at Lys321
  • Modification sites at PhosphoSitePlus

Other Protein References for SUFU Gene

No data available for DME Specific Peptides for SUFU Gene

Domains for SUFU Gene

Protein Domains for SUFU Gene

Graphical View of Domain Structure for InterPro Entry

Q9UMX1

UniProtKB/Swiss-Prot:

SUFU_HUMAN :
  • Q9UMX1
Family:
  • Belongs to the SUFU family.
genes like me logo Genes that share domains with SUFU: view

No data available for Gene Families for SUFU Gene

Function for SUFU Gene

Molecular function for SUFU Gene

UniProtKB/Swiss-Prot 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). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

Gene Ontology (GO) - Molecular Function for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity TAS 10564661
GO:0004871 signal transducer activity TAS 10559945
GO:0005515 protein binding IPI 10564661
GO:0008013 beta-catenin binding IEA --
GO:0008134 transcription factor binding IDA 10564661
genes like me logo Genes that share ontologies with SUFU: view
genes like me logo Genes that share phenotypes with SUFU: view

Animal Models for SUFU Gene

MGI Knock Outs for SUFU:

miRNA for SUFU Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SUFU Gene

Localization for SUFU Gene

Subcellular locations from UniProtKB/Swiss-Prot for SUFU Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SUFU Gene COMPARTMENTS Subcellular localization image for SUFU gene
Compartment Confidence
nucleus 5
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10806483
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm NAS 10564661
GO:0005829 cytosol TAS --
GO:0005929 cilium --
genes like me logo Genes that share ontologies with SUFU: view

Pathways for SUFU Gene

genes like me logo Genes that share pathways with SUFU: view

Pathways by source for SUFU Gene

1 Cell Signaling Technology pathway for SUFU Gene
1 Tocris pathway for SUFU Gene

Gene Ontology (GO) - Biological Process for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 10564661
GO:0001501 skeletal system development TAS 10559945
GO:0001843 neural tube closure IEA --
GO:0001947 heart looping IEA --
GO:0006355 regulation of transcription, DNA-templated TAS 10564661
genes like me logo Genes that share ontologies with SUFU: view

Transcripts for SUFU Gene

Unigene Clusters for SUFU Gene

Suppressor of fused homolog (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SUFU Gene

No ASD Table

Relevant External Links for SUFU Gene

GeneLoc Exon Structure for
SUFU
ECgene alternative splicing isoforms for
SUFU

Expression for SUFU Gene

mRNA expression in normal human tissues for SUFU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SUFU Gene

SOURCE GeneReport for Unigene cluster for SUFU Gene Hs.404089

mRNA Expression by UniProt/SwissProt for SUFU Gene

Q9UMX1-SUFU_HUMAN
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.
genes like me logo Genes that share expressions with SUFU: view

No data available for mRNA differential expression in normal tissues for SUFU Gene

Orthologs for SUFU Gene

This gene was present in the common ancestor of animals.

Orthologs for SUFU Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SUFU 35
  • 99.79 (n)
  • 100 (a)
SUFU 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SUFU 35
  • 93.75 (n)
  • 98.84 (a)
SUFU 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SUFU 35
  • 93.39 (n)
  • 98.55 (a)
SUFU 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sufu 35
  • 91.12 (n)
  • 97.73 (a)
Sufu 16
Sufu 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SUFU 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 96 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sufu 35
  • 91.87 (n)
  • 97.52 (a)
chicken
(Gallus gallus)
Aves SUFU 35
  • 82.86 (n)
  • 95.42 (a)
SUFU 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SUFU 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sufu 35
  • 77.78 (n)
  • 89.54 (a)
zebrafish
(Danio rerio)
Actinopterygii sufu 35
  • 76.02 (n)
  • 85.09 (a)
sufu 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001948 35
  • 52.93 (n)
  • 47.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta Su(fu) 35
  • 53.09 (n)
  • 42.65 (a)
Su(fu) 36
  • 37 (a)
OneToOne
Su(fu) 37
  • 37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2836 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9284 36
  • 63 (a)
OneToOne
Species with no ortholog for SUFU:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SUFU Gene

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

Paralogs for SUFU Gene

No data available for Paralogs for SUFU Gene

Variants for SUFU Gene

Sequence variations from dbSNP and Humsavar for SUFU Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs729023 -- 102,582,130(+) CACAG(C/T)GCCAA intron-variant
rs729024 -- 102,582,218(+) TGGGG(C/T)GTTAG intron-variant
rs729025 -- 102,582,449(+) ATATC(C/T)GGGAC intron-variant
rs746551 -- 102,582,826(-) TGGGT(A/G)GACAC intron-variant
rs746552 -- 102,582,744(-) TTATG(C/T)TGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SUFU Gene

Variant ID Type Subtype PubMed ID
nsv895970 CNV Loss 21882294
nsv831968 CNV Gain 17160897
nsv467445 CNV Loss 19166990
nsv895979 CNV Loss 21882294
esv2672073 CNV Deletion 23128226
nsv825550 CNV Loss 20364138
nsv895980 CNV Loss 21882294

Relevant External Links for SUFU Gene

HapMap Linkage Disequilibrium report
SUFU
Human Gene Mutation Database (HGMD)
SUFU

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SUFU Gene

Disorders for SUFU Gene

(2) OMIM Diseases for SUFU Gene (607035)

UniProtKB/Swiss-Prot

SUFU_HUMAN
  • 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.

(3) University of Copenhagen DISEASES for SUFU Gene

(6) Novoseek inferred disease relationships for SUFU Gene

Disease -log(P) Hits PubMed IDs
medulloblastoma 73.6 2
allelic loss 52.6 1
somatic mutations 43.2 2
carcinoma basal cell 42.8 1
cancer 17.8 1

Relevant External Links for SUFU

Genetic Association Database (GAD)
SUFU
Human Genome Epidemiology (HuGE) Navigator
SUFU
genes like me logo Genes that share disorders with SUFU: view

Publications for SUFU Gene

  1. Suppressor of fused regulates Gli activity through a dual binding mechanism. (PMID: 15367681) Merchant M. … de Sauvage F.J. (Mol. Cell. Biol. 2004) 2 3 4 23
  2. Mammalian suppressor-of-fused modulates nuclear-cytoplasmic shuttling of Gli-1. (PMID: 10559945) Kogerman P. … Zaphiropoulos P.G. (Nat. Cell Biol. 1999) 3 4
  3. Characterization of the human suppressor of fused, a negative regulator of the zinc-finger transcription factor Gli. (PMID: 10564661) Stone D.M. … Rosenthal A. (J. Cell Sci. 1999) 3 4
  4. Gli regulation by the opposing activities of fused and suppressor of fused. (PMID: 10806483) Murone M. … de Sauvage F.J. (Nat. Cell Biol. 2000) 3 4
  5. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. (PMID: 16691619) Lyle R. … Antonarakis S.E. (Am. J. Med. Genet. A 2006) 3 23

Products for SUFU Gene

Sources for SUFU Gene

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