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Aliases for SUFU Gene

Aliases for SUFU Gene

  • SUFU Negative Regulator Of Hedgehog Signaling 2 3 5
  • SUFUH 3 4
  • Suppressor Of Fused Homolog (Drosophila) 2
  • Suppressor Of Fused Homolog 3
  • PRO1280 3
  • JBTS32 3
  • SUFUXL 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]

CIViC summary for SUFU Gene

GeneCards Summary for SUFU Gene

SUFU (SUFU Negative Regulator Of Hedgehog Signaling) is a Protein Coding gene. Diseases associated with SUFU include Medulloblastoma and Basal Cell Nevus Syndrome. Among its related pathways are G-Beta Gamma Signaling and ERK Signaling. Gene Ontology (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 (PubMed:15367681, PubMed:24311597, PubMed:24217340). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). 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 (PubMed:10806483, PubMed:24217340). 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 normal embryonic development. Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

Gene Wiki entry for SUFU Gene

Additional gene information 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

GeneHancer (GH) Regulatory Elements for SUFU Gene

Promoters and enhancers for SUFU Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I102501 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.5 515 4.6 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ACTR1A SUFU MFSD13A PDCD11 TAF5 PPRC1 PCGF6 RNU6-43P C10orf95 FBXL15
GH10I101828 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 24.4 -671.9 -671891 4.4 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A ZNF2 ZBTB7B ZNF766 ZNF302 PPRC1 LDB1 GBF1 LZTS2 MRPL43 HPS6 NOLC1 SUFU ENSG00000272572 KCNIP2-AS1
GH10I102064 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.1 -437.2 -437227 2.5 HDGF FOXA2 ARNT ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 ZNF416 HPS6 SUFU LDB1 KCNIP2 GC10P102070
GH10I102641 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 +144.8 144839 12.7 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF143 SP3 NFYC SSRP1 ZNF585B TRIM8 SFXN2 MFSD13A RPEL1 PDCD11 AS3MT PPRC1 TAF5 LDB1 ARL3
GH10I102431 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 11.3 -68.7 -68677 5.5 HDGF FOXA2 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SLC30A9 POLR2B CUEDC2 HPS6 PPRC1 LDB1 PDCD11 TAF5 SUFU GBF1 PCGF6 RPARP-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SUFU on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SUFU gene promoter:

Genomic Locations for SUFU Gene

Genomic Locations for SUFU Gene
chr10:102,502,874-102,633,535
(GRCh38/hg38)
Size:
130,662 bases
Orientation:
Plus strand
chr10:104,263,719-104,393,292
(GRCh37/hg19)

Genomic View for SUFU Gene

Genes around SUFU on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SUFU Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:20643644). Interacts with RAB23 (PubMed:22365972).

    Three dimensional structures from OCA and Proteopedia for SUFU Gene

    Alternative splice isoforms for SUFU Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SUFU Gene

Post-translational modifications for SUFU Gene

No data available for DME Specific Peptides for SUFU Gene

Domains & Families for SUFU Gene

Gene Families for SUFU Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q9UMX1

UniProtKB/Swiss-Prot:

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

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 (PubMed:15367681, PubMed:24311597, PubMed:24217340). Down-regulates GLI2-mediated transactivation of target genes (PubMed:24311597, PubMed:24217340). 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 (PubMed:10806483, PubMed:24217340). 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 normal embryonic development. Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity).

Phenotypes From GWAS Catalog for SUFU Gene

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

Human Phenotype Ontology for SUFU Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SUFU Gene

MGI Knock Outs for SUFU:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SUFU gene
Compartment Confidence
nucleus 5
cytosol 5
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10806483
GO:0005737 cytoplasm NAS 10564661
GO:0005829 cytosol TAS --
GO:0005929 cilium IEA --
GO:0097542 ciliary tip TAS --
genes like me logo Genes that share ontologies with SUFU: view

Pathways & Interactions for SUFU Gene

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

SIGNOR curated interactions for SUFU Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SUFU Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 10564661
GO:0001501 skeletal system development TAS 10559945
GO:0001843 neural tube closure IEA --
GO:0001947 heart looping IEA --
GO:0003281 ventricular septum development IEA --
genes like me logo Genes that share ontologies with SUFU: view

Drugs & Compounds for SUFU Gene

No Compound Related Data Available

Transcripts for SUFU Gene

Unigene Clusters for SUFU Gene

Suppressor of fused homolog (Drosophila):
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SUFU Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SUFU Gene

This gene is overexpressed in Gallbladder (29.5), Testis (26.0), and Prostate (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SUFU Gene



Protein tissue co-expression partners for SUFU Gene

NURSA nuclear receptor signaling pathways regulating expression of SUFU Gene:

SUFU

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.

Evidence on tissue expression from TISSUES for SUFU Gene

  • Nervous system(4.7)
  • Muscle(4.3)
  • Lung(4.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SUFU Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • ovary
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns 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 34 33
  • 99.79 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SUFU 34
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
OneToMany
-- 34
  • 91 (a)
OneToMany
cow
(Bos Taurus)
Mammalia SUFU 33 34
  • 93.75 (n)
dog
(Canis familiaris)
Mammalia SUFU 33 34
  • 93.39 (n)
rat
(Rattus norvegicus)
Mammalia Sufu 33
  • 91.87 (n)
mouse
(Mus musculus)
Mammalia Sufu 33 16 34
  • 91.12 (n)
chicken
(Gallus gallus)
Aves SUFU 33 34
  • 82.86 (n)
lizard
(Anolis carolinensis)
Reptilia SUFU 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sufu 33
  • 77.78 (n)
zebrafish
(Danio rerio)
Actinopterygii sufu 33 33
  • 76.02 (n)
fruit fly
(Drosophila melanogaster)
Insecta Su(fu) 35 33 34
  • 53.09 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001948 33
  • 52.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9284 34
  • 63 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2836 33
Species where no ortholog for SUFU was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1022685386 uncertain-significance, Medulloblastoma 102,632,798(+) C/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1041764198 uncertain-significance, Medulloblastoma 102,631,606(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1043574191 uncertain-significance, Gorlin syndrome, Medulloblastoma 102,615,302(+) A/T coding_sequence_variant, missense_variant
rs1060501103 uncertain-significance, Gorlin syndrome, Medulloblastoma 102,597,126(+) TTCTTTTC/TTC intron_variant
rs1060501104 uncertain-significance, Gorlin syndrome, Medulloblastoma 102,597,297(+) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
dgv279e212 CNV loss 25503493
dgv508n106 CNV deletion 24896259
esv2672073 CNV deletion 23128226
esv3624400 CNV loss 21293372
nsv467445 CNV loss 19166990
nsv552059 CNV loss 21841781
nsv825550 CNV loss 20364138
nsv831968 CNV gain 17160897
nsv948170 CNV duplication 23825009

Variation tolerance for SUFU Gene

Residual Variation Intolerance Score: 17.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SUFU Gene

Human Gene Mutation Database (HGMD)
SUFU
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SUFU

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

Disorders for SUFU Gene

MalaCards: The human disease database

(23) MalaCards diseases for SUFU Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
medulloblastoma
  • mdb
basal cell nevus syndrome
  • bcns
joubert syndrome 32
  • jbts32
meningioma, familial
  • meningioma, familial, susceptibility to
nodular medulloblastoma
  • medulloblastoma, with extensive nodularity
- elite association - COSMIC cancer census association via MalaCards
Search SUFU in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SUFU_HUMAN
  • Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. {ECO:0000269 PubMed:12068298}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SUFU

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SUFU: view

No data available for Genatlas for SUFU Gene

Publications for SUFU Gene

  1. Suppressor of fused regulates Gli activity through a dual binding mechanism. (PMID: 15367681) Merchant M … de Sauvage FJ (Molecular and cellular biology 2004) 2 3 4 22 58
  2. Structural insight into the mutual recognition and regulation between Suppressor of Fused and Gli/Ci. (PMID: 24217340) Zhang Y … Wu G (Nature communications 2013) 3 4 58
  3. Structural basis of SUFU-GLI interaction in human Hedgehog signalling regulation. (PMID: 24311597) Cherry AL … Toftgård R (Acta crystallographica. Section D, Biological crystallography 2013) 3 4 58
  4. Rab23 negatively regulates Gli1 transcriptional factor in a Su(Fu)-dependent manner. (PMID: 22365972) Chi S … Xie J (Cellular signalling 2012) 3 4 58
  5. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage head and neck cancer. (PMID: 20819778) Zhang X … Wu X (Carcinogenesis 2010) 3 44 58

Products for SUFU Gene

Sources for SUFU Gene

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