Human Gene SUFU (uc001kvw.2) Description and Page Index
  Description: Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 2, mRNA.
RefSeq Summary (NM_001178133): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:104,263,719-104,378,416 Size: 114,698 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr10:104,263,910-104,377,335 Size: 113,426 Coding Exon Count: 10 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:104,263,719-104,378,416)mRNA (may differ from genome)Protein (481 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMGIOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SUFU
CDC HuGE Published Literature: SUFU

-  MalaCards Disease Associations
  MalaCards Gene Search: SUFU
Diseases sorted by gene-association score: medulloblastoma* (980), basal cell nevus syndrome* (967), meningioma, familial* (271), medulloblastoma, sufu-related* (100), meningioma, familial susceptibility* (100), infundibulocystic basal cell carcinoma (24), nodular medulloblastoma (23), atypical choroid plexus papilloma (16), basal cell carcinoma (13), childhood medulloblastoma (11), infratentorial cancer (10), cerebellum cancer (7), cerebellar liponeurocytoma (7), microform holoprosencephaly* (6), split foot (6), adult medulloblastoma (6), split hand-split foot malformation (6), keratocystic odontogenic tumor (5), split-hand/foot malformation 5 (5), split hand-foot malformation 2 (5), split-hand/foot malformation 4 (5), split-hand/foot malformation 3 (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.85 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 190.70 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -71.90191-0.376 Picture PostScript Text
3' UTR -353.121081-0.327 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF05076 - Suppressor of fused protein (SUFU)
PF12470 - Suppressor of Fused Gli/Ci N terminal binding domain

SCOP Domains:
103359 - Suppressor of Fused, N-terminal domain

ModBase Predicted Comparative 3D Structure on Q9UMX1-3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK312319 - Homo sapiens cDNA, FLJ92629, highly similar to Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), mRNA.
BC013291 - Homo sapiens suppressor of fused homolog (Drosophila), mRNA (cDNA clone MGC:3346 IMAGE:3533158), complete cds.
AF175770 - Homo sapiens suppressor of fused mRNA, complete cds.
AF144231 - Homo sapiens Suppressor of Fused mRNA, alternatively spliced, complete cds.
AY358550 - Homo sapiens clone DNA33455 SUFU (UNQ650) mRNA, complete cds.
AF159447 - Homo sapiens Suppressor of Fused mRNA, alternatively spliced form 2, complete cds.
AF222345 - Homo sapiens suppressor of fused variant 3 mRNA, alternatively spliced, complete cds.
KJ905478 - Synthetic construct Homo sapiens clone ccsbBroadEn_15072 SUFU gene, encodes complete protein.
AB590231 - Synthetic construct DNA, clone: pFN21AB5844, Homo sapiens SUFU gene for suppressor of fused homolog, without stop codon, in Flexi system.
DQ895804 - Synthetic construct Homo sapiens clone IMAGE:100010264; FLH187795.01L; RZPDo839D03149D suppressor of fused homolog (Drosophila) (SUFU) gene, encodes complete protein.
DQ892586 - Synthetic construct clone IMAGE:100005216; FLH187799.01X; RZPDo839D03150D suppressor of fused homolog (Drosophila) (SUFU) gene, encodes complete protein.
KX708747 - Homo sapiens cell line SW1990 suppressor of fused (SUFU) mRNA, complete cds, alternatively spliced.
AF172319 - Homo sapiens suppressor of fused mRNA, partial cds.
JD322113 - Sequence 303137 from Patent EP1572962.
JD126113 - Sequence 107137 from Patent EP1572962.
AK307370 - Homo sapiens cDNA, FLJ97318.
AK311503 - Homo sapiens cDNA, FLJ18545.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04340 - Hedgehog signaling pathway
hsa05200 - Pathways in cancer
hsa05217 - Basal cell carcinoma

BioCarta from NCI Cancer Genome Anatomy Project
h_shhPathway - Sonic Hedgehog (Shh) Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q9UMX1 (Reactome details) participates in the following event(s):

R-HSA-5610723 GLI proteins bind SUFU
R-HSA-5635839 ULK3:SUFU dissociates
R-HSA-5635859 GLI:SUFU dissociates
R-HSA-5610746 SCF(beta-TrCP) ubiquitinates p-GLI3
R-HSA-5610741 PKA phosphorylates GLI1
R-HSA-5610717 PKA phosphorylates GLI2
R-HSA-5610720 PKA phosphorylates GLI3
R-HSA-5610737 NUMB:ITCH bind and ubiquitnate GLI1
R-HSA-5610732 GSK3 phosphorylates p-GLI3
R-HSA-5610722 CK1 phosphorylates p-GLI3
R-HSA-5610745 SCF(beta-TrCP) ubiquitinates p-GLI2
R-HSA-5610730 GSK3 phosphorylates p-GLI2
R-HSA-5610718 CK1 phosphorylates p-GLI2
R-HSA-5610742 SCF(beta-TrCP) ubiquitinates p-GLI1
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome
R-HSA-5610783 Degradation of GLI2 by the proteasome
R-HSA-5610780 Degradation of GLI1 by the proteasome
R-HSA-5358351 Signaling by Hedgehog
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: AF222345, NM_001178133, NP_001171604, Q9UMX1-3, UNQ650/PRO1280
UCSC ID: uc001kvw.2
RefSeq Accession: NM_001178133
Protein: Q9UMX1-3, splice isoform of Q9UMX1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SUFU:
bcns (Nevoid Basal Cell Carcinoma Syndrome)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AF222345.1
exon count: 10CDS single in 3' UTR: no RNA size: 2601
ORF size: 1446CDS single in intron: no Alignment % ID: 99.88
txCdsPredict score: 3092.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 1231# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.