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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Cancer-related genes Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
10
Cytoband
q24.32
Chromosome location (bp)
102503972 - 102633535
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Negative regulator in the hedgehog/smoothened signaling pathway 1,2,3,4,5,6,7,8,9,10,11. Down-regulates GLI1-mediated transactivation of target genes 12,13,14. Down-regulates GLI2-mediated transactivation of target genes 15,16. 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 17,18,19,20. Sequesters GLI1, GLI2 and GLI3 in the cytoplasm, this effect is overcome by binding of STK36 to both SUFU and a GLI protein 21,22,23,24. Negative regulator of beta-catenin signaling (By similarity). Regulates the formation of either the repressor form (GLI3R) or the activator form (GLI3A) of the full-length form of GLI3 (GLI3FL) 25,26. GLI3FL is complexed with SUFU in the cytoplasm and is maintained in a neutral state 27,28. Without the Hh signal, the SUFU-GLI3 complex is recruited to cilia, leading to the efficient processing of GLI3FL into GLI3R 29,30. 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) 31,32. Required for normal embryonic development (By similarity). Required for the proper formation of hair follicles and the control of epidermal differentiation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Gene summary (Entrez)i
Useful information about the gene from Entrez
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]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9UMX1 [Direct mapping] Suppressor of fused homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0007165[signal transduction] GO:0008134[transcription factor binding] GO:0019901[protein kinase binding] GO:0042308[negative regulation of protein import into nucleus] GO:0042994[cytoplasmic sequestering of transcription factor] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0045668[negative regulation of osteoblast differentiation] GO:0045879[negative regulation of smoothened signaling pathway] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex]
Q9UMX1 [Direct mapping] Suppressor of fused homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001843[neural tube closure] GO:0001947[heart looping] GO:0003281[ventricular septum development] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005929[cilium] GO:0006355[regulation of DNA-templated transcription] GO:0007165[signal transduction] GO:0007224[smoothened signaling pathway] GO:0007368[determination of left/right symmetry] GO:0008013[beta-catenin binding] GO:0008134[transcription factor binding] GO:0019901[protein kinase binding] GO:0021513[spinal cord dorsal/ventral patterning] GO:0021775[smoothened signaling pathway involved in ventral spinal cord interneuron specification] GO:0021776[smoothened signaling pathway involved in spinal cord motor neuron cell fate specification] GO:0035904[aorta development] GO:0042308[negative regulation of protein import into nucleus] GO:0042994[cytoplasmic sequestering of transcription factor] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043588[skin development] GO:0045668[negative regulation of osteoblast differentiation] GO:0045879[negative regulation of smoothened signaling pathway] GO:0060831[smoothened signaling pathway involved in dorsal/ventral neural tube patterning] GO:0060976[coronary vasculature development] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1901621[negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex] GO:2000059[negative regulation of ubiquitin-dependent protein catabolic process]
Q9UMX1 [Direct mapping] Suppressor of fused homolog
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Somatic Mutations COSMIC Large Deletions COSMIC Germline Mutations COSMIC Frameshift Mutations Disease related genes Human disease related genes Cancers Cancers of eye, brain, and central nervous system Congenital malformations Congenital malformations of the nervous system Skin diseases Skin and soft tissue diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0007165[signal transduction] GO:0008134[transcription factor binding] GO:0019901[protein kinase binding] GO:0042308[negative regulation of protein import into nucleus] GO:0042994[cytoplasmic sequestering of transcription factor] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0045668[negative regulation of osteoblast differentiation] GO:0045879[negative regulation of smoothened signaling pathway] GO:0097542[ciliary tip] GO:0097546[ciliary base] GO:1990787[negative regulation of hh target transcription factor activity] GO:1990788[GLI-SUFU complex]
The Human Protein Atlas project is funded
