SUFU [The Human Chemical-Genetic Interaction Map Project]

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======= SUFU =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SUFU
  * **<color #00a2e8>Official Name</color>**: SUFU negative regulator of hedgehog signaling
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=51684|51684]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UMX1|Q9UMX1]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SUFU&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SUFU|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607035|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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). {ECO:0000250|UniProtKB:Q9Z0P7, ECO:0000269|PubMed:10559945, ECO:0000269|PubMed:10564661, ECO:0000269|PubMed:10806483, ECO:0000269|PubMed:12068298, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15367681, ECO:0000269|PubMed:22365972, ECO:0000269|PubMed:24217340, ECO:0000269|PubMed:24311597}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|SUFU|
|SUFU C|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|smoothened signaling pathway involved in ventral spinal cord interneuron specification|
|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification|
|smoothened signaling pathway involved in ventral spinal cord patterning|
|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning|
|regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning|
|ventral spinal cord interneuron specification|
|cell fate specification involved in pattern specification|
|negative regulation of protein import|
|negative regulation of protein import into nucleus|
|spinal cord motor neuron cell fate specification|
|cell fate commitment involved in pattern specification|
|ventral spinal cord interneuron fate commitment|
|cytoplasmic sequestering of transcription factor|
|ventral spinal cord interneuron differentiation|
|negative regulation of nucleocytoplasmic transport|
|spinal cord dorsal/ventral patterning|
|cytoplasmic sequestering of protein|
|spinal cord patterning|
|negative regulation of embryonic development|
|negative regulation of protein localization to nucleus|
|negative regulation of smoothened signaling pathway|
|neuron fate specification|
|spinal cord motor neuron differentiation|
|ciliary base|
|negative regulation of intracellular protein transport|
|negative regulation of osteoblast differentiation|
|coronary vasculature development|
|ciliary tip|
|ventral spinal cord development|
|negative regulation of ubiquitin-dependent protein catabolic process|
|aorta development|
|cell differentiation in spinal cord|
|regulation of protein import into nucleus|
|regulation of protein import|
|negative regulation of intracellular transport|
|heart looping|
|neuron fate commitment|
|determination of heart left/right asymmetry|
|embryonic heart tube morphogenesis|
|ventricular septum development|
|smoothened signaling pathway|
|negative regulation of proteolysis involved in cellular protein catabolic process|
|negative regulation of ossification|
|embryonic heart tube development|
|regulation of smoothened signaling pathway|
|dorsal/ventral pattern formation|
|beta-catenin binding|
|artery development|
|negative regulation of cellular protein catabolic process|
|cell fate specification|
|neural tube closure|
|tube closure|
|primary neural tube formation|
|maintenance of protein location|
|neural tube formation|
|regulation of nucleocytoplasmic transport|
|spinal cord development|
|cardiac septum development|
|regulation of osteoblast differentiation|
|negative regulation of cellular protein localization|
|regulation of protein localization to nucleus|
|determination of left/right symmetry|
|embryonic epithelial tube formation|
|determination of bilateral symmetry|
|specification of symmetry|
|cardiac ventricle development|
|regulation of embryonic development|
|epithelial tube formation|
|negative regulation of protein catabolic process|
|morphogenesis of embryonic epithelium|
|tube formation|
|regulation of ubiquitin-dependent protein catabolic process|
|neural tube development|
|negative regulation of DNA-binding transcription factor activity|
|maintenance of location|
|cardiac chamber development|
|central nervous system neuron differentiation|
|negative regulation of protein transport|
|negative regulation of establishment of protein localization|
|regulation of ossification|
|regulation of proteolysis involved in cellular protein catabolic process|
|regulation of intracellular protein transport|
|transcription corepressor activity|
|cell fate commitment|
|regulation of cellular protein catabolic process|
|heart morphogenesis|
|negative regulation of cellular catabolic process|
|embryonic organ morphogenesis|
|epithelial tube morphogenesis|
|negative regulation of catabolic process|
|negative regulation of nervous system development|
|regionalization|
|transcription factor binding|
|regulation of intracellular transport|
|negative regulation of proteolysis|
|skin development|
|regulation of protein catabolic process|
|regulation of DNA-binding transcription factor activity|
|morphogenesis of an epithelium|
|embryonic organ development|
|pattern specification process|
|protein kinase binding|
|negative regulation of transport|
|blood vessel development|
|skeletal system development|
|vasculature development|
|cardiovascular system development|
|heart development|
|regulation of cellular protein localization|
|tissue morphogenesis|
|embryonic morphogenesis|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|regulation of protein transport|
|negative regulation of cell differentiation|
|regulation of proteolysis|
|regulation of peptide transport|
|regulation of establishment of protein localization|
|regulation of cellular catabolic process|
|tube development|
|negative regulation of transcription by RNA polymerase II|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|regulation of cellular localization|
|regulation of nervous system development|
|negative regulation of developmental process|
|animal organ morphogenesis|
|embryo development|
|central nervous system development|
|regulation of catabolic process|
|neuron differentiation|
|regulation of protein localization|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|epithelium development|
|negative regulation of molecular function|
|negative regulation of transcription, DNA-templated|
|negative regulation of multicellular organismal process|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|negative regulation of signal transduction|
|proteolysis|
|negative regulation of RNA metabolic process|
|negative regulation of cell communication|
|negative regulation of signaling|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|negative regulation of macromolecule biosynthetic process|
|negative regulation of cellular biosynthetic process|
|generation of neurons|
|negative regulation of biosynthetic process|
|negative regulation of response to stimulus|
|neurogenesis|
|negative regulation of gene expression|
|tissue development|
|regulation of cell differentiation|
|regulation of transport|
</modal>
\\

 === CRISPR Data ===
<button type='default' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='default' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
No hits were found.
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
No correlation found to any other genes in chemogenomics.
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/25|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/7|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 5671
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.37 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SUFU Expression in NALM6 Cells: 4.37'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>