======= SBF1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SBF1
  * **<color #00a2e8>Official Name</color>**: SET binding factor 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=6305|6305]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O95248|O95248]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SBF1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SBF1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/603560|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Probable pseudophosphatase. Lacks several amino acids in the catalytic pocket which renders it catalytically inactive as a phosphatase. The pocket is however sufficiently preserved to bind phosphorylated substrates, and maybe protect them from phosphatases. Inhibits myoblast differentiation in vitro and induces oncogenic transformation in fibroblasts. According to PubMed:20937701, may function as a guanine nucleotide exchange factor (GEF) activating RAB28. Promotes the exchange of GDP to GTP, converting inactive GDP-bound Rab proteins into their active GTP-bound form. {ECO:0000269|PubMed:20937701, ECO:0000269|PubMed:9537414}.

<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'>
|DENN|
|SBF2|
|PH|
|dDENN|
|uDENN|
|GRAM|
|Myotub-related|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|phosphatase regulator activity|
|Rab guanyl-nucleotide exchange factor activity|
|protein tyrosine/serine/threonine phosphatase activity|
|phosphatase activity|
|phosphatidylinositol biosynthetic process|
|phosphatidylinositol metabolic process|
|glycerophospholipid biosynthetic process|
|protein dephosphorylation|
|glycerolipid biosynthetic process|
|phospholipid biosynthetic process|
|nuclear body|
|glycerophospholipid metabolic process|
|dephosphorylation|
|phospholipid metabolic process|
|glycerolipid metabolic process|
|regulation of GTPase activity|
|organophosphate biosynthetic process|
|spermatogenesis|
|male gamete generation|
|lipid biosynthetic process|
|gamete generation|
|perinuclear region of cytoplasm|
|multicellular organismal reproductive process|
|sexual reproduction|
|multicellular organism reproduction|
|organophosphate metabolic process|
|endoplasmic reticulum membrane|
|cellular lipid metabolic process|
|multi-organism reproductive process|
|lipid metabolic process|
|regulation of hydrolase activity|
|reproductive process|
|reproduction|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp240|Pyridostatin 4μM R05 exp240]]|2.26|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:e:ercc2|ERCC2]]|0.417|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 10768
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.32 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SBF1 Expression in NALM6 Cells: 8.32'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>