SBDS [The Human Chemical-Genetic Interaction Map Project]

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======= SBDS =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SBDS
  * **<color #00a2e8>Official Name</color>**: SBDS ribosome maturation factor
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=51119|51119]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y3A5|Q9Y3A5]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SBDS&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SBDS|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607444|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Required for the assembly of mature ribosomes and ribosome biogenesis. Together with EFL1, triggers the GTP- dependent release of EIF6 from 60S pre-ribosomes in the cytoplasm, thereby activating ribosomes for translation competence by allowing 80S ribosome assembly and facilitating EIF6 recycling to the nucleus, where it is required for 60S rRNA processing and nuclear export. Required for normal levels of protein synthesis. May play a role in cellular stress resistance. May play a role in cellular response to DNA damage. May play a role in cell proliferation. {ECO:0000269|PubMed:17643419, ECO:0000269|PubMed:19602484, ECO:0000269|PubMed:19759903, ECO:0000269|PubMed:21536732}.

<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'>
|SBDS C|
|SBDS|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|mature ribosome assembly|
|bone marrow development|
|inner cell mass cell proliferation|
|blastocyst growth|
|rRNA binding|
|bone mineralization|
|ribosome binding|
|ribosome assembly|
|mitotic spindle organization|
|biomineralization|
|biomineral tissue development|
|blastocyst development|
|microtubule cytoskeleton organization involved in mitosis|
|spindle pole|
|leukocyte chemotaxis|
|spindle organization|
|bone development|
|cell chemotaxis|
|rRNA processing|
|rRNA metabolic process|
|ribonucleoprotein complex assembly|
|microtubule binding|
|ribonucleoprotein complex subunit organization|
|ossification|
|ribosome biogenesis|
|in utero embryonic development|
|leukocyte migration|
|ncRNA processing|
|developmental growth|
|growth|
|ribonucleoprotein complex biogenesis|
|ncRNA metabolic process|
|microtubule cytoskeleton organization|
|skeletal system development|
|chemotaxis|
|taxis|
|cell population proliferation|
|mitotic cell cycle process|
|hematopoietic or lymphoid organ development|
|chordate embryonic development|
|immune system development|
|embryo development ending in birth or egg hatching|
|microtubule-based process|
|mitotic cell cycle|
|organelle assembly|
|cellular protein-containing complex assembly|
|nucleolus|
|RNA processing|
|cell migration|
|embryo development|
|cell cycle process|
|localization of cell|
|cell motility|
|cytoskeleton organization|
|locomotion|
|cell cycle|
|RNA binding|
|movement of cell or subcellular component|
|protein-containing complex assembly|
|RNA metabolic process|
|tissue development|
|protein-containing complex subunit organization|
|gene expression|
</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:exp365|I-BRD9 4μM R07 exp365]]|-1.82|
|[[:results:exp290|LLY-283 2.6μM R06 exp290]]|1.75|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|1.92|
|[[:results:exp111|R-DABN 8μM R03 exp111]]|2.01|
|[[:results:exp143|Phenformin 20μM R03 exp143]]|2.13|
|[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|2.17|
|[[:results:exp116|AICAR 240μM R03 exp116]]|2.38|
|[[:results:exp94|Nocodazole 0.1μM R03 exp94]]|2.44|
|[[:results:exp505|ML-792 0.2μM R08 exp505]]|2.45|
|[[:results:exp135|MS023 7μM R03 exp135]]|2.47|
|[[:results:exp134|MS023 2μM R03 exp134]]|2.56|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:e:eftud1|EFTUD1]]|0.541|
|[[:human genes:u:uba5|UBA5]]|0.521|
|[[:human genes:c:c1orf27|C1orf27]]|0.496|
|[[:human genes:u:urm1|URM1]]|0.484|
|[[:human genes:e:elp2|ELP2]]|0.474|
|[[:human genes:m:mocs3|MOCS3]]|0.469|
|[[:human genes:d:dph6|DPH6]]|0.455|
|[[:human genes:u:ufsp2|UFSP2]]|0.445|
|[[:human genes:u:ufc1|UFC1]]|0.435|
|[[:human genes:c:ctu1|CTU1]]|0.431|
|[[:human genes:z:zzz3|ZZZ3]]|0.424|
|[[:human genes:s:spen|SPEN]]|0.424|
|[[:human genes:e:elp6|ELP6]]|0.419|
|[[:human genes:d:dph3|DPH3]]|0.418|
|[[:human genes:e:eif1ax|EIF1AX]]|0.418|
|[[:human genes:e:elp3|ELP3]]|0.404|
|[[:human genes:r:rpp21|RPP21]]|0.403|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 722/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|1/1|
|bile duct|28/28|
|blood|28/28|
|bone|23/26|
|breast|33/33|
|central nervous system|55/56|
|cervix|3/4|
|colorectal|17/17|
|esophagus|13/13|
|fibroblast|1/1|
|gastric|16/16|
|kidney|21/21|
|liver|20/20|
|lung|74/75|
|lymphocyte|15/16|
|ovary|24/26|
|pancreas|24/24|
|peripheral nervous system|16/16|
|plasma cell|14/15|
|prostate|0/1|
|skin|24/24|
|soft tissue|9/9|
|thyroid|2/2|
|upper aerodigestive|22/22|
|urinary tract|28/29|
|uterus|5/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 1777
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.83 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SBDS Expression in NALM6 Cells: 5.83'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>