HBS1L [The Human Chemical-Genetic Interaction Map Project]

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======= HBS1L =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: HBS1L
  * **<color #00a2e8>Official Name</color>**: HBS1 like translational GTPase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=10767|10767]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y450|Q9Y450]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=HBS1L&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20HBS1L|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/612450|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the GTP-binding elongation factor family. It is expressed in multiple tissues with the highest expression in heart and skeletal muscle. The intergenic region of this gene and the MYB gene has been identified to be a quantitative trait locus (QTL) controlling fetal hemoglobin level, and this region influnces erythrocyte, platelet, and monocyte counts as well as erythrocyte volume and hemoglobin content. DNA polymorphisms at this region associate with fetal hemoglobin levels and pain crises in sickle cell disease. A single nucleotide polymorphism in exon 1 of this gene is significantly associated with severity in beta-thalassemia/Hemoglobin E. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, May 2009]. 
  * **<color #00a2e8>UniProt Summary</color>**: N/A

<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'>
|DUF1916|
|GTP EFTU|
|GTP EFTU D3|
|GTP EFTU D2|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|translation elongation factor activity|
|exonucleolytic catabolism of deadenylated mRNA|
|nuclear-transcribed mRNA catabolic process, exonucleolytic|
|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay|
|translational elongation|
|nuclear-transcribed mRNA catabolic process|
|mRNA catabolic process|
|RNA catabolic process|
|GTPase activity|
|nucleobase-containing compound catabolic process|
|translation|
|GTP binding|
|peptide biosynthetic process|
|heterocycle catabolic process|
|cellular nitrogen compound catabolic process|
|aromatic compound catabolic process|
|organic cyclic compound catabolic process|
|amide biosynthetic process|
|peptide metabolic process|
|mRNA metabolic process|
|cellular amide metabolic process|
|cellular macromolecule catabolic process|
|macromolecule catabolic process|
|organonitrogen compound biosynthetic process|
|cellular nitrogen compound biosynthetic process|
|RNA metabolic process|
|cellular macromolecule biosynthetic process|
|negative regulation of gene expression|
|macromolecule biosynthetic process|
|organic substance catabolic process|
|cellular catabolic process|
|membrane|
|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:exp19|Etoposide 1μM R00 exp19]]|1.79|
|[[:results:exp108|Vinblastine 0.2μM R03 exp108]]|1.91|
|[[:results:exp96|BI-2536 0.02μM R03 exp96]]|1.94|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:r:rbm14|RBM14]]|0.412|
|[[:human genes:m:mad1l1|MAD1L1]]|0.411|
|[[:human genes:m:mad2l1|MAD2L1]]|0.407|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/739
^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|1/33|
|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>**: 1844
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.33 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='HBS1L Expression in NALM6 Cells: 6.33'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>