ASPH [The Human Chemical-Genetic Interaction Map Project]

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======= ASPH =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: ASPH
  * **<color #00a2e8>Official Name</color>**: aspartate beta-hydroxylase
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=444|444]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q12797|Q12797]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=ASPH&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20ASPH|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/600582|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene is thought to play an important role in calcium homeostasis. The gene is expressed from two promoters and undergoes extensive alternative splicing. The encoded set of proteins share varying amounts of overlap near their N-termini but have substantial variations in their C-terminal domains resulting in distinct functional properties. The longest isoforms (a and f) include a C-terminal Aspartyl/Asparaginyl beta-hydroxylase domain that hydroxylates aspartic acid or asparagine residues in the epidermal growth factor (EGF)-like domains of some proteins, including protein C, coagulation factors VII, IX, and X, and the complement factors C1R and C1S. Other isoforms differ primarily in the C-terminal sequence and lack the hydroxylase domain, and some have been localized to the endoplasmic and sarcoplasmic reticulum. Some of these isoforms are found in complexes with calsequestrin, triadin, and the ryanodine receptor, and have been shown to regulate calcium release from the sarcoplasmic reticulum. Some isoforms have been implicated in metastasis. [provided by RefSeq, Sep 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'>
|Asp-B-Hydro N|
|Asp Arg Hydrox|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|peptidyl-aspartic acid 3-dioxygenase activity|
|peptide-aspartate beta-dioxygenase activity|
|peptidyl-aspartic acid hydroxylation|
|peptidyl-aspartic acid modification|
|cortical endoplasmic reticulum|
|activation of cysteine-type endopeptidase activity|
|protein hydroxylation|
|sarcoplasmic reticulum membrane|
|face morphogenesis|
|head morphogenesis|
|zymogen activation|
|body morphogenesis|
|structural constituent of muscle|
|face development|
|regulation of cardiac conduction|
|electron transfer activity|
|regulation of protein depolymerization|
|roof of mouth development|
|regulation of protein complex disassembly|
|limb morphogenesis|
|appendage morphogenesis|
|positive regulation of cysteine-type endopeptidase activity|
|protein processing|
|positive regulation of endopeptidase activity|
|limb development|
|appendage development|
|electron transport chain|
|structural molecule activity|
|positive regulation of peptidase activity|
|protein maturation|
|regulation of cysteine-type endopeptidase activity|
|regulation of heart contraction|
|muscle contraction|
|regulation of protein stability|
|regulation of blood circulation|
|muscle system process|
|positive regulation of proteolysis|
|regulation of endopeptidase activity|
|generation of precursor metabolites and energy|
|pattern specification process|
|regulation of peptidase activity|
|regulation of system process|
|negative regulation of cell population proliferation|
|calcium ion binding|
|regulation of proteolysis|
|positive regulation of hydrolase activity|
|head development|
|peptidyl-amino acid modification|
|endoplasmic reticulum membrane|
|ion transmembrane transport|
|oxidation-reduction process|
|endoplasmic reticulum|
|proteolysis|
|transmembrane transport|
|regulation of hydrolase activity|
|ion transport|
|positive regulation of catalytic activity|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
|system process|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' 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'>
^Screen^Score^
|[[:results:exp476|Dihydrosphingosine 8μM R08 exp476]]|-1.84|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|-1.82|
|[[:results:exp508|NN-Dimethylsphingosine 2.5μM R08 exp508]]|-1.75|
|[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|-1.75|
|[[:results:exp486|Heregulin-B 44ng/ml R08 exp486]]|1.75|
</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>**: 16967
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.58 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='ASPH Expression in NALM6 Cells: 2.58'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>