A2ML1 [The Human Chemical-Genetic Interaction Map Project]

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======= A2ML1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: A2ML1
  * **<color #00a2e8>Official Name</color>**: alpha-2-macroglobulin like 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=144568|144568]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/A8K2U0|A8K2U0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=A2ML1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20A2ML1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/610627|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Is able to inhibit all four classes of proteinases by a unique 'trapping' mechanism. This protein has a peptide stretch, called the 'bait region' which contains specific cleavage sites for different proteinases. When a proteinase cleaves the bait region, a conformational change is induced in the protein which traps the proteinase. The entrapped enzyme remains active against low molecular weight substrates (activity against high molecular weight substrates is greatly reduced). Following cleavage in the bait region a thioester bond is hydrolyzed and mediates the covalent binding of the protein to the proteinase (By similarity). Displays inhibitory activity against chymotrypsin, papain, thermolysin, subtilisin A and, to a lesser extent, elastase but not trypsin. May play an important role during desquamation by inhibiting extracellular proteases. {ECO:0000250|UniProtKB:P01023, ECO:0000269|PubMed:16298998}.

<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'>
|A2M recep|
|SVA|
|A2M N 2|
|A2M comp|
|A2M N|
|Thiol-ester cl|
|A2M|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|peptidase inhibitor activity|
|serine-type endopeptidase inhibitor activity|
|negative regulation of endopeptidase activity|
|negative regulation of peptidase activity|
|negative regulation of proteolysis|
|regulation of endopeptidase activity|
|regulation of peptidase activity|
|negative regulation of hydrolase activity|
|regulation of proteolysis|
|negative regulation of catalytic activity|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|negative regulation of molecular function|
|regulation of hydrolase activity|
|extracellular space|
</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:exp485|GSK626616 14μM R08 exp485]]|-2.09|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|-1.71|
|[[:results:exp295|Pyronaridine 1μM R06 exp295]]|1.71|
|[[:results:exp319|ABT-702 5μM plus Dimethyloxaloylglycine 11μM R07 exp319]]|1.73|
|[[:results:exp27|Pimelic-diphenylamide-106 0.5μM R00 exp27]]|1.75|
|[[:results:exp307|Rapamycin 2μM plus Cyclosporin-A 3μM R07 exp307]]|1.83|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|1.89|
|[[:results:exp239|PFI-2 4μM R05 exp239]]|1.99|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:psmd1|PSMD1]]|0.429|
</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>**: 4452
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.24 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='A2ML1 Expression in NALM6 Cells: 2.24'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>