MAML1 [The Human Chemical-Genetic Interaction Map Project]

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======= MAML1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MAML1
  * **<color #00a2e8>Official Name</color>**: mastermind like transcriptional coactivator 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9794|9794]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q92585|Q92585]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MAML1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MAML1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605424|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Enhances phosphorylation and proteolytic turnover of the NOTCH intracellular domain in the nucleus through interaction with CDK8. Binds to CREBBP/CBP which promotes nucleosome acetylation at NOTCH enhancers and activates transcription. Induces phosphorylation and localization of CREBBP to nuclear foci. Plays a role in hematopoietic development by regulating NOTCH-mediated lymphoid cell fate decisions. {ECO:0000269|PubMed:11101851, ECO:0000269|PubMed:11390662, ECO:0000269|PubMed:12050117, ECO:0000269|PubMed:15546612, ECO:0000269|PubMed:17317671}.

<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'>
|MamL-1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|cardiac septum cell differentiation|
|atrioventricular node cell differentiation|
|atrioventricular node cell development|
|MAML1-RBP-Jkappa- ICN1 complex|
|atrioventricular node development|
|cardiac pacemaker cell development|
|cardiac pacemaker cell differentiation|
|cardiac conduction system development|
|positive regulation of transcription of Notch receptor target|
|positive regulation of myotube differentiation|
|peptide antigen binding|
|myoblast differentiation|
|positive regulation of Notch signaling pathway|
|regulation of myotube differentiation|
|positive regulation of striated muscle cell differentiation|
|cardiac muscle cell development|
|cardiac cell development|
|positive regulation of muscle cell differentiation|
|cardiac muscle cell differentiation|
|regulation of striated muscle cell differentiation|
|regulation of Notch signaling pathway|
|cardiac septum development|
|cardiocyte differentiation|
|Notch signaling pathway|
|striated muscle cell development|
|muscle cell development|
|regulation of muscle cell differentiation|
|cardiac muscle tissue development|
|cardiac chamber development|
|transcription initiation from RNA polymerase II promoter|
|striated muscle cell differentiation|
|DNA-templated transcription, initiation|
|muscle cell differentiation|
|striated muscle tissue development|
|transcription coactivator activity|
|muscle tissue development|
|nuclear speck|
|protein kinase binding|
|muscle structure development|
|transcription by RNA polymerase II|
|heart development|
|transcription, DNA-templated|
|nucleic acid-templated transcription|
|RNA biosynthetic process|
|intracellular membrane-bounded organelle|
|circulatory system development|
|positive regulation of cell differentiation|
|protein phosphorylation|
|nucleobase-containing compound biosynthetic process|
|heterocycle biosynthetic process|
|aromatic compound biosynthetic process|
|positive regulation of transcription by RNA polymerase II|
|phosphorylation|
|organic cyclic compound biosynthetic process|
|positive regulation of developmental process|
|positive regulation of transcription, DNA-templated|
|cellular nitrogen compound biosynthetic process|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cell development|
|positive regulation of signal transduction|
|RNA metabolic process|
|cellular macromolecule biosynthetic process|
|positive regulation of RNA metabolic process|
|tissue development|
|macromolecule biosynthetic process|
|regulation of cell differentiation|
|positive regulation of cell communication|
|positive regulation of signaling|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|gene expression|
|positive regulation of biosynthetic process|
</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:exp333|All-trans-Retinoic-Acid 8μM R07 exp333]]|-1.86|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|-1.79|
|[[:results:exp210|LB-100 2μM R05 exp210]]|-1.79|
|[[:results:exp418|Tunicamycin 0.04μM R07 exp418]]|-1.78|
|[[:results:exp306|Rapamycin 2μM R07 exp306]]|-1.77|
|[[:results:exp420|Tunicamycin 0.04 to 0.125μM  on day4 R07 exp420]]|-1.73|
|[[:results:exp517|Quercetin 20μM R08 exp517]]|1.96|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:s:ssbp2|SSBP2]]|0.542|
|[[:human genes:i:id3|ID3]]|0.54|
|[[:human genes:z:zfx|ZFX]]|0.519|
|[[:human genes:t:taf5l|TAF5L]]|0.509|
|[[:human genes:i:irf2bp2|IRF2BP2]]|0.507|
|[[:human genes:c:ccdc101|CCDC101]]|0.501|
|[[:human genes:c:cbfb|CBFB]]|0.498|
|[[:human genes:z:znf592|ZNF592]]|0.495|
|[[:human genes:m:mef2c|MEF2C]]|0.483|
|[[:human genes:r:runx1|RUNX1]]|0.482|
|[[:human genes:c:ctdspl2|CTDSPL2]]|0.476|
|[[:human genes:t:trim33|TRIM33]]|0.473|
|[[:human genes:n:nsd1|NSD1]]|0.471|
|[[:human genes:s:sox7|SOX7]]|0.467|
|[[:human genes:f:fli1|FLI1]]|0.463|
|[[:human genes:l:ldb1|LDB1]]|0.455|
|[[:human genes:t:trmt10a|TRMT10A]]|0.454|
|[[:human genes:z:zmym2|ZMYM2]]|0.453|
|[[:human genes:z:zbtb44|ZBTB44]]|0.453|
|[[:human genes:d:dohh|DOHH]]|0.448|
|[[:human genes:a:atf7ip|ATF7IP]]|0.446|
|[[:human genes:x:xpo6|XPO6]]|0.445|
|[[:human genes:m:med23|MED23]]|0.443|
|[[:human genes:a:asxl2|ASXL2]]|0.441|
|[[:human genes:b:bap1|BAP1]]|0.435|
|[[:human genes:r:rnmt|RNMT]]|0.432|
|[[:human genes:t:tada1|TADA1]]|0.432|
|[[:human genes:m:med16|MED16]]|0.426|
|[[:human genes:r:rptor|RPTOR]]|0.425|
|[[:human genes:s:ssb|SSB]]|0.424|
|[[:human genes:s:scaf8|SCAF8]]|0.421|
|[[:human genes:e:eef1e1|EEF1E1]]|0.418|
|[[:human genes:c:cbx3|CBX3]]|0.417|
|[[:human genes:u:uhrf1|UHRF1]]|0.416|
|[[:human genes:b:brpf1|BRPF1]]|0.416|
|[[:human genes:u:usp22|USP22]]|0.411|
|[[:human genes:e:egln1|EGLN1]]|0.408|
|[[:human genes:w:wdr82|WDR82]]|0.408|
|[[:human genes:m:mllt1|MLLT1]]|0.407|
|[[:human genes:d:dpagt1|DPAGT1]]|0.406|
|[[:human genes:l:lsm11|LSM11]]|0.405|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 1/726
^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>**: 3801
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 6.37 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MAML1 Expression in NALM6 Cells: 6.37'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>