MCPH1 [The Human Chemical-Genetic Interaction Map Project]

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======= MCPH1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MCPH1
  * **<color #00a2e8>Official Name</color>**: microcephalin 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=79648|79648]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q8NEM0|Q8NEM0]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MCPH1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MCPH1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/607117|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex. {ECO:0000269|PubMed:12046007, ECO:0000269|PubMed:15199523, ECO:0000269|PubMed:15220350}.

<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'>
|BRCT|
|Microcephalin|
|PTCB-BRCT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of chromosome condensation|
|mitotic cell cycle arrest|
|protein localization to microtubule organizing center|
|protein localization to centrosome|
|neuronal stem cell population maintenance|
|establishment of mitotic spindle orientation|
|establishment of mitotic spindle localization|
|protein localization to microtubule cytoskeleton|
|establishment of spindle orientation|
|protein localization to cytoskeleton|
|establishment of spindle localization|
|spindle localization|
|regulation of centrosome cycle|
|microtubule cytoskeleton organization involved in mitosis|
|cerebral cortex development|
|establishment of cell polarity|
|stem cell population maintenance|
|maintenance of cell number|
|cell cycle arrest|
|microtubule organizing center|
|pallium development|
|regulation of microtubule cytoskeleton organization|
|establishment or maintenance of cell polarity|
|bone development|
|regulation of microtubule-based process|
|telencephalon development|
|negative regulation of mitotic cell cycle|
|regulation of inflammatory response|
|regulation of chromosome organization|
|establishment of organelle localization|
|forebrain development|
|microtubule cytoskeleton organization|
|skeletal system development|
|regulation of cytoskeleton organization|
|negative regulation of cell cycle|
|organelle localization|
|mitotic cell cycle process|
|regulation of mitotic cell cycle|
|microtubule-based process|
|mitotic cell cycle|
|protein localization to organelle|
|brain development|
|regulation of cell cycle process|
|regulation of defense response|
|head development|
|negative regulation of transcription by RNA polymerase II|
|regulation of kinase activity|
|regulation of transferase activity|
|central nervous system development|
|cell cycle process|
|identical protein binding|
|regulation of response to external stimulus|
|cytoskeleton organization|
|regulation of cell cycle|
|negative regulation of transcription, DNA-templated|
|negative regulation of nucleic acid-templated transcription|
|negative regulation of RNA biosynthetic process|
|regulation of organelle organization|
|negative regulation of RNA metabolic process|
|cell cycle|
|negative regulation of cellular macromolecule biosynthetic process|
|negative regulation of nucleobase-containing compound metabolic process|
|negative regulation of macromolecule biosynthetic process|
|regulation of response to stress|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|cellular protein localization|
|regulation of phosphorylation|
|cellular macromolecule localization|
|negative regulation of gene expression|
|regulation of phosphate metabolic process|
|regulation of phosphorus metabolic process|
|establishment of localization in cell|
</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:exp97|BI-6727 0.0125μM R03 exp97]]|-1.99|
|[[:results:exp107|UMK57 0.6μM R03 exp107]]|-1.81|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:aspm|ASPM]]|0.4|
</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>**: 5953
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 5.58 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MCPH1 Expression in NALM6 Cells: 5.58'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>