NIPBL [The Human Chemical-Genetic Interaction Map Project]

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======= NIPBL =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: NIPBL
  * **<color #00a2e8>Official Name</color>**: NIPBL cohesin loading factor
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=25836|25836]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q6KC79|Q6KC79]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=NIPBL&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20NIPBL|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/608667|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Plays an important role in the loading of the cohesin complex on to DNA. Forms a heterodimeric complex (also known as cohesin loading complex) with MAU2/SCC4 which mediates the loading of the cohesin complex onto chromatin (PubMed:22628566, PubMed:28914604). Plays a role in cohesin loading at sites of DNA damage. Its recruitement to double-strand breaks (DSBs) sites occurs in a CBX3-, RNF8- and RNF168-dependent manner whereas its recruitement to UV irradiation-induced DNA damage sites occurs in a ATM-, ATR-, RNF8- and RNF168-dependent manner (PubMed:28167679). Along with ZNF609, promotes cortical neuron migration during brain development by regulating the transcription of crucial genes in this process. Preferentially binds promoters containing paused RNA polymerase II. Up-regulates the expression of SEMA3A, NRP1, PLXND1 and GABBR2 genes, among others (By similarity). {ECO:0000250|UniProtKB:Q6KCD5, ECO:0000269|PubMed:22628566, ECO:0000269|PubMed:28167679, ECO:0000269|PubMed:28914604}.

<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'>
|Nipped-B C|
|Cohesin HEAT|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulation of mitotic cohesin loading|
|positive regulation of mitotic cohesin loading|
|rDNA condensation|
|positive regulation of protein localization to chromatin|
|positive regulation of cohesin loading|
|external genitalia morphogenesis|
|establishment of mitotic sister chromatid cohesion|
|Scc2-Scc4 cohesin loading complex|
|cohesin loading|
|SMC loading complex|
|gall bladder development|
|replication-born double-strand break repair via sister chromatid exchange|
|gene looping|
|maintenance of mitotic sister chromatid cohesion|
|dsDNA loop formation|
|maintenance of sister chromatid cohesion|
|transcriptional activation by promoter-enhancer looping|
|regulation of cohesin loading|
|mediator complex binding|
|uterus morphogenesis|
|chromo shadow domain binding|
|regulation of protein localization to chromatin|
|establishment of sister chromatid cohesion|
|establishment of protein localization to chromatin|
|positive regulation of sister chromatid cohesion|
|cellular response to X-ray|
|embryonic viscerocranium morphogenesis|
|genitalia morphogenesis|
|mitotic sister chromatid cohesion|
|establishment of protein localization to chromosome|
|positive regulation of neuron migration|
|mitotic chromosome condensation|
|positive regulation of mitotic sister chromatid segregation|
|positive regulation of histone deacetylation|
|embryonic digestive tract morphogenesis|
|uterus development|
|regulation of sister chromatid cohesion|
|positive regulation of protein deacetylation|
|protein localization to chromatin|
|integrator complex|
|nuclear chromosome|
|regulation of hair cycle|
|positive regulation of chromosome segregation|
|regulation of histone deacetylation|
|response to X-ray|
|positive regulation of multicellular organism growth|
|face morphogenesis|
|embryonic forelimb morphogenesis|
|embryonic digestive tract development|
|head morphogenesis|
|forelimb morphogenesis|
|regulation of neuron migration|
|regulation of protein deacetylation|
|chromosome condensation|
|body morphogenesis|
|embryonic cranial skeleton morphogenesis|
|genitalia development|
|digestive tract morphogenesis|
|face development|
|sister chromatid cohesion|
|positive regulation of mitotic nuclear division|
|positive regulation of DNA binding|
|protein localization to chromosome|
|cranial skeletal system development|
|positive regulation of nuclear division|
|regulation of multicellular organism growth|
|regulation of mitotic sister chromatid segregation|
|cellular response to ionizing radiation|
|outflow tract morphogenesis|
|regulation of sister chromatid segregation|
|metanephros development|
|positive regulation of ossification|
|positive regulation of histone modification|
|embryonic skeletal system morphogenesis|
|double-strand break repair via homologous recombination|
|recombinational repair|
|regulation of chromosome segregation|
|positive regulation of chromatin organization|
|fat cell differentiation|
|protein N-terminus binding|
|mitotic sister chromatid segregation|
|histone deacetylase binding|
|chromatin|
|ear morphogenesis|
|embryonic limb morphogenesis|
|regulation of DNA binding|
|embryonic appendage morphogenesis|
|embryonic skeletal system development|
|regulation of embryonic development|
|hepaticobiliary system development|
|digestive tract development|
|stem cell population maintenance|
|maintenance of cell number|
|sister chromatid segregation|
|digestive system development|
|regulation of histone modification|
|sensory perception of sound|
|mitotic nuclear division|
|eye morphogenesis|
|response to ionizing radiation|
|appendage morphogenesis|
|limb morphogenesis|
|positive regulation of mitotic cell cycle|
|sensory perception of mechanical stimulus|
|regulation of mitotic nuclear division|
|positive regulation of developmental growth|
|cellular response to radiation|
|positive regulation of chromosome organization|
|positive regulation of binding|
|DNA packaging|
|appendage development|
|double-strand break repair|
|limb development|
|regulation of chromatin organization|
|protein C-terminus binding|
|regulation of ossification|
|regulation of nuclear division|
|nuclear chromosome segregation|
|ear development|
|DNA recombination|
|nuclear chromatin|
|skeletal system morphogenesis|
|heart morphogenesis|
|sensory organ morphogenesis|
|positive regulation of growth|
|sex differentiation|
|kidney development|
|chromosome segregation|
|renal system development|
|nuclear division|
|positive regulation of cell cycle process|
|embryonic organ morphogenesis|
|DNA conformation change|
|cognition|
|organelle fission|
|cellular response to abiotic stimulus|
|cellular response to environmental stimulus|
|urogenital system development|
|positive regulation of cellular protein localization|
|regulation of developmental growth|
|regulation of chromosome organization|
|eye development|
|visual system development|
|sensory system development|
|positive regulation of cell cycle|
|regulation of binding|
|developmental growth|
|growth|
|chromatin binding|
|reproductive structure development|
|reproductive system development|
|establishment of protein localization to organelle|
|embryonic organ development|
|response to radiation|
|positive regulation of neurogenesis|
|skeletal system development|
|positive regulation of cell migration|
|DNA repair|
|positive regulation of cell motility|
|heart development|
|positive regulation of nervous system development|
|positive regulation of cellular component movement|
|regulation of cellular protein localization|
|positive regulation of cell development|
|sensory organ development|
|positive regulation of locomotion|
|embryonic morphogenesis|
|mitotic cell cycle process|
|positive regulation of organelle organization|
|regulation of mitotic cell cycle|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|tube morphogenesis|
|developmental process involved in reproduction|
|regulation of growth|
|mitotic cell cycle|
|chromatin organization|
|protein localization to organelle|
|brain development|
|DNA metabolic process|
|regulation of cell cycle process|
|cellular response to DNA damage stimulus|
|head development|
|regulation of neurogenesis|
|tube development|
|regulation of cell migration|
|negative regulation of transcription by RNA polymerase II|
|circulatory system development|
|regulation of cell motility|
|regulation of cellular localization|
|regulation of nervous system development|
|regulation of cell development|
|animal organ morphogenesis|
|positive regulation of cell differentiation|
|sensory perception|
|embryo development|
|central nervous system development|
|regulation of locomotion|
|regulation of cellular component movement|
|cell cycle process|
|regulation of protein localization|
|chromosome organization|
|response to abiotic stimulus|
|regulation of cell cycle|
|negative regulation of transcription, DNA-templated|
|positive regulation of cellular component organization|
|positive regulation of transcription by RNA polymerase II|
|positive regulation of protein modification process|
|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|
|positive regulation of developmental process|
|nervous system process|
|negative regulation of cellular macromolecule biosynthetic process|
|reproductive process|
|reproduction|
|negative regulation of nucleobase-containing compound metabolic process|
|negative regulation of macromolecule biosynthetic process|
|negative regulation of cellular biosynthetic process|
|generation of neurons|
|positive regulation of transcription, DNA-templated|
|negative regulation of biosynthetic process|
|cellular protein localization|
|cellular macromolecule localization|
|positive regulation of cellular protein metabolic process|
|establishment of protein localization|
|neurogenesis|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cellular response to stress|
|positive regulation of protein metabolic process|
|negative regulation of gene expression|
|positive regulation of RNA metabolic process|
|positive regulation of multicellular organismal process|
|positive regulation of molecular function|
|regulation of cell differentiation|
|regulation of protein modification process|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|system process|
|positive regulation of cellular biosynthetic process|
|positive regulation of 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:exp211|AICAR 240μM R05 exp211]]|-2.27|
|[[:results:exp19|Etoposide 1μM R00 exp19]]|-2.14|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|-1.98|
|[[:results:exp382|Palbociclib 1μM R07 exp382]]|-1.76|
|[[:results:exp481|Ethambutol 25μM R08 exp481]]|1.7|
|[[:results:exp260|ABT-702 0.1μM R06 exp260]]|1.73|
|[[:results:exp458|Bisphenol S 100μM R08 exp458]]|1.78|
|[[:results:exp473|Cincreasin 100μM R08 exp473]]|1.79|
|[[:results:exp520|Rucaparib 6.5μM R08 exp520]]|1.79|
|[[:results:exp101|Nicotinamide 1000μM R03 exp101]]|1.8|
|[[:results:exp58|UM131593 0.1μM R01 exp58]]|1.81|
|[[:results:exp136|MS094 2μM R03 exp136]]|1.86|
|[[:results:exp457|Bisphenol F 50μM R08 exp457]]|1.88|
|[[:results:exp152|SGC2043 10μM R03 exp152]]|1.89|
|[[:results:exp176|Apcin 50 to 100μM on day4 R04 exp176]]|1.9|
|[[:results:exp494|Isoniazid 100μM R08 exp494]]|1.95|
|[[:results:exp426|FBS-Wisent 0.1 R07 exp426]]|2.01|
|[[:results:exp526|Sulforaphane 9μM R08 exp526 no dilution day6]]|2.04|
|[[:results:exp430|Rifampicin 30μM R08 exp430]]|2.11|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:a:atp6v1b2|ATP6V1B2]]|0.483|
|[[:human genes:p:psmb4|PSMB4]]|0.448|
|[[:human genes:a:acsf2|ACSF2]]|0.447|
|[[:human genes:a:atp6v1a|ATP6V1A]]|0.444|
|[[:human genes:t:tfip11|TFIP11]]|0.443|
|[[:human genes:u:utp3|UTP3]]|0.433|
|[[:human genes:u:usp5|USP5]]|0.425|
|[[:human genes:r:rps19bp1|RPS19BP1]]|0.422|
|[[:human genes:c:cep192|CEP192]]|0.416|
|[[:human genes:i:ik|IK]]|0.415|
|[[:human genes:t:tceb3c|TCEB3C]]|0.415|
|[[:human genes:n:nup153|NUP153]]|0.413|
|[[:human genes:a:atp6v1c1|ATP6V1C1]]|0.412|
|[[:human genes:p:pola2|POLA2]]|0.411|
|[[:human genes:s:supt5h|SUPT5H]]|0.41|
|[[:human genes:c:copg1|COPG1]]|0.407|
|[[:human genes:v:vps54|VPS54]]|0.404|
|[[:human genes:r:rad51|RAD51]]|0.401|
|[[:human genes:a:ankle1|ANKLE1]]|0.401|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 24/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|2/28|
|bone|2/25|
|breast|0/33|
|central nervous system|3/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/15|
|kidney|1/21|
|liver|1/20|
|lung|0/75|
|lymphocyte|0/14|
|ovary|1/26|
|pancreas|1/24|
|peripheral nervous system|1/16|
|plasma cell|2/15|
|prostate|1/1|
|skin|2/24|
|soft tissue|0/7|
|thyroid|1/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 690
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.26 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='NIPBL Expression in NALM6 Cells: 7.26'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>