======= SMC1A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: SMC1A
  * **<color #00a2e8>Official Name</color>**: structural maintenance of chromosomes 1A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=8243|8243]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q14683|Q14683]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=SMC1A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20SMC1A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300040|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Involved in chromosome cohesion during cell cycle and in DNA repair. Central component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. Involved in DNA repair via its interaction with BRCA1 and its related phosphorylation by ATM, or via its phosphorylation by ATR. Works as a downstream effector both in the ATM/NBS1 branch and in the ATR/MSH2 branch of S-phase checkpoint. {ECO:0000269|PubMed:11877377}.

<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'>
|SMC N|
|SMC hinge|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|mediator complex binding|
|response to DNA damage checkpoint signaling|
|negative regulation of DNA endoreduplication|
|meiotic cohesin complex|
|response to cell cycle checkpoint signaling|
|response to DNA integrity checkpoint signaling|
|regulation of DNA endoreduplication|
|cohesin complex|
|mitotic sister chromatid cohesion|
|regulation of mitotic spindle assembly|
|negative regulation of DNA-dependent DNA replication|
|mitotic spindle pole|
|regulation of spindle assembly|
|condensed nuclear chromosome|
|regulation of mitotic spindle organization|
|negative regulation of DNA replication|
|regulation of spindle organization|
|sister chromatid cohesion|
|regulation of DNA-dependent DNA replication|
|chromosome, centromeric region|
|kinetochore|
|condensed chromosome kinetochore|
|regulation of DNA replication|
|mitotic sister chromatid segregation|
|nuclear matrix|
|chromosome|
|stem cell population maintenance|
|maintenance of cell number|
|sister chromatid segregation|
|mitotic nuclear division|
|regulation of mitotic nuclear division|
|regulation of microtubule cytoskeleton organization|
|regulation of nuclear division|
|cellular response to biotic stimulus|
|nuclear chromosome segregation|
|regulation of organelle assembly|
|regulation of microtubule-based process|
|meiotic cell cycle|
|chromosome segregation|
|nuclear division|
|organelle fission|
|negative regulation of cell cycle process|
|chromatin binding|
|response to radiation|
|protein heterodimerization activity|
|cell division|
|DNA repair|
|regulation of cytoskeleton organization|
|negative regulation of cell cycle|
|mitotic cell cycle process|
|regulation of mitotic cell cycle|
|mitotic cell cycle|
|DNA metabolic process|
|regulation of cell cycle process|
|cellular response to DNA damage stimulus|
|regulation of cellular component biogenesis|
|cell cycle process|
|chromosome organization|
|response to abiotic stimulus|
|regulation of cell cycle|
|cellular response to endogenous stimulus|
|regulation of organelle organization|
|response to biotic stimulus|
|cell cycle|
|negative regulation of cellular macromolecule biosynthetic process|
|RNA binding|
|reproductive process|
|reproduction|
|negative regulation of macromolecule biosynthetic process|
|response to endogenous stimulus|
|ATP binding|
|negative regulation of cellular biosynthetic process|
|negative regulation of biosynthetic process|
|cellular response to stress|
</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:exp180|Dynasore 10μM R04 exp180]]|-3.27|
|[[:results:exp78|Pterostilbene 16μM R02 exp78]]|-2.62|
|[[:results:exp502|Milciclib 2μM R08 exp502]]|-2.14|
|[[:results:exp151|SGC0946 7μM R03 exp151]]|-2.08|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|-1.99|
|[[:results:exp189|Temozolomide 200μM R04 exp189]]|-1.97|
|[[:results:exp455|Benzoate 10000μM R08 exp455]]|-1.96|
|[[:results:exp243|S-trityl-L-cysteine 0.5μM R05 exp243]]|-1.85|
|[[:results:exp499|LY2090314 0.003μM R08 exp499]]|-1.83|
|[[:results:exp482|Fas-L 44ng/ml R08 exp482]]|-1.82|
|[[:results:exp401|SNS-032 25μM R07 exp401]]|-1.82|
|[[:results:exp269|Bisphenol A 100μM R06 exp269]]|-1.75|
|[[:results:exp279|D-Fructose 10000μM R06 exp279]]|-1.72|
|[[:results:exp347|Cyclosporin-A 0.8μM R07 exp347]]|1.7|
|[[:results:exp152|SGC2043 10μM R03 exp152]]|1.75|
|[[:results:exp97|BI-6727 0.0125μM R03 exp97]]|1.77|
|[[:results:exp341|BRD2 inhibitor II 20μM R07 exp341]]|1.84|
|[[:results:exp358|FK-506 5μM R07 exp358]]|1.88|
|[[:results:exp406|Thalidomide 20μM R07 exp406]]|1.88|
|[[:results:exp528|TGF-beta1 44ng/ml R08 exp528]]|1.98|
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|2.22|
|[[:results:exp136|MS094 2μM R03 exp136]]|2.26|
|[[:results:exp143|Phenformin 20μM R03 exp143]]|2.26|
|[[:results:exp283|Glyphosate 1000μM R06 exp283]]|2.63|
|[[:results:exp526|Sulforaphane 9μM R08 exp526 no dilution day6]]|2.7|
</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: 673/683
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|1/1|
|bile duct|28/28|
|blood|26/26|
|bone|25/25|
|breast|26/30|
|central nervous system|49/49|
|cervix|3/4|
|colorectal|17/17|
|esophagus|11/11|
|fibroblast|1/1|
|gastric|14/14|
|kidney|18/18|
|liver|18/19|
|lung|72/72|
|lymphocyte|14/14|
|ovary|25/25|
|pancreas|21/22|
|peripheral nervous system|15/15|
|plasma cell|12/12|
|prostate|1/1|
|skin|20/20|
|soft tissue|7/7|
|thyroid|2/2|
|upper aerodigestive|22/22|
|urinary tract|27/28|
|uterus|4/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 67
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 8.95 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='SMC1A Expression in NALM6 Cells: 8.95'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>