COL6A1 [The Human Chemical-Genetic Interaction Map Project]

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======= COL6A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL6A1
  * **<color #00a2e8>Official Name</color>**: collagen type VI alpha 1 chain
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1291|1291]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P12109|P12109]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL6A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL6A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120220|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structural component of microfibrils. The basic structural unit of collagen VI is a heterotrimer of the alpha1(VI), alpha2(VI), and alpha3(VI) chains. The alpha2(VI) and alpha3(VI) chains are encoded by the COL6A2 and COL6A3 genes, respectively. The protein encoded by this gene is the alpha 1 subunit of type VI collagen (alpha1(VI) chain). Mutations in the genes that code for the collagen VI subunits result in the autosomal dominant disorder, Bethlem myopathy. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Collagen VI acts as a cell-binding protein.

<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'>
|VWA|
|Collagen|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|collagen type VI trimer|
|platelet-derived growth factor binding|
|protein heterotrimerization|
|chondrocyte morphogenesis involved in endochondral bone morphogenesis|
|chondrocyte morphogenesis|
|growth plate cartilage chondrocyte morphogenesis|
|growth plate cartilage morphogenesis|
|chondrocyte development involved in endochondral bone morphogenesis|
|growth plate cartilage chondrocyte differentiation|
|cartilage morphogenesis|
|chondrocyte differentiation involved in endochondral bone morphogenesis|
|growth plate cartilage development|
|extracellular matrix structural constituent conferring tensile strength|
|endodermal cell differentiation|
|endochondral bone growth|
|chondrocyte development|
|cartilage development involved in endochondral bone morphogenesis|
|bone growth|
|endoderm formation|
|protein trimerization|
|cellular response to amino acid stimulus|
|endochondral bone morphogenesis|
|endoderm development|
|chondrocyte differentiation|
|organ growth|
|sarcolemma|
|protein heterooligomerization|
|formation of primary germ layer|
|bone morphogenesis|
|response to amino acid|
|osteoblast differentiation|
|gastrulation|
|cartilage development|
|bone development|
|cellular response to acid chemical|
|connective tissue development|
|extracellular matrix|
|skeletal system morphogenesis|
|ossification|
|lysosomal membrane|
|endoplasmic reticulum lumen|
|extracellular matrix organization|
|response to acid chemical|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|developmental growth|
|growth|
|skeletal system development|
|protein complex oligomerization|
|cell morphogenesis involved in differentiation|
|tissue morphogenesis|
|embryonic morphogenesis|
|protein-containing complex|
|cellular response to organonitrogen compound|
|cellular response to nitrogen compound|
|cell morphogenesis|
|cellular component morphogenesis|
|anatomical structure formation involved in morphogenesis|
|cell adhesion|
|biological adhesion|
|animal organ morphogenesis|
|embryo development|
|response to organonitrogen compound|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|cellular response to endogenous stimulus|
|response to endogenous stimulus|
|response to oxygen-containing compound|
|protein-containing complex assembly|
|extracellular space|
|cell development|
|tissue development|
|protein-containing complex subunit organization|
|extracellular region|
|membrane|
</modal>
\\

 === CRISPR Data ===
<button type='default' 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'>
No hits were found.
</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: 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>**: 6906
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -4.6 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL6A1 Expression in NALM6 Cells: -4.6'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>