COL7A1 [The Human Chemical-Genetic Interaction Map Project]

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======= COL7A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL7A1
  * **<color #00a2e8>Official Name</color>**: collagen type VII 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=1294|1294]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q02388|Q02388]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL7A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL7A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120120|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an acquired form of this disease can result from an autoimmune response made to type VII collagen. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Stratified squamous epithelial basement membrane protein that forms anchoring fibrils which may contribute to epithelial basement membrane organization and adherence by interacting with extracellular matrix (ECM) proteins such as type IV collagen.

<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'>
|fn3|
|Collagen|
|Kunitz BPTI|
|VWA|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|collagen type VII trimer|
|chondrocyte morphogenesis|
|chondrocyte morphogenesis involved in endochondral bone 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|
|COPII-coated ER to Golgi transport vesicle|
|chondrocyte development|
|cartilage development involved in endochondral bone morphogenesis|
|bone growth|
|endoderm formation|
|vesicle targeting, rough ER to cis-Golgi|
|COPII vesicle coating|
|vesicle coating|
|COPII-coated vesicle budding|
|vesicle targeting, to, from or within Golgi|
|endoplasmic reticulum-Golgi intermediate compartment membrane|
|endochondral bone morphogenesis|
|endoderm development|
|Golgi vesicle budding|
|chondrocyte differentiation|
|basement membrane|
|vesicle targeting|
|serine-type endopeptidase inhibitor activity|
|vesicle budding from membrane|
|organ growth|
|formation of primary germ layer|
|bone morphogenesis|
|gastrulation|
|cartilage development|
|establishment of vesicle localization|
|vesicle localization|
|bone development|
|endoplasmic reticulum to Golgi vesicle-mediated transport|
|connective tissue development|
|extracellular matrix|
|skeletal system morphogenesis|
|negative regulation of endopeptidase activity|
|negative regulation of peptidase activity|
|vesicle organization|
|endoplasmic reticulum lumen|
|extracellular matrix organization|
|negative regulation of proteolysis|
|establishment of organelle localization|
|collagen-containing extracellular matrix|
|Golgi vesicle transport|
|extracellular structure organization|
|developmental growth|
|growth|
|epidermis development|
|regulation of endopeptidase activity|
|regulation of peptidase activity|
|negative regulation of hydrolase activity|
|skeletal system development|
|cell morphogenesis involved in differentiation|
|tissue morphogenesis|
|embryonic morphogenesis|
|organelle localization|
|Golgi membrane|
|cell morphogenesis|
|regulation of proteolysis|
|negative regulation of catalytic activity|
|cellular component morphogenesis|
|membrane organization|
|anatomical structure formation involved in morphogenesis|
|cell adhesion|
|biological adhesion|
|animal organ morphogenesis|
|embryo development|
|negative regulation of cellular protein metabolic process|
|negative regulation of protein metabolic process|
|negative regulation of molecular function|
|regulation of hydrolase activity|
|intracellular transport|
|protein-containing complex assembly|
|extracellular space|
|cell development|
|tissue development|
|establishment of localization in cell|
|protein-containing complex subunit organization|
|extracellular region|
|vesicle-mediated transport|
</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>**: 3456
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 2.75 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL7A1 Expression in NALM6 Cells: 2.75'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>