======= COL17A1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: COL17A1
  * **<color #00a2e8>Official Name</color>**: collagen type XVII 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=1308|1308]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9UMD9|Q9UMD9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL17A1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL17A1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/113811|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein complexes at the dermal-epidermal basement membrane zone that mediate adhesion of keratinocytes to the underlying membrane. Mutations in this gene are associated with both generalized atrophic benign and junctional epidermolysis bullosa. Two homotrimeric forms of type XVII collagen exist. The full length form is the transmembrane protein. A soluble form, referred to as either ectodomain or LAD-1, is generated by proteolytic processing of the full length form. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  May play a role in the integrity of hemidesmosome and the attachment of basal keratinocytes to the underlying basement membrane.

<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'>
|Collagen|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|hemidesmosome|
|hemidesmosome assembly|
|extracellular matrix structural constituent conferring tensile strength|
|cell-substrate junction assembly|
|collagen trimer|
|basement membrane|
|cell-matrix adhesion|
|extracellular matrix structural constituent|
|cell junction assembly|
|cell-cell junction|
|cell-substrate adhesion|
|cell junction organization|
|extracellular matrix|
|endoplasmic reticulum lumen|
|extracellular matrix organization|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|epidermis development|
|cell adhesion|
|biological adhesion|
|regulation of immune response|
|integral component of plasma membrane|
|extracellular space|
|regulation of immune system process|
|tissue development|
|extracellular region|
</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:exp37|Wortmannin 0.5μM R00 exp37]]|-1.98|
|[[:results:exp447|Amiloride 100μM R08 exp447]]|1.72|
</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>**: 7963
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: -2.35 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='COL17A1 Expression in NALM6 Cells: -2.35'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>