======= COL4A3 =======
== Gene Information ==
* **Official Symbol**: COL4A3
* **Official Name**: collagen type IV alpha 3 chain
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1285|1285]]
* **UniProt**: [[https://www.uniprot.org/uniprot/Q01955|Q01955]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=COL4A3&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL4A3|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/120070|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010].
* **UniProt Summary**: N/A
|C4|
|Collagen|
|collagen type IV trimer|
|endothelial cell apoptotic process|
|glomerular basement membrane development|
|collagen-activated tyrosine kinase receptor signaling pathway|
|collagen-activated signaling pathway|
|metalloendopeptidase inhibitor activity|
|epithelial cell apoptotic process|
|extracellular matrix structural constituent conferring tensile strength|
|glomerulus development|
|activation of cysteine-type endopeptidase activity involved in apoptotic process|
|basement membrane|
|negative regulation of angiogenesis|
|negative regulation of blood vessel morphogenesis|
|negative regulation of vasculature development|
|nephron development|
|integrin binding|
|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process|
|extracellular matrix structural constituent|
|response to glucose|
|response to hexose|
|sensory perception of sound|
|response to monosaccharide|
|positive regulation of cysteine-type endopeptidase activity|
|sensory perception of mechanical stimulus|
|response to carbohydrate|
|positive regulation of endopeptidase activity|
|positive regulation of peptidase activity|
|structural molecule activity|
|regulation of cysteine-type endopeptidase activity involved in apoptotic process|
|extracellular matrix|
|regulation of cysteine-type endopeptidase activity|
|negative regulation of endopeptidase activity|
|negative regulation of peptidase activity|
|kidney development|
|renal system development|
|regulation of angiogenesis|
|endoplasmic reticulum lumen|
|urogenital system development|
|regulation of vasculature development|
|extracellular matrix organization|
|negative regulation of proteolysis|
|positive regulation of proteolysis|
|collagen-containing extracellular matrix|
|extracellular structure organization|
|blood circulation|
|circulatory system process|
|regulation of endopeptidase activity|
|regulation of peptidase activity|
|negative regulation of hydrolase activity|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|cell population proliferation|
|positive regulation of apoptotic process|
|positive regulation of programmed cell death|
|negative regulation of cell population proliferation|
|intracellular membrane-bounded organelle|
|positive regulation of cell death|
|enzyme linked receptor protein signaling pathway|
|regulation of proteolysis|
|positive regulation of hydrolase activity|
|negative regulation of catalytic activity|
|apoptotic process|
|cell adhesion|
|biological adhesion|
|negative regulation of developmental process|
|sensory perception|
|endoplasmic reticulum|
|negative regulation of cellular protein metabolic process|
|programmed cell death|
|regulation of anatomical structure morphogenesis|
|cell death|
|negative regulation of protein metabolic process|
|negative regulation of molecular function|
|negative regulation of multicellular organismal process|
|regulation of hydrolase activity|
|nervous system process|
|positive regulation of catalytic activity|
|regulation of apoptotic process|
|response to oxygen-containing compound|
|regulation of programmed cell death|
|extracellular space|
|positive regulation of cellular protein metabolic process|
|regulation of cell population proliferation|
|regulation of cell death|
|positive regulation of protein metabolic process|
|positive regulation of molecular function|
|extracellular region|
|system process|
\\
=== CRISPR Data ===
^Screen^Score^
|[[:results:exp135|MS023 7μM R03 exp135]]|-1.75|
|[[:results:exp52|Ribavirin 10μM R01 exp52]]|1.73|
|[[:results:exp60|Vinblastine 0.002μM R01 exp60]]|1.73|
|[[:results:exp61|YM155 0.0002μM R01 exp61]]|1.88|
No correlation found to any other genes in chemogenomics.
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|
== Essentiality in NALM6 ==
* **Essentiality Rank**: 14636
* **Expression level (log2 read counts)**: -1.23
{{:chemogenomics:nalm6 dist.png?nolink |}}