======= COL4A1 =======
== Gene Information ==
* **Official Symbol**: COL4A1
* **Official Name**: collagen type IV alpha 1 chain
* **Aliases and Previous Symbols**: N/A
* **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=1282|1282]]
* **UniProt**: [[https://www.uniprot.org/uniprot/P02462|P02462]]
* **Interactions**: [[https://thebiogrid.org/search.php?search=COL4A1&organism=9606|BioGRID]]
* **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL4A1|Open PubMed]]
* **OMIM**: [[https://omim.org/entry/120130|Open OMIM]]
== Function Summary ==
* **Entrez Summary**: This gene encodes a type IV collagen alpha protein. Type IV collagen proteins are integral components of basement membranes. This gene shares a bidirectional promoter with a paralogous gene on the opposite strand. The protein consists of an amino-terminal 7S domain, a triple-helix forming collagenous domain, and a carboxy-terminal non-collagenous domain. It functions as part of a heterotrimer and interacts with other extracellular matrix components such as perlecans, proteoglycans, and laminins. In addition, proteolytic cleavage of the non-collagenous carboxy-terminal domain results in a biologically active fragment known as arresten, which has anti-angiogenic and tumor suppressor properties. Mutations in this gene cause porencephaly, cerebrovascular disease, and renal and muscular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014].
* **UniProt Summary**: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. {ECO:0000250|UniProtKB:P02463}.
|C4|
|Collagen|
|collagen type IV trimer|
|retinal blood vessel morphogenesis|
|retina vasculature morphogenesis in camera-type eye|
|collagen-activated tyrosine kinase receptor signaling pathway|
|platelet-derived growth factor binding|
|collagen-activated signaling pathway|
|retina vasculature development in camera-type eye|
|basement membrane organization|
|branching involved in blood vessel morphogenesis|
|extracellular matrix structural constituent conferring tensile strength|
|neuromuscular junction development|
|renal tubule morphogenesis|
|cellular response to amino acid stimulus|
|renal tubule development|
|basement membrane|
|response to amino acid|
|branching morphogenesis of an epithelial tube|
|extracellular matrix structural constituent|
|retina development in camera-type eye|
|morphogenesis of a branching epithelium|
|morphogenesis of a branching structure|
|cellular response to acid chemical|
|extracellular matrix|
|synapse organization|
|renal system development|
|endoplasmic reticulum lumen|
|epithelial tube morphogenesis|
|camera-type eye development|
|angiogenesis|
|urogenital system development|
|extracellular matrix organization|
|response to acid chemical|
|eye development|
|visual system development|
|collagen-containing extracellular matrix|
|sensory system development|
|extracellular structure organization|
|blood vessel morphogenesis|
|morphogenesis of an epithelium|
|blood vessel development|
|vasculature development|
|transmembrane receptor protein tyrosine kinase signaling pathway|
|cardiovascular system development|
|sensory organ development|
|tissue morphogenesis|
|cellular response to organonitrogen compound|
|tube morphogenesis|
|cellular response to nitrogen compound|
|epithelial cell differentiation|
|enzyme linked receptor protein signaling pathway|
|brain development|
|head development|
|tube development|
|circulatory system development|
|anatomical structure formation involved in morphogenesis|
|central nervous system development|
|response to organonitrogen compound|
|cellular response to oxygen-containing compound|
|response to nitrogen compound|
|epithelium development|
|cellular response to endogenous stimulus|
|response to endogenous stimulus|
|response to oxygen-containing compound|
|extracellular space|
|tissue development|
|extracellular region|
\\
=== CRISPR Data ===
No hits were found.
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**: 3366
* **Expression level (log2 read counts)**: -3.59
{{:chemogenomics:nalm6 dist.png?nolink |}}