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Ask your administrator if you think this is wrong. ======= COL4A1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: COL4A1 * **<color #00a2e8>Official Name</color>**: collagen type IV 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=1282|1282]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P02462|P02462]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL4A1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL4A1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120130|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: 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]. * **<color #00a2e8>UniProt Summary</color>**: 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}. <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'> |C4| |Collagen| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |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| </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>**: 3366 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -3.59 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='COL4A1 Expression in NALM6 Cells: -3.59'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2025/12/10 20:19by 127.0.0.1