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Ask your administrator if you think this is wrong. ======= COL11A1 ======= == Gene Information == * **<color #00a2e8>Official Symbol</color>**: COL11A1 * **<color #00a2e8>Official Name</color>**: collagen type XI 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=1301|1301]] * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/P12107|P12107]] * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=COL11A1&organism=9606|BioGRID]] * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20COL11A1|Open PubMed]] * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/120280|Open OMIM]] == Function Summary == * **<color #00a2e8>Entrez Summary</color>**: This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]. * **<color #00a2e8>UniProt Summary</color>**: N/A <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| |COLFI| |Laminin G 2| </modal> <modal id='GO_terms' size='lg' title='GO Terms'> |collagen type XI trimer| |heparan sulfate binding| |tendon development| |detection of mechanical stimulus involved in sensory perception of sound| |cartilage condensation| |cell aggregation| |extracellular matrix binding| |detection of mechanical stimulus involved in sensory perception| |extracellular matrix structural constituent conferring tensile strength| |endodermal cell differentiation| |chondrocyte development| |detection of mechanical stimulus| |collagen fibril organization| |endoderm formation| |ventricular cardiac muscle tissue morphogenesis| |ventricular cardiac muscle tissue development| |cardiac muscle tissue morphogenesis| |cardiac ventricle morphogenesis| |endoderm development| |protein binding, bridging| |muscle tissue morphogenesis| |chondrocyte differentiation| |muscle organ morphogenesis| |proteoglycan metabolic process| |embryonic skeletal system morphogenesis| |inner ear morphogenesis| |formation of primary germ layer| |ear morphogenesis| |detection of external stimulus| |detection of abiotic stimulus| |embryonic skeletal system development| |cardiac chamber morphogenesis| |cardiac ventricle development| |extracellular matrix structural constituent| |sensory perception of sound| |gastrulation| |cardiac muscle tissue development| |sensory perception of mechanical stimulus| |heparin binding| |cardiac chamber development| |cartilage development| |inner ear development| |response to mechanical stimulus| |ear development| |visual perception| |connective tissue development| |sensory perception of light stimulus| |extracellular matrix| |skeletal system morphogenesis| |heart morphogenesis| |sensory organ morphogenesis| |ossification| |striated muscle tissue development| |embryonic organ morphogenesis| |muscle organ development| |muscle tissue development| |endoplasmic reticulum lumen| |extracellular matrix organization| |collagen-containing extracellular matrix| |glycoprotein metabolic process| |extracellular structure organization| |embryonic organ development| |supramolecular fiber organization| |muscle structure development| |skeletal system development| |heart development| |detection of stimulus involved in sensory perception| |sensory organ development| |tissue morphogenesis| |embryonic morphogenesis| |chordate embryonic development| |embryo development ending in birth or egg hatching| |detection of stimulus| |circulatory system development| |anatomical structure formation involved in morphogenesis| |animal organ morphogenesis| |sensory perception| |embryo development| |carbohydrate derivative metabolic process| |response to abiotic stimulus| |nervous system process| |extracellular space| |cell development| |tissue development| |protein-containing complex subunit organization| |extracellular region| |system process| </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:exp115|A-366 10μM R03 exp115]]|1.7| |[[:results:exp399|Salubrinal 20μM R07 exp399]]|1.76| |[[:results:exp243|S-trityl-L-cysteine 0.5μM R05 exp243]]|1.8| |[[:results:exp98|BI-6727 0.04μM R03 exp98]]|1.92| |[[:results:exp391|Pomalidomide 20μM R07 exp391]]|2.08| </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>**: 8297 * **<color #00a2e8>Expression level (log2 read counts)</color>**: -4.43 <button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button> <modal id='Dist_expr' size='lg' title='COL11A1 Expression in NALM6 Cells: -4.43'> {{:chemogenomics:nalm6 dist.png?nolink |}} </modal> Last modified: 2026/01/07 22:36by 127.0.0.1