COL1A1
Summary: This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| collagen type I alpha 1 chain | MIM:120150 | Ensembl:ENSG00000108821 | HGNC:HGNC:2197 | PA35041 | 17q21.33 |
GO terms in COL1A1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0002020 | protease binding |
| MF | IBA | GO:0005201 | extracellular matrix structural constituent |
| MF | IPI | GO:0005515 | protein binding |
| MF | HDA | GO:0030020 | extracellular matrix structural constituent conferring tensile strength |
| MF | ISS | GO:0030020 | extracellular matrix structural constituent conferring tensile strength |
| MF | IDA | GO:0042802 | identical protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IDA | GO:0048407 | platelet-derived growth factor binding |
| CC | HDA | GO:0005576 | extracellular region |
| CC | TAS | GO:0005576 | extracellular region |
| CC | IBA | GO:0005584 | collagen type I trimer |
| CC | IDA | GO:0005584 | collagen type I trimer |
| CC | IMP | GO:0005584 | collagen type I trimer |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IBA | GO:0005615 | extracellular space |
| CC | IMP | GO:0005615 | extracellular space |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
| CC | IEA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0030141 | secretory granule |
| CC | HDA | GO:0031012 | extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
| CC | ISS | GO:0062023 | collagen-containing extracellular matrix |
| BP | IBA | GO:0001501 | skeletal system development |
| BP | IMP | GO:0001501 | skeletal system development |
| BP | IBA | GO:0001503 | ossification |
| BP | IBA | GO:0001568 | blood vessel development |
| BP | IMP | GO:0001568 | blood vessel development |
| BP | IEA | GO:0001649 | osteoblast differentiation |
| BP | IEA | GO:0001957 | intramembranous ossification |
| BP | IEA | GO:0001958 | endochondral ossification |
| BP | TAS | GO:0007596 | blood coagulation |
| BP | IMP | GO:0007601 | visual perception |
| BP | IMP | GO:0007605 | sensory perception of sound |
| BP | IBA | GO:0009612 | response to mechanical stimulus |
| BP | IDA | GO:0010718 | positive regulation of epithelial to mesenchymal transition |
| BP | IEA | GO:0010812 | negative regulation of cell-substrate adhesion |
| BP | IEA | GO:0015031 | protein transport |
| BP | TAS | GO:0030168 | platelet activation |
| BP | IBA | GO:0030198 | extracellular matrix organization |
| BP | TAS | GO:0030198 | extracellular matrix organization |
| BP | IMP | GO:0030199 | collagen fibril organization |
| BP | IDA | GO:0030335 | positive regulation of cell migration |
| BP | IEA | GO:0031960 | response to corticosteroid |
| BP | IEA | GO:0032355 | response to estradiol |
| BP | IMP | GO:0032964 | collagen biosynthetic process |
| BP | IDA | GO:0034504 | protein localization to nucleus |
| BP | IMP | GO:0034505 | tooth mineralization |
| BP | IBA | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway |
| BP | IEA | GO:0038063 | collagen-activated tyrosine kinase receptor signaling pathway |
| BP | IEA | GO:0042542 | response to hydrogen peroxide |
| BP | IEA | GO:0043434 | response to peptide hormone |
| BP | IBA | GO:0043588 | skin development |
| BP | IMP | GO:0043589 | skin morphogenesis |
| BP | IEA | GO:0044344 | cellular response to fibroblast growth factor stimulus |
| BP | IEA | GO:0044691 | tooth eruption |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0048706 | embryonic skeletal system development |
| BP | TAS | GO:0050776 | regulation of immune response |
| BP | TAS | GO:0050900 | leukocyte migration |
| BP | IEA | GO:0051591 | response to cAMP |
| BP | IEA | GO:0055093 | response to hyperoxia |
| BP | IEA | GO:0060325 | face morphogenesis |
| BP | IEA | GO:0060346 | bone trabecula formation |
| BP | IEA | GO:0060351 | cartilage development involved in endochondral bone morphogenesis |
| BP | IEA | GO:0070208 | protein heterotrimerization |
| BP | IEA | GO:0071230 | cellular response to amino acid stimulus |
| BP | IEA | GO:0071260 | cellular response to mechanical stimulus |
| BP | IEA | GO:0071300 | cellular response to retinoic acid |
| BP | IEA | GO:0071306 | cellular response to vitamin E |
| BP | IEA | GO:0071356 | cellular response to tumor necrosis factor |
| BP | IEA | GO:0071364 | cellular response to epidermal growth factor stimulus |
| BP | IEA | GO:0071560 | cellular response to transforming growth factor beta stimulus |
| BP | IDA | GO:0090263 | positive regulation of canonical Wnt signaling pathway |
| BP | IEA | GO:1902618 | cellular response to fluoride |
Gene expression in normal tissue: COL1A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in COL1A1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| smpdb | SMP00268 | Warfarin Action Pathway |
| smpdb | SMP00269 | Acenocoumarol Action Pathway |
| smpdb | SMP00270 | Dicumarol Action Pathway |
| smpdb | SMP00271 | Phenprocoumon Action Pathway |
| smpdb | SMP00272 | Enoxaparin Action Pathway |
| smpdb | SMP00273 | Fondaparinux Action Pathway |
| smpdb | SMP00274 | Heparin Action Pathway |
| smpdb | SMP00275 | Ardeparin Action Pathway |
| smpdb | SMP00276 | Argatroban Action Pathway |
| smpdb | SMP00277 | Bivalirudin Action Pathway |
| smpdb | SMP00278 | Lepirudin Action Pathway |
| smpdb | SMP00279 | Ximelagatran Action Pathway |
| smpdb | SMP00280 | Alteplase Action Pathway |
| smpdb | SMP00281 | Anistreplase Action Pathway |
| smpdb | SMP00282 | Streptokinase Action Pathway |
| smpdb | SMP00283 | Tenecteplase Action Pathway |
| smpdb | SMP00284 | Urokinase Action Pathway |
| smpdb | SMP00285 | Reteplase Action Pathway |
| smpdb | SMP00286 | Aminocaproic Acid Action Pathway |
| smpdb | SMP00287 | Tranexamic Acid Action Pathway |
| smpdb | SMP00288 | Aprotinin Action Pathway |
| smpdb | SMP00586 | Coagulation |
| smpdb | SMP00655 | Phenindione Action Pathway |
| smpdb | SMP00656 | Dicoumarol Action Pathway |
| wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
| wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
| wikipathways | WP306 | Focal Adhesion |
| wikipathways | WP322 | Osteoblast Signaling |
| wikipathways | WP3932 | Focal Adhesion-PI3K-Akt-mTOR-signaling pathway |
| wikipathways | WP3967 | miR-509-3p alteration of YAP1-ECM axis |
| wikipathways | WP3980 | Protein alkylation leading to liver fibrosis |
| wikipathways | WP4172 | PI3K-Akt Signaling Pathway |
| wikipathways | WP453 | Inflammatory Response Pathway |
| wikipathways | WP615 | Senescence and Autophagy in Cancer |
| pid | avb3_integrin_pathway | Integrins in angiogenesis |
| pid | il4_2pathway | IL4-mediated signaling events |
| pid | integrin1_pathway | Beta1 integrin cell surface interactions |
| pid | integrin3_pathway | Beta3 integrin cell surface interactions |
| pid | lymphangiogenesis_pathway | VEGFR3 signaling in lymphatic endothelium |
| pid | syndecan_1_pathway | Syndecan-1-mediated signaling events |
| kegg | hsa04151 | PI3K-Akt signaling pathway - Homo sapiens (human) |
| kegg | hsa04510 | Focal adhesion - Homo sapiens (human) |
| kegg | hsa04512 | ECM-receptor interaction - Homo sapiens (human) |
| kegg | hsa04611 | Platelet activation - Homo sapiens (human) |
| kegg | hsa04926 | Relaxin signaling pathway - Homo sapiens (human) |
| kegg | hsa04933 | AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human) |
| kegg | hsa04974 | Protein digestion and absorption - Homo sapiens (human) |
| kegg | hsa05146 | Amoebiasis - Homo sapiens (human) |
| kegg | hsa05165 | Human papillomavirus infection - Homo sapiens (human) |
| pharmgkb | PA154444041 | Platelet Aggregation Inhibitor Pathway, Pharmacodynamics |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-114604 | GPVI-mediated activation cascade |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1442490 | Collagen degradation |
| reactome | R-HSA-1442490 | Collagen degradation |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474228 | Degradation of the extracellular matrix |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474244 | Extracellular matrix organization |
| reactome | R-HSA-1474290 | Collagen formation |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-1650814 | Collagen biosynthesis and modifying enzymes |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| reactome | R-HSA-2022090 | Assembly of collagen fibrils and other multimeric structures |
| reactome | R-HSA-202733 | Cell surface interactions at the vascular wall |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-216083 | Integrin cell surface interactions |
| reactome | R-HSA-2173782 | Binding and Uptake of Ligands by Scavenger Receptors |
| reactome | R-HSA-2214320 | Anchoring fibril formation |
| reactome | R-HSA-2243919 | Crosslinking of collagen fibrils |
| reactome | R-HSA-3000170 | Syndecan interactions |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-3000171 | Non-integrin membrane-ECM interactions |
| reactome | R-HSA-3000178 | ECM proteoglycans |
| reactome | R-HSA-3000178 | ECM proteoglycans |
| reactome | R-HSA-3000480 | Scavenging by Class A Receptors |
| reactome | R-HSA-430116 | GP1b-IX-V activation signalling |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-6806834 | Signaling by MET |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-75892 | Platelet Adhesion to exposed collagen |
| reactome | R-HSA-75892 | Platelet Adhesion to exposed collagen |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76009 | Platelet Aggregation (Plug Formation) |
| reactome | R-HSA-8874081 | MET activates PTK2 signaling |
| reactome | R-HSA-8875878 | MET promotes cell motility |
| reactome | R-HSA-8878166 | Transcriptional regulation by RUNX2 |
| reactome | R-HSA-8940973 | RUNX2 regulates osteoblast differentiation |
| reactome | R-HSA-8941326 | RUNX2 regulates bone development |
| reactome | R-HSA-8948216 | Collagen chain trimerization |
| reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD318 | PAC-1 | 2 |
| iGMDRD213 | SMR000068650 | 3 |
| iGMDRD105 | Triptolide | 3 |
| iGMDRD6 | AM-580 | 5 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD255 | SB225002 | 4 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD552 | AZD-1775 | 3 |
| iGMDRD147 | Prima-1 | 1 |
| iGMDRD506 | Fedratinib | 4 |
| iGMDRD188 | Piperlongumine | 2 |
| iGMDRD286 | Nsc 632839 | 2 |
| iGMDRD872 | BRD7137 | 3 |
| iGMDRD79 | Gemcitabine | 1 |
| iGMDRD560 | MK-2206 | 1 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD435 | BI-2536 | 3 |
| iGMDRD466 | Chaetocin | 1 |
| iGMDRD351 | GW843682X | 4 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD446 | LY 2183240 | 5 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in COL1A1
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.