COL3A1
Summary: This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. 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 III alpha 1 chain | MIM:120180 | Ensembl:ENSG00000168542 | HGNC:HGNC:2201 | PA26716 | 2q32.2 |
Gene Categories:
DRUGGABLE GENOMEGO terms in COL3A1
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | HDA | GO:0005576 | extracellular region |
CC | TAS | GO:0005576 | extracellular region |
CC | IBA | GO:0005586 | collagen type III trimer |
CC | IDA | GO:0005586 | collagen type III trimer |
CC | IMP | GO:0005586 | collagen type III trimer |
CC | NAS | GO:0005586 | collagen type III trimer |
CC | IBA | GO:0005615 | extracellular space |
CC | IDA | GO:0005615 | extracellular space |
CC | NAS | GO:0005615 | extracellular space |
CC | TAS | GO:0005788 | endoplasmic reticulum lumen |
CC | IMP | GO:0031012 | extracellular matrix |
CC | HDA | GO:0062023 | collagen-containing extracellular matrix |
CC | TAS | GO:0062023 | collagen-containing extracellular matrix |
BP | IEA | GO:0001501 | skeletal system development |
BP | IDA | GO:0007160 | cell-matrix adhesion |
BP | IDA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
BP | IMP | GO:0007229 | integrin-mediated signaling pathway |
BP | IMP | GO:0007507 | heart development |
BP | IEA | GO:0007568 | aging |
BP | IDA | GO:0009314 | response to radiation |
BP | IEA | GO:0009612 | response to mechanical stimulus |
BP | IDA | GO:0018149 | peptide cross-linking |
BP | ISS | GO:0021987 | cerebral cortex development |
BP | NAS | 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 | NAS | GO:0030199 | collagen fibril organization |
BP | IDA | GO:0034097 | response to cytokine |
BP | ISS | GO:0035025 | positive regulation of Rho protein signal transduction |
BP | IDA | GO:0042060 | wound healing |
BP | NAS | GO:0042060 | wound healing |
BP | IMP | GO:0043588 | skin development |
BP | IEA | GO:0048565 | digestive tract development |
BP | TAS | GO:0050776 | regulation of immune response |
BP | IMP | GO:0050777 | negative regulation of immune response |
BP | IEA | GO:0060414 | aorta smooth muscle tissue morphogenesis |
BP | IEA | GO:0071230 | cellular response to amino acid stimulus |
BP | IMP | GO:0097435 | supramolecular fiber organization |
BP | ISS | GO:2001223 | negative regulation of neuron migration |
MF | IPI | GO:0002020 | protease binding |
MF | IMP | GO:0005178 | integrin binding |
MF | NAS | GO:0005178 | integrin binding |
MF | IBA | GO:0005201 | extracellular matrix structural constituent |
MF | IMP | GO:0005201 | extracellular matrix structural constituent |
MF | IPI | GO:0005515 | protein binding |
MF | HDA | GO:0030020 | extracellular matrix structural constituent conferring tensile strength |
MF | IEA | GO:0046332 | SMAD binding |
MF | IEA | GO:0046872 | metal ion binding |
MF | IDA | GO:0048407 | platelet-derived growth factor binding |
Gene expression in normal tissue: COL3A1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in COL3A1
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1266738 | Developmental Biology |
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-186797 | Signaling by PDGF |
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-216083 | Integrin cell surface interactions |
reactome | R-HSA-2173782 | Binding and Uptake of Ligands by Scavenger Receptors |
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-375165 | NCAM signaling for neurite out-growth |
reactome | R-HSA-419037 | NCAM1 interactions |
reactome | R-HSA-422475 | Axon guidance |
reactome | R-HSA-5653656 | Vesicle-mediated transport |
reactome | R-HSA-6806834 | Signaling by MET |
reactome | R-HSA-8874081 | MET activates PTK2 signaling |
reactome | R-HSA-8875878 | MET promotes cell motility |
reactome | R-HSA-8948216 | Collagen chain trimerization |
reactome | R-HSA-9006934 | Signaling by Receptor Tyrosine Kinases |
wikipathways | WP2002 | miR-targeted genes in epithelium - TarBase |
wikipathways | WP2005 | miR-targeted genes in muscle cell - TarBase |
wikipathways | WP2911 | miRNA targets in ECM and membrane receptors |
wikipathways | WP306 | Focal Adhesion |
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 | WP453 | Inflammatory Response Pathway |
wikipathways | WP615 | Senescence and Autophagy in Cancer |
pharmgkb | PA154444041 | Platelet Aggregation Inhibitor Pathway, Pharmacodynamics |
pid | avb3_integrin_pathway | Integrins in angiogenesis |
pid | endothelinpathway | Endothelins |
pid | integrin1_pathway | Beta1 integrin cell surface interactions |
pid | syndecan_1_pathway | Syndecan-1-mediated signaling events |
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) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD433 | Lexibulin | 6 |
iGMDRD599 | Salermide | 5 |
iGMDRD420 | Leucascandrolide A | 3 |
iGMDRD1008 | SR-II-138A | 2 |
iGMDRD772 | BRD4770 | 2 |
iGMDRD779 | PRL-3 Inhibitor I | 1 |
iGMDRD546 | BMS-754807 | 2 |
iGMDRD494 | Neopeltolide | 4 |
iGMDRD718 | Pyrvinium pamoate | 1 |
iGMDRD193 | Fqi1 | 1 |
iGMDRD466 | Chaetocin | 1 |
iGMDRD394 | BX-795 | 3 |
iGMDRD359 | OSW-1 | 2 |
iGMDRD474 | Avrainvillamide | 3 |
iGMDRD138 | PX 12 | 5 |
iGMDRD255 | SB225002 | 1 |
iGMDRD782 | DC-45-A2 | 5 |
iGMDRD226 | ML006 | 2 |
iGMDRD885 | Compound 110 | 2 |
iGMDRD187 | BRD9876 | 2 |
iGMDRD188 | Piperlongumine | 2 |
iGMDRD399 | Selumetinib | 2 |
iGMDRD577 | BIX01294 | 1 |
iGMDRD562 | Navitoclax | 2 |
iGMDRD64 | Parbendazole | 1 |
iGMDRD524 | ISX-9 | 2 |
iGMDRD451 | Serdemetan | 2 |
iGMDRD330 | BRD4132 | 1 |
iGMDRD248 | BRD4354 | 3 |
iGMDRD116 | CD437 | 1 |
iGMDRD523 | Cyanoquinoline, 11 | 2 |
iGMDRD405 | PIK-75 | 3 |
iGMDRD177 | Teniposide | 3 |
iGMDRD154 | NSC23766 | 4 |
iGMDRD202 | Curcumin | 6 |
iGMDRD158 | NSC141540 | 3 |
iGMDRD105 | Triptolide | 1 |
iGMDRD434 | BMS-536924 | 2 |
iGMDRD481 | Dactolisib | 2 |
iGMDRD267 | Oligomycin A | 1 |
iGMDRD77 | Itraconazole | 2 |
iGMDRD414 | MST-312 | 5 |
iGMDRD329 | Merck60 | 3 |
iGMDRD366 | PI-103 | 1 |
iGMDRD505 | Pevonedistat | 5 |
iGMDRD246 | NPC26 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in COL3A1