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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
collagen type I alpha 1 chainMIM:120150Ensembl:ENSG00000108821HGNC:HGNC:2197PA3504117q21.33

GO terms in COL1A1


Term TypeEvidence TypeGO Term IDGO Des.
MFIPIGO:0002020protease binding
MFIBAGO:0005201extracellular matrix structural constituent
MFIPIGO:0005515protein binding
MFHDAGO:0030020extracellular matrix structural constituent conferring tensile strength
MFISSGO:0030020extracellular matrix structural constituent conferring tensile strength
MFIDAGO:0042802identical protein binding
MFIEAGO:0046872metal ion binding
MFIDAGO:0048407platelet-derived growth factor binding
CCHDAGO:0005576extracellular region
CCTASGO:0005576extracellular region
CCIBAGO:0005584collagen type I trimer
CCIDAGO:0005584collagen type I trimer
CCIMPGO:0005584collagen type I trimer
CCHDAGO:0005615extracellular space
CCIBAGO:0005615extracellular space
CCIMPGO:0005615extracellular space
CCIBAGO:0005737cytoplasm
CCTASGO:0005788endoplasmic reticulum lumen
CCIEAGO:0005794Golgi apparatus
CCIEAGO:0030141secretory granule
CCHDAGO:0031012extracellular matrix
CCHDAGO:0062023collagen-containing extracellular matrix
CCHDAGO:0062023collagen-containing extracellular matrix
CCISSGO:0062023collagen-containing extracellular matrix
BPIBAGO:0001501skeletal system development
BPIMPGO:0001501skeletal system development
BPIBAGO:0001503ossification
BPIBAGO:0001568blood vessel development
BPIMPGO:0001568blood vessel development
BPIEAGO:0001649osteoblast differentiation
BPIEAGO:0001957intramembranous ossification
BPIEAGO:0001958endochondral ossification
BPTASGO:0007596blood coagulation
BPIMPGO:0007601visual perception
BPIMPGO:0007605sensory perception of sound
BPIBAGO:0009612response to mechanical stimulus
BPIDAGO:0010718positive regulation of epithelial to mesenchymal transition
BPIEAGO:0010812negative regulation of cell-substrate adhesion
BPIEAGO:0015031protein transport
BPTASGO:0030168platelet activation
BPIBAGO:0030198extracellular matrix organization
BPTASGO:0030198extracellular matrix organization
BPIMPGO:0030199collagen fibril organization
BPIDAGO:0030335positive regulation of cell migration
BPIEAGO:0031960response to corticosteroid
BPIEAGO:0032355response to estradiol
BPIMPGO:0032964collagen biosynthetic process
BPIDAGO:0034504protein localization to nucleus
BPIMPGO:0034505tooth mineralization
BPIBAGO:0038063collagen-activated tyrosine kinase receptor signaling pathway
BPIEAGO:0038063collagen-activated tyrosine kinase receptor signaling pathway
BPIEAGO:0042542response to hydrogen peroxide
BPIEAGO:0043434response to peptide hormone
BPIBAGO:0043588skin development
BPIMPGO:0043589skin morphogenesis
BPIEAGO:0044344cellular response to fibroblast growth factor stimulus
BPIEAGO:0044691tooth eruption
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIMPGO:0048706embryonic skeletal system development
BPTASGO:0050776regulation of immune response
BPTASGO:0050900leukocyte migration
BPIEAGO:0051591response to cAMP
BPIEAGO:0055093response to hyperoxia
BPIEAGO:0060325face morphogenesis
BPIEAGO:0060346bone trabecula formation
BPIEAGO:0060351cartilage development involved in endochondral bone morphogenesis
BPIEAGO:0070208protein heterotrimerization
BPIEAGO:0071230cellular response to amino acid stimulus
BPIEAGO:0071260cellular response to mechanical stimulus
BPIEAGO:0071300cellular response to retinoic acid
BPIEAGO:0071306cellular response to vitamin E
BPIEAGO:0071356cellular response to tumor necrosis factor
BPIEAGO:0071364cellular response to epidermal growth factor stimulus
BPIEAGO:0071560cellular response to transforming growth factor beta stimulus
BPIDAGO:0090263positive regulation of canonical Wnt signaling pathway
BPIEAGO:1902618cellular response to fluoride

Gene expression in normal tissue: COL1A1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in COL1A1


DatabasePathway IDPathway Des.
smpdbSMP00268Warfarin Action Pathway
smpdbSMP00269Acenocoumarol Action Pathway
smpdbSMP00270Dicumarol Action Pathway
smpdbSMP00271Phenprocoumon Action Pathway
smpdbSMP00272Enoxaparin Action Pathway
smpdbSMP00273Fondaparinux Action Pathway
smpdbSMP00274Heparin Action Pathway
smpdbSMP00275Ardeparin Action Pathway
smpdbSMP00276Argatroban Action Pathway
smpdbSMP00277Bivalirudin Action Pathway
smpdbSMP00278Lepirudin Action Pathway
smpdbSMP00279Ximelagatran Action Pathway
smpdbSMP00280Alteplase Action Pathway
smpdbSMP00281Anistreplase Action Pathway
smpdbSMP00282Streptokinase Action Pathway
smpdbSMP00283Tenecteplase Action Pathway
smpdbSMP00284Urokinase Action Pathway
smpdbSMP00285Reteplase Action Pathway
smpdbSMP00286Aminocaproic Acid Action Pathway
smpdbSMP00287Tranexamic Acid Action Pathway
smpdbSMP00288Aprotinin Action Pathway
smpdbSMP00586Coagulation
smpdbSMP00655Phenindione Action Pathway
smpdbSMP00656Dicoumarol Action Pathway
wikipathwaysWP2002miR-targeted genes in epithelium - TarBase
wikipathwaysWP2005miR-targeted genes in muscle cell - TarBase
wikipathwaysWP306Focal Adhesion
wikipathwaysWP322Osteoblast Signaling
wikipathwaysWP3932Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
wikipathwaysWP3967miR-509-3p alteration of YAP1-ECM axis
wikipathwaysWP3980Protein alkylation leading to liver fibrosis
wikipathwaysWP4172PI3K-Akt Signaling Pathway
wikipathwaysWP453Inflammatory Response Pathway
wikipathwaysWP615Senescence and Autophagy in Cancer
pidavb3_integrin_pathwayIntegrins in angiogenesis
pidil4_2pathwayIL4-mediated signaling events
pidintegrin1_pathwayBeta1 integrin cell surface interactions
pidintegrin3_pathwayBeta3 integrin cell surface interactions
pidlymphangiogenesis_pathwayVEGFR3 signaling in lymphatic endothelium
pidsyndecan_1_pathwaySyndecan-1-mediated signaling events
kegghsa04151PI3K-Akt signaling pathway - Homo sapiens (human)
kegghsa04510Focal adhesion - Homo sapiens (human)
kegghsa04512ECM-receptor interaction - Homo sapiens (human)
kegghsa04611Platelet activation - Homo sapiens (human)
kegghsa04926Relaxin signaling pathway - Homo sapiens (human)
kegghsa04933AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human)
kegghsa04974Protein digestion and absorption - Homo sapiens (human)
kegghsa05146Amoebiasis - Homo sapiens (human)
kegghsa05165Human papillomavirus infection - Homo sapiens (human)
pharmgkbPA154444041Platelet Aggregation Inhibitor Pathway, Pharmacodynamics
reactomeR-HSA-109582Hemostasis
reactomeR-HSA-109582Hemostasis
reactomeR-HSA-114604GPVI-mediated activation cascade
reactomeR-HSA-1280218Adaptive Immune System
reactomeR-HSA-1442490Collagen degradation
reactomeR-HSA-1442490Collagen degradation
reactomeR-HSA-1474228Degradation of the extracellular matrix
reactomeR-HSA-1474228Degradation of the extracellular matrix
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474244Extracellular matrix organization
reactomeR-HSA-1474290Collagen formation
reactomeR-HSA-162582Signal Transduction
reactomeR-HSA-1650814Collagen biosynthesis and modifying enzymes
reactomeR-HSA-168256Immune System
reactomeR-HSA-198933Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
reactomeR-HSA-2022090Assembly of collagen fibrils and other multimeric structures
reactomeR-HSA-202733Cell surface interactions at the vascular wall
reactomeR-HSA-212436Generic Transcription Pathway
reactomeR-HSA-216083Integrin cell surface interactions
reactomeR-HSA-216083Integrin cell surface interactions
reactomeR-HSA-2173782Binding and Uptake of Ligands by Scavenger Receptors
reactomeR-HSA-2214320Anchoring fibril formation
reactomeR-HSA-2243919Crosslinking of collagen fibrils
reactomeR-HSA-3000170Syndecan interactions
reactomeR-HSA-3000171Non-integrin membrane-ECM interactions
reactomeR-HSA-3000171Non-integrin membrane-ECM interactions
reactomeR-HSA-3000178ECM proteoglycans
reactomeR-HSA-3000178ECM proteoglycans
reactomeR-HSA-3000480Scavenging by Class A Receptors
reactomeR-HSA-430116GP1b-IX-V activation signalling
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-6806834Signaling by MET
reactomeR-HSA-73857RNA Polymerase II Transcription
reactomeR-HSA-74160Gene expression (Transcription)
reactomeR-HSA-75892Platelet Adhesion to exposed collagen
reactomeR-HSA-75892Platelet Adhesion to exposed collagen
reactomeR-HSA-76002Platelet activation, signaling and aggregation
reactomeR-HSA-76009Platelet Aggregation (Plug Formation)
reactomeR-HSA-8874081MET activates PTK2 signaling
reactomeR-HSA-8875878MET promotes cell motility
reactomeR-HSA-8878166Transcriptional regulation by RUNX2
reactomeR-HSA-8940973RUNX2 regulates osteoblast differentiation
reactomeR-HSA-8941326RUNX2 regulates bone development
reactomeR-HSA-8948216Collagen chain trimerization
reactomeR-HSA-9006934Signaling by Receptor Tyrosine Kinases

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD318PAC-12
iGMDRD213SMR0000686503
iGMDRD105Triptolide3
iGMDRD6AM-5805
iGMDRD434BMS-5369243
iGMDRD255SB2250024
iGMDRD137Indisulam2
iGMDRD552AZD-17753
iGMDRD147Prima-11
iGMDRD506Fedratinib4
iGMDRD188Piperlongumine2
iGMDRD286Nsc 6328392
iGMDRD872BRD71373
iGMDRD79Gemcitabine1
iGMDRD560MK-22061
iGMDRD424Tamatinib2
iGMDRD634SCHEMBL26080412
iGMDRD435BI-25363
iGMDRD466Chaetocin1
iGMDRD351GW843682X4
iGMDRD61Kinetin riboside4
iGMDRD446LY 21832405

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in COL1A1

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