Version 5.4
Homo sapiens Gene: COL1A1
Summary
InnateDB Gene IDBG-58238.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL1A1
Gene Name collagen, type I, alpha 1
Synonyms OI4
Species Homo sapiens
Ensembl Gene ENSG00000108821
Encoded Proteins
IDBP-58240
collagen, type I, alpha 1
IDBP-758035
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:50183289-50201632
Strand Reverse strand
Band q21.33
Transcripts
ENST00000225964 ENSP00000225964
ENST00000510710
ENST00000486572
ENST00000511732
ENST00000494334
ENST00000476387
ENST00000504289
ENST00000463440
ENST00000471344
ENST00000485870
ENST00000495677
ENST00000474644
ENST00000507689 ENSP00000460459
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 50 [view]
Protein-Protein 41 [view]
Protein-DNA 8 [view]
Protein-RNA 1 [view]
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0001568 blood vessel development
GO:0001649 osteoblast differentiation
GO:0001957 intramembranous ossification
GO:0001958 endochondral ossification
GO:0007584 response to nutrient
GO:0007596 blood coagulation
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0009612 response to mechanical stimulus
GO:0010718 positive regulation of epithelial to mesenchymal transition
GO:0010812 negative regulation of cell-substrate adhesion
GO:0015031 protein transport
GO:0022617 extracellular matrix disassembly
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030335 positive regulation of cell migration
GO:0030574 collagen catabolic process
GO:0031667 response to nutrient levels
GO:0031960 response to corticosteroid
GO:0032355 response to estradiol
GO:0032964 collagen biosynthetic process
GO:0034504 protein localization to nucleus
GO:0034505 tooth mineralization
GO:0042060 wound healing
GO:0042493 response to drug
GO:0042542 response to hydrogen peroxide
GO:0043434 response to peptide hormone
GO:0043588 skin development
GO:0043589 skin morphogenesis
GO:0044344 cellular response to fibroblast growth factor stimulus
GO:0044691 tooth eruption
GO:0045893 positive regulation of transcription, DNA-templated
GO:0048545 response to steroid hormone
GO:0048705 skeletal system morphogenesis
GO:0048706 embryonic skeletal system development
GO:0050900 leukocyte migration
GO:0051591 response to cAMP
GO:0055093 response to hyperoxia
GO:0060325 face morphogenesis
GO:0060346 bone trabecula formation
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0070208 protein heterotrimerization
GO:0071230 cellular response to amino acid stimulus
GO:0071260 cellular response to mechanical stimulus
GO:0071300 cellular response to retinoic acid
GO:0071306 cellular response to vitamin E
GO:0071356 cellular response to tumor necrosis factor
GO:0071364 cellular response to epidermal growth factor stimulus
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1902617 response to fluoride
GO:1902618 cellular response to fluoride
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005581 collagen trimer
GO:0005584 collagen type I
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005794 Golgi apparatus
GO:0030141 secretory granule
GO:0031012 extracellular matrix
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000001506
View Gene Order
ENSBTAG00000013103
Not yet available
Pathways
NETPATH
REACTOME
REACT_12051
Cell surface interactions at the vascular wall pathway
REACT_1230
Platelet Adhesion to exposed collagen pathway
REACT_1695
GPVI-mediated activation cascade pathway
REACT_13552
Integrin cell surface interactions pathway
REACT_150268
Anchoring fibril formation pathway
REACT_150206
Crosslinking of collagen fibrils pathway
REACT_150180
Assembly of collagen fibrils and other multimeric structures pathway
REACT_121139
Collagen biosynthesis and modifying enzymes pathway
REACT_150401
Collagen degradation pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
REACT_163942
Syndecan interactions pathway
REACT_798
Platelet activation, signaling and aggregation pathway
REACT_160300
Binding and Uptake of Ligands by Scavenger Receptors pathway
REACT_163699
Scavenging by Class A Receptors pathway
REACT_163906
ECM proteoglycans pathway
REACT_163874
Non-integrin membrane-ECM interactions pathway
REACT_120729
Collagen formation pathway
REACT_604
Hemostasis pathway
KEGG
hsa04512
ECM-receptor interaction pathway
hsa04510
Focal adhesion pathway
hsa05146
Amoebiasis pathway
hsa04974
Protein digestion and absorption pathway
INOH
INOH website
Integrin signaling pathway pathway
PID NCI
integrin1_pathway
Beta1 integrin cell surface interactions
lymphangiogenesis_pathway
VEGFR3 signaling in lymphatic endothelium
il4_2pathway
IL4-mediated signaling events
integrin3_pathway
Beta3 integrin cell surface interactions
Cross-References
SwissProt P02452
TrEMBL D3DTX7 Q6LAN8 Q9UMA6
UniProt Splice Variant
Entrez Gene 1277
UniGene Hs.172928 Hs.600888 Hs.743746
RefSeq NM_000088
HUGO HGNC:2197
OMIM 120150
CCDS CCDS11561
HPRD 00362
IMGT
EMBL AB209597 AF017178 BC036531 CH471109 J00110 J00111 J00112 J00113 J02829 J03559 K01228 K03179 L47667 M10627 M11162 M20789 M23213 M32798 M36546 M55998 S58915 S64596 X00820 X06269 X07884 X98705 Z74615
GenPept AAA51847 AAA51992 AAA51993 AAA51995 AAA52036 AAA52049 AAA52052 AAA52289 AAA52290 AAA52291 AAA60150 AAA75386 AAB26324 AAB27856 AAB59363 AAB59373 AAB59576 AAB94054 AAH36531 AAN86574 BAD92834 CAA25394 CAA29605 CAA30731 CAA67261 CAA98968 EAW94630 EAW94631
RNA Seq Atlas 1277

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca