InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL1A1

Summary

InnateDB Protein

IDBP-58240.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL1A1

Protein Name

collagen, type I, alpha 1

Synonyms

OI4;

Species

Homo sapiens

Ensembl Protein

ENSP00000225964

InnateDB Gene

IDBG-58238 (COL1A1)

Protein Structure

UniProt Annotation

Function

Type I collagen is a member of group I collagen (fibrillar forming collagen).

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}.

Disease Associations

Caffey disease (CAFFD) [MIM:114000]: Characterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles. The involved bones may also appear inflamed, with painful swelling and systemic fever often accompanying the illness. The bone changes usually begin before 5 months of age and resolve before 2 years of age. {ECO:0000269PubMed:15864348}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. {ECO:0000269PubMed:10739762, ECO:0000269PubMed:17211858}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ehlers-Danlos syndrome 7A (EDS7A) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta. {ECO:0000269PubMed:1634225, ECO:0000269PubMed:16638323, ECO:0000269PubMed:16705691, ECO:0000269PubMed:16786509, ECO:0000269PubMed:1718984, ECO:0000269PubMed:1737847, ECO:0000269PubMed:17875077, ECO:0000269PubMed:18670065, ECO:0000269PubMed:2794057, ECO:0000269PubMed:3244312, ECO:0000269PubMed:8223589}. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency. {ECO:0000269PubMed:10627137, ECO:0000269PubMed:1460047, ECO:0000269PubMed:1511982, ECO:0000269PubMed:1613761, ECO:0000269PubMed:16566045, ECO:0000269PubMed:16786509, ECO:0000269PubMed:18670065, ECO:0000269PubMed:1874719, ECO:0000269PubMed:18996919, ECO:0000269PubMed:1939261, ECO:0000269PubMed:1953667, ECO:0000269PubMed:2035536, ECO:0000269PubMed:2036375, ECO:0000269PubMed:2037280, ECO:0000269PubMed:2116413, ECO:0000269PubMed:2211725, ECO:0000269PubMed:2339700, ECO:0000269PubMed:2470760, ECO:0000269PubMed:2777764, ECO:0000269PubMed:2794057, ECO:0000269PubMed:2913053, ECO:0000269PubMed:3016737, ECO:0000269PubMed:3108247, ECO:0000269PubMed:3403550, ECO:0000269PubMed:3667599, ECO:0000269PubMed:7520724, ECO:0000269PubMed:7679635, ECO:0000269PubMed:7691343, ECO:0000269PubMed:7961597, ECO:0000269PubMed:8100209, ECO:0000269PubMed:8349697, ECO:0000269PubMed:8349698, ECO:0000269PubMed:8364588, ECO:0000269PubMed:8456808, ECO:0000269PubMed:8786074, ECO:0000269PubMed:9143923, ECO:0000269Ref.45, ECO:0000269Ref.48}. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. {ECO:0000269PubMed:10408781, ECO:0000269PubMed:16879195, ECO:0000269PubMed:1770532, ECO:0000269PubMed:18670065, ECO:0000269PubMed:2037280, ECO:0000269PubMed:2511192, ECO:0000269PubMed:2794057, ECO:0000269PubMed:7691343, ECO:0000269PubMed:7881420, ECO:0000269PubMed:8019571, ECO:0000269PubMed:8364588, ECO:0000269PubMed:8456809, ECO:0000269PubMed:8669434, ECO:0000269PubMed:8723681, ECO:0000269PubMed:9101304}. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta. {ECO:0000269PubMed:16786509, ECO:0000269PubMed:16879195, ECO:0000269PubMed:1770532, ECO:0000269PubMed:17875077, ECO:0000269PubMed:1988452, ECO:0000269PubMed:2745420, ECO:0000269PubMed:7691343, ECO:0000269PubMed:7982948, ECO:0000269PubMed:8094076, ECO:0000269PubMed:8339541, ECO:0000269PubMed:9600458}. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteoporosis (OSTEOP) [MIM:166710]: A systemic skeletal disorder characterized by decreased bone mass and deterioration of bone microarchitecture without alteration in the composition of bone. The result is fragile bones and an increased risk of fractures, even after minimal trauma. Osteoporosis is a chronic condition of multifactorial etiology and is usually clinically silent until a fracture occurs. {ECO:0000269PubMed:8841196, ECO:0000269PubMed:9535665}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.Note=A chromosomal aberration involving COL1A1 is found in dermatofibrosarcoma protuberans. Translocation t(17;22)(q22;q13) with PDGF.

Tissue Specificity

Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000885 Fibrillar collagen, C-terminal
IPR001007 von Willebrand factor, type C
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR008160 Collagen triple helix repeat

PFAM

PF01410
PF00093
PF00147
PF01391

PRINTS

PIRSF

SMART

SM00038
SM00214
SM00186

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P02452