Tbio COL1A1 Collagen alpha-1(I) chain

Protein Summary

Description

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

Uniprot Accession IDs

• P02452
• O76045
• P78441
• Q13896
• Q13902
• Q13903
• Q14037
• Q14992
• Q15176
• Q15201
• Q16050
• Q59F64
• Q7KZ30
• Q7KZ34
• Q8IVI5
• Q8N473
• Q9UML6
• Q9UMM7

Gene Name

• COL1A1

Ensembl ID

• ENST00000225964
• ENSP00000225964
• ENSG00000108821

Symbol

• OI1
• OI2
• OI3
• OI4
• EDSC
• EDSARTH1

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	1
small molecule perturbation	0.99
transcription factor perturbation	0.99
chemical	0.85
gene perturbation	0.84

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1820.74   (req: < 5)

Gene RIFs: 563   (req: <= 3)

Antibodies: 816   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1820.74   (req: >= 5)

Gene RIFs: 563   (req: > 3)

Antibodies: 816   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 54

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0