Tbio COL9A1 Collagen alpha-1(IX) chain

Protein Summary

Description

Structural component of hyaline cartilage and vitreous of the eye. This gene encodes one of the three alpha chains of type IX collagen, which is a minor (5-20%) collagen component of hyaline cartilage. Type IX collagen is usually found in tissues containing type II collagen, a fibrillar collagen. Studies in knockout mice have shown that synthesis of the alpha 1 chain is essential for assembly of type IX collagen molecules, a heterotrimeric molecule, and that lack of type IX collagen is associated with early onset osteoarthritis. Mutations in this gene are associated with osteoarthritis in humans, with multiple epiphyseal dysplasia, 6, a form of chondrodysplasia, and with Stickler syndrome, a disease characterized by ophthalmic, orofacial, articular, and auditory defects. Two transcript variants that encode different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Uniprot Accession IDs

• P20849
• Q13699
• Q13700
• Q5TF52
• Q6P467
• Q96BM8
• Q99225
• Q9H151
• Q9H152
• Q9Y6P2
• Q9Y6P3

Gene Name

• COL9A1

Ensembl ID

• ENST00000320755
• ENSP00000315252
• ENSG00000112280
• ENST00000357250
• ENSP00000349790
• ENST00000370496
• ENSP00000359527

Symbol

• MED
• EDM6
• STL4
• DJ149L1.1.2

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
tissue sample	0.7
disease	0.62
cellular component	0.55
cell line	0.54
phenotype	0.54

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: 65.3   (req: < 5)

Gene RIFs: 21   (req: <= 3)

Antibodies: 176   (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: 65.3   (req: >= 5)

Gene RIFs: 21   (req: > 3)

Antibodies: 176   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 5

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