COL9A1
Collagen alpha-1(IX) chain
Protein Summary
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]
- ENST00000320755
- ENSP00000315252
- ENSG00000112280
- ENST00000357250
- ENSP00000349790
- ENST00000370496
- ENSP00000359527
- MED
- EDM6
- STL4
- DJ149L1.1.2
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
IDG Development Level Summary
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: 59.03 (req: < 5)
Gene RIFs: 21 (req: <= 3)
Antibodies: 176 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 59.03 (req: >= 5)
Gene RIFs: 21 (req: > 3)
Antibodies: 176 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 5
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Expression Data (0 Tissues)
Related Tools
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (120)
PPP1R12C
Family: Enzyme
Novelty: 0.00465397
p_int: 0.999995401
p_ni: 4.7e-8
p_wrong: 0.000004552
Score: 0.507
Data Source: BioPlex,STRINGDB
VHL
Family: Enzyme
Novelty: 0.00285782
p_int: 0.999122736
p_ni: 0.000862979
p_wrong: 0.000014285
Score: 0.169
Data Source: BioPlex,STRINGDB
COL2A1
Novelty: 0.0011102
p_int: 0.999114226
p_ni: 0.000885767
p_wrong: 8e-9
Score: 0.963
Data Source: BioPlex,STRINGDB
COL6A1
Novelty: 0.00644855
p_int: 0.893771411
p_ni: 0.106228589
Score: 0.931
Data Source: BioPlex,STRINGDB
COL6A2
Novelty: 0.01275082
p_int: 0.773080795
p_ni: 0.226919205
Score: 0.918
Data Source: BioPlex,STRINGDB
Nearest Tclin Targets
Pathways (25)
Reactome (16)
KEGG (5)
PathwayCommons (2)
WikiPathways (2)
Click on a row in the table to change the structure displayed.
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Assembly of collagen fibrils and other multimeric structures | ||||
Reactome | Axon guidance | ||||
Reactome | Collagen biosynthesis and modifying enzymes | ||||
Reactome | Collagen chain trimerization | ||||
Reactome | Collagen degradation | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Assembly of collagen fibrils and other multimeric structures | ||||
Axon guidance | ||||
Collagen biosynthesis and modifying enzymes | ||||
Collagen chain trimerization | ||||
Collagen degradation | ||||
Viral Interactions (0)
Gene Ontology Terms (10)
Functions (3)
Components (5)
Processes (2)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Inferred by Curator (IC) | BHF-UCL | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Disease Associations ()
GWAS Traits (0)
Find similar targets by:
IDG Resources
Orthologs (8)
1 – 5 of 8
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Macaque | collagen type IX alpha 1 chain | 714809 | ||||||
Mouse | MGI:88465 | 12839 | ||||||
Dog | collagen type IX alpha 1 chain | VGNC:49782 | 481873 | |||||
Horse | collagen type IX alpha 1 chain | VGNC:16751 | 100057208 | |||||
Cow | collagen type IX alpha 1 chain | VGNC:53787 | 282195 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Macaque | collagen type IX alpha 1 chain | |||||
Mouse | ||||||
Dog | collagen type IX alpha 1 chain | |||||
Horse | collagen type IX alpha 1 chain | |||||
Cow | collagen type IX alpha 1 chain | |||||
Publication Statistics
PubMed Score 59.03
PubMed score by year
PubTator Score 33.20
PubTator score by year
Related Publications
Text Mined References (48)
GeneRif Annotations (21)
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