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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
Gene Name
Ensembl ID
  • ENST00000320755
  • ENSP00000315252
  • ENSG00000112280
  • ENST00000357250
  • ENSP00000349790
  • ENST00000370496
  • ENSP00000359527

Symbol
  • MED
  • EDM6
  • STL4
  • DJ149L1.1.2
Illumination Graph
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


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: 40.75   (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: 40.75   (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
Protein Data Bank (5)
1 – 5 of 5
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (25)
Assembly of collagen fibrils and other multimeric structures (R-HSA-2022090)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 16
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
Protein-Protein Interactions (120)
1 – 10 of 120
PPP1R12C
Tdark
Family: Enzyme
Novelty: 0.0064555
p_int: 0.999995401
p_ni: 4.7e-8
p_wrong: 0.000004552
Score: 0.507
Data Source: BioPlex,STRINGDB
VHL
Tchem
Family: Enzyme
Novelty: 0.00323188
p_int: 0.999122736
p_ni: 0.000862979
p_wrong: 0.000014285
Score: 0.169
Data Source: BioPlex,STRINGDB
COL2A1
Tbio
Novelty: 0.00119609
p_int: 0.999114226
p_ni: 0.000885767
p_wrong: 8e-9
Score: 0.963
Data Source: BioPlex,STRINGDB
COL6A1
Tbio
Novelty: 0.00861534
p_int: 0.893771411
p_ni: 0.106228589
Score: 0.931
Data Source: BioPlex,STRINGDB
COL6A2
Tbio
Novelty: 0.01825304
p_int: 0.773080795
p_ni: 0.226919205
Score: 0.918
Data Source: BioPlex,STRINGDB
COL9A2
Tbio
Novelty: 0.02303844
Score: 0.999
Data Source: Reactome,STRINGDB
COL9A3
Tbio
Novelty: 0.03642087
Score: 0.995
Data Source: Reactome,STRINGDB
MMP13
Tchem
Family: Enzyme
Novelty: 0.00068218
Score: 0.942
Data Source: STRINGDB
COL11A2
Tbio
Novelty: 0.01141248
Score: 0.932
Data Source: STRINGDB
COL11A1
Tbio
Novelty: 0.00813892
Score: 0.931
Data Source: STRINGDB
Publication Statistics
PubMed Score  40.75

PubMed score by year
PubTator Score  33.2

PubTator score by year
Amino Acid Sequence
Residue Counts
Sequence
MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLISQFQVDKAAS
1-70
RRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMTGSTLKKNWNIWQIQDSSGKE
70-140
QVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQWHKIMIGVERSSATLFVDCNRIESLPIKPRG
140-210
PIDIDGFAVLGKLADNPQVSVPFELQWMLIHCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPP
210-280
GPPGVPGIDGIDGDRGPKGPPGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPG
280-350
SRGFPGRGIPGPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRS
350-420
GYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDKGEKGARGLDG
420-490
EPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLPGVDGRDGIPGMPGTKGEPGK
490-560
PGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQMGNSGKPGQQGPPGEVGPRGPQGLPGSRGEL
560-630
GPVGSPGLPGKLGSLGSPGLPGLPGPPGLPGMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPG
630-700
PKGSAGNPGEPGLRGPEGSRGLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVI
700-770
QEHFAEMAASLKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEK
770-840
GERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGFCEPASCTMQA
840-910
GQRAFNKGPDP
910-921
MKTCWKIPVFFFVCSFLEPWASAAVKRRPRFPVNSNSNGGNELCPKIRIGQDDLPGFDLISQFQVDKAASRRAIQRVVGSATLQVAYKLGNNVDFRIPTRNLYPSGLPEEYSFLTTFRMTGSTLKKNWNIWQIQDSSGKEQVGIKINGQTQSVVFSYKGLDGSLQTAAFSNLSSLFDSQWHKIMIGVERSSATLFVDCNRIESLPIKPRGPIDIDGFAVLGKLADNPQVSVPFELQWMLIHCDPLRPRRETCHELPARITPSQTTDERGPPGEQGPPGPPGPPGVPGIDGIDGDRGPKGPPGPPGPAGEPGKPGAPGKPGTPGADGLTGPDGSPGSIGSKGQKGEPGVPGSRGFPGRGIPGPPGPPGTAGLPGELGRVGPVGDPGRRGPPGPPGPPGPRGTIGFHDGDPLCPNACPPGRSGYPGLPGMRGHKGAKGEIGEPGRQGHKGEEGDQGELGEVGAQGPPGAQGLRGITGIVGDKGEKGARGLDGEPGPQGLPGAPGDQGQRGPPGEAGPKGDRGAEGARGIPGLPGPKGDTGLPGVDGRDGIPGMPGTKGEPGKPGPPGDAGLQGLPGVPGIPGAKGVAGEKGSTGAPGKPGQMGNSGKPGQQGPPGEVGPRGPQGLPGSRGELGPVGSPGLPGKLGSLGSPGLPGLPGPPGLPGMKGDRGVVGEPGPKGEQGASGEEGEAGERGELGDIGLPGPKGSAGNPGEPGLRGPEGSRGLPGVEGPRGPPGPRGVQGEQGATGLPGVQGPPGRAPTDQHIKQVCMRVIQEHFAEMAASLKRPDSGATGLPGRPGPPGPPGPPGENGFPGQMGIRGLPGIKGPPGALGLRGPKGDLGEKGERGPPGRGPNGLPGAIGLPGDPGPASYGRNGRDGERGPPGVAGIPGVPGPPGPPGLPGFCEPASCTMQAGQRAFNKGPDP