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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]
Illumination Graph
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


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: 1446.32   (req: < 5)
Gene RIFs: 454   (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: 1446.32   (req: >= 5)
Gene RIFs: 454   (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
GWAS Traits (1)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
1
1
1
83.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
heel bone mineral density
1
83.2
Protein Data Bank (9)
1 – 5 of 9
PDB Structure Id
Ligand
Method
Resolution (Å)
M.W. (kDa)
Pub Year
Title
PDB Structure Id
M.W.
Resolution
Pub Year
Pathways (77)
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 14
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Assembly of collagen fibrils and other multimeric structures
Reactome
Binding and Uptake of Ligands by Scavenger Receptors
Reactome
Collagen biosynthesis and modifying enzymes
Reactome
Collagen chain trimerization
Reactome
Collagen formation
Name
Explore in Pharos
Explore in Source
Assembly of collagen fibrils and other multimeric structures
Binding and Uptake of Ligands by Scavenger Receptors
Collagen biosynthesis and modifying enzymes
Collagen chain trimerization
Collagen formation
Gene Ontology Terms (63)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
MGI
Inferred from Physical Interaction (IPI)
CAFA
Inferred from High Throughput Direct Assay (HDA)
BHF-UCL
Inferred from Biological aspect of Ancestor (IBA)
GO_Central
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (334)
1 – 10 of 334
COLGALT2
Tbio
Family: Enzyme
Novelty: 0.15981994
p_int: 0.999676823
p_ni: 0.000323177
Score: 0.913
Data Source: BioPlex,STRINGDB
P4HA2
Tbio
Family: Enzyme
Novelty: 0.02097718
p_int: 0.998842144
p_ni: 0.001157857
Score: 0.947
Data Source: BioPlex,Reactome,STRINGDB
ERAL1
Tbio
Family: Enzyme
Novelty: 0.01695998
p_int: 0.998085454
p_ni: 0.001914541
p_wrong: 5e-9
Score: 0.188
Data Source: BioPlex,STRINGDB
CAMKMT
Tbio
Family: Enzyme
Novelty: 0.00382649
p_int: 0.994391414
p_ni: 0.005608586
Score: 0.188
Data Source: BioPlex,STRINGDB
PLOD1
Tbio
Family: Enzyme
Novelty: 0.00905345
p_int: 0.988116445
p_ni: 0.011883555
Score: 0.959
Data Source: BioPlex,STRINGDB
LAIR2
Tbio
Novelty: 0.06117644
p_int: 0.976610393
p_ni: 0.023389455
p_wrong: 1.52e-7
Data Source: BioPlex
LIN9
Tbio
Novelty: 0.01112853
p_int: 0.972061579
p_ni: 0.027938419
p_wrong: 2e-9
Score: 0.191
Data Source: BioPlex,STRINGDB
TIMM44
Tbio
Family: Enzyme
Novelty: 0.020862
p_int: 0.97106864
p_ni: 0.028931253
p_wrong: 1.08e-7
Score: 0.199
Data Source: BioPlex,STRINGDB
UBXN11
Tbio
Novelty: 0.03165477
p_int: 0.961414082
p_ni: 0.038585918
Score: 0.189
Data Source: BioPlex,STRINGDB
RASGEF1B
Tbio
Novelty: 0.1261242
p_int: 0.954286712
p_ni: 0.045713129
p_wrong: 1.59e-7
Score: 0.312
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score  1446.32

PubMed score by year
PubTator Score  782.7

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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