Version: 8.0.0Date: Tue Jan 28 2025
Gene
COL1A1
- Species
- Homo sapiens
- Symbol
- COL1A1
- Name
- collagen type I alpha 1 chain
- Synonyms
- alpha-1 type I collagen
- alpha1(I) procollagen
- Biotype
- protein coding gene
- Automated Description
- Enables identical protein binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including collagen biosynthetic process; collagen fibril organization; and positive regulation of canonical Wnt signaling pathway. Acts upstream of or within skeletal system development. Located in extracellular space. Part of collagen type I trimer. Implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. Biomarker of several diseases, including alcoholic hepatitis; autoimmune disease (multiple); end stage renal disease; lupus nephritis; and thoracic aortic aneurysm.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24023
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr17:50184101...50201632 - (17.53 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.