Gene
col1a1a
- ID
- ZDB-GENE-030131-9102
- Name
- collagen, type I, alpha 1a
- Symbol
- col1a1a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Involved in several processes, including bone mineralization involved in bone maturation; fin development; and fin regeneration. Localizes to cytoplasm. Is expressed in several structures, including head; integument; myotome; osteoblast; and pectoral fin. Used to study osteogenesis imperfecta and osteogenesis imperfecta type 3. Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; bone disease (multiple); cutaneous leishmaniasis; dermatofibrosarcoma protuberans; and tooth disease (multiple). Orthologous to human COL1A1 (collagen type I alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 97 figures from 65 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb21 (7 images)
- cb384 (8 images)
Wild Type Expression Summary
- All Phenotype Data
- 33 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Caffey disease | Alliance | Caffey disease | 114000 |
Ehlers-Danlos syndrome arthrochalasia type 1 | Alliance | Ehlers-Danlos syndrome, arthrochalasia type, 1 | 130060 |
osteogenesis imperfecta type 1 | Alliance | Osteogenesis imperfecta, type I | 166200 |
osteogenesis imperfecta type 2 | Alliance | Osteogenesis imperfecta, type II | 166210 |
osteogenesis imperfecta type 3 | Alliance | Osteogenesis imperfecta, type III | 259420 |
osteogenesis imperfecta type 4 | Alliance | Osteogenesis imperfecta, type IV | 166220 |
osteoporosis | Alliance | {Bone mineral density variation QTL, osteoporosis} | 166710 |
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 619115 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
---|---|---|---|---|---|
UniProtKB:Q6U1J5
|
1447 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
col1a1a-201
(1)
|
Havana | 5797 nt | |
ncRNA |
col1a1a-002
(1)
|
Havana | 697 nt |
Interactions and Pathways
No data available
Plasmids
No data available