Gene
col1a1b
- ID
- ZDB-GENE-030131-4400
- Name
- collagen, type I, alpha 1b
- Symbol
- col1a1b Nomenclature History
- Previous Names
-
- col1a3
- alpha3(I) (1)
- fj59a10
- hm:zeh0348
- wu:fa95h05
- wu:fd02a10
- wu:fj59a10
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Involved in skeletal system development. Predicted to localize to collagen type III trimer and extracellular space. Used to study osteogenesis imperfecta. Human ortholog(s) of this gene implicated in several diseases, including beta thalassemia; bone disease (multiple); cutaneous leishmaniasis; dermatofibrosarcoma protuberans; and tooth disease (multiple). Is expressed in several structures, including integument; liver; myoseptum; osteoblast; and tendon. Orthologous to human COL1A1 (collagen type I alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 26 figures from 16 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:77441 (11 images)
Wild Type Expression Summary
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 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| osteogenesis imperfecta | col1a1bdmh29/+ | standard conditions | Gistelinck et al., 2018 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M2B227
|
1448 | ||||
|
UniProtKB:Q6PEI9
|
1449 | ||||
|
UniProtKB:A0A8M2B1Z3
|
1395 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col1a1b-201
(1)
|
Ensembl | 5,610 nt |
Interactions and Pathways
No data available
Plasmids
No data available