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 be an extracellular matrix structural constituent. Acts upstream of or within skeletal system development. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in cytoplasm; extracellular matrix; and extracellular space. Is expressed in several structures, including integument; myoseptum; osteoblast; tendon; and trunk. Used to study osteogenesis imperfecta. Human ortholog(s) of this gene implicated in several diseases, including Ehlers-Danlos syndrome arthrochalasia type 1; aggressive periodontitis; bone disease (multiple); cutaneous leishmaniasis; and dentinogenesis imperfecta. 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