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 cytoplasm; extracellular matrix; and extracellular space. Is expressed in several structures, including integument; liver; myoseptum; osteoblast; and tendon. Used to study osteogenesis imperfecta. 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
- 25 figures from 15 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 | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
col1a1b-201
(1)
|
Havana | 5610 nt |
Interactions and Pathways
No data available
Plasmids
No data available