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. 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 beta thalassemia; 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
Expression
All Expression Data
16 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col1a1b Human Ortholog
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
Associated With col1a1b Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001007 VWFC domain
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat Fibrillar collagen, C-terminal VWFC domain
UniProtKB:Q6PEI9 1449
UniProtKB:Q6NZ15 1449
UniProtKB:Q90YI9 441
UniProtKB:F1QDL1 1449
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations