Gene

col1a1a

ID
ZDB-GENE-030131-9102
Name
collagen, type I, alpha 1a
Symbol
col1a1a Nomenclature History
Previous Names
  • alpha1(I) (1)
  • cb21 (1)
  • col1a1
  • chi
  • chihuahua
  • med
  • microwaved
  • sb:cb21 (1)
  • sb:cb384
  • wu:fa99c12
  • wu:fb02c06
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 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
68 figures from 41 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
26 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col1a1a 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 col1a1a 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
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