Gene

col6a1

ID
ZDB-GENE-070501-6
Name
collagen, type VI, alpha 1
Symbol
col6a1 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Involved in locomotory behavior and skeletal muscle tissue development. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Is expressed in caudal fin; dermis; mandibular arch skeleton; muscle; and pleuroperitoneal region. Used to study Bethlem myopathy and congenital muscular dystrophy. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL6A1 (collagen type VI alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
22 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col6a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bethlem myopathy Alliance Bethlem myopathy 1 158810
Ullrich congenital muscular dystrophy Alliance Ullrich congenital muscular dystrophy 1 254090
Associated With col6a1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002035 von Willebrand factor, type A
Homologous_superfamily IPR036465 von Willebrand factor A-like domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat von Willebrand factor A-like domain superfamily von Willebrand factor, type A
UniProtKB:F1Q6P3 1007
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations