Gene

col5a1

ID
ZDB-GENE-041105-6
Name
procollagen, type V, alpha 1
Symbol
col5a1 Nomenclature History
Previous Names
  • si:dkey-87m23.1
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to have extracellular matrix structural constituent and heparin binding activity. Predicted to be involved in cell adhesion and collagen fibril organization. Predicted to localize to collagen type V trimer and extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and type I Ehlers-Danlos syndrome. Is expressed in several structures, including dermis; head; neural crest; notochord; and otic vesicle. Orthologous to human COL5A1 (collagen type V alpha 1 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
18 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col5a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Ehlers-Danlos syndrome classic type 1 Alliance Ehlers-Danlos syndrome, classic type, 1 130000
Fibromuscular dysplasia, multifocal 619329
Associated With col5a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations