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. Is expressed in several structures, including dermis; head; neural crest; notochord; and otic vesicle. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 1. Orthologous to human COL5A1 (collagen type V alpha 1 chain).
Genome Resources
Note
None
Expression
All Expression Data
14 figures from 5 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
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
Associated With col5a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001791 Laminin G domain
Homologous_superfamily IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat Concanavalin A-like lectin/glucanase domain superfamily Fibrillar collagen, C-terminal Laminin G domain
UniProtKB:D6MUD5 2010
UniProtKB:F6NPA4 2011
UniProtKB:A0A0R4IRG2 1554
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations