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 enable heparin binding activity. Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion and collagen fibril organization. Predicted to be located in extracellular region. Predicted to be part of collagen type V trimer. Predicted to be active in extracellular matrix 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
Comparative Information
Expression
All Expression Data
14 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
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
Fibromuscular dysplasia, multifocal 619329
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations