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
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 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
Domain IPR048287 Thrombospondin-like, N-terminal 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 Thrombospondin-like, N-terminal domain
UniProtKB:A0A8M9PIP9 2024
UniProtKB:A0A8M9PD17 2024
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA col5a1-201 (1) Havana 9581 nt
mRNA col5a1-202 (1) Ensembl 4662 nt
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