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

Genome Assembly

GRCz12tu

Annotation Status

Current

Description

Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including dermis; dermomyotome; head; neural crest; and notochord. 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

21 figures from 11 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Type	InterPro ID	Name
Domain	IPR000885	Fibrillar collagen, C-terminal
Domain	IPR001791	Laminin G domain
Domain	IPR048287	Thrombospondin-like, N-terminal domain
Family	IPR050149	Collagen superfamily
Family	IPR050938	Collagen and Collagen-like Structural Proteins
Homologous_superfamily	IPR013320	Concanavalin A-like lectin/glucanase domain superfamily
Repeat	IPR008160	Collagen triple helix repeat