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

19 figures from 9 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
Homologous_superfamily	IPR013320	Concanavalin A-like lectin/glucanase domain superfamily
Repeat	IPR008160	Collagen triple helix repeat

Domain Details Per Protein

Protein	Length	Collagen superfamily	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 InterPro	2024
UniProtKB:A0A8M9PD17 InterPro	2024

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	col5a1-201 (1) Ensembl	Ensembl		9,581 nt	Select Tool ZFIN BLAST
mRNA	col5a1-202 (1) Ensembl	Ensembl		4,662 nt	Select Tool ZFIN BLAST

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