Gene

col6a3

ID

ZDB-GENE-070501-8

Name

collagen, type VI, alpha 3

Symbol

col6a3 Nomenclature History

Previous Names

wu:fb06e12
wu:fs74g09

Type

protein_coding_gene

Location

Chr: 9 Mapping Details/Browsers

Description

Predicted to have serine-type endopeptidase inhibitor activity. Involved in axon extension and motor neuron axon guidance. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy; dystonia 27; and muscular dystrophy. Is expressed in head. Orthologous to human COL6A3 (collagen type VI alpha 3 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 3 publications

Cross-Species Comparison

High Throughput Data

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 col6a3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
dystonia 27	Alliance	Dystonia 27	616411
Ullrich congenital muscular dystrophy 1C	Alliance	Ullrich congenital muscular dystrophy 1C	620728
		Bethlem myopathy 1C	620726

Associated With col6a3 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Ullrich congenital muscular dystrophy	AB + MO1-col6a3	standard conditions	Telfer et al., 2010

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR020901	Proteinase inhibitor I2, Kunitz, conserved site
Domain	IPR002035	von Willebrand factor, type A
Domain	IPR002223	Pancreatic trypsin inhibitor Kunitz domain
Family	IPR052229	Collagen VI and Biomineralization Protein PIF
Homologous_superfamily	IPR036465	von Willebrand factor A-like domain superfamily
Homologous_superfamily	IPR036880	Pancreatic trypsin inhibitor Kunitz domain superfamily

Domain Details Per Protein

Protein	Length	Collagen VI and Biomineralization Protein PIF	Pancreatic trypsin inhibitor Kunitz domain	Pancreatic trypsin inhibitor Kunitz domain superfamily	Proteinase inhibitor I2, Kunitz, conserved site	von Willebrand factor A-like domain superfamily	von Willebrand factor, type A
UniProtKB:A0A8M9Q514 InterPro	10897
UniProtKB:A0A8M6Z141 InterPro	10924
UniProtKB:A0A8M6Z0G5 InterPro	10986
UniProtKB:A0A8M9QFY4 InterPro	10959

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	col6a3-201 (1) Ensembl	Ensembl	8,565 nt	Select Tool ZFIN BLAST
mRNA	col6a3-203 (1) Ensembl	Ensembl	914 nt	Select Tool
mRNA	col6a3-205 (1) Ensembl	Ensembl	11,949 nt	Select Tool
mRNA	col6a3-206 (1) Ensembl	Ensembl	1,209 nt	Select Tool
mRNA	col6a3-207 (1) Ensembl	Ensembl	2,697 nt	Select Tool
ncRNA	col6a3-003 (1) Ensembl	Ensembl	849 nt	Select Tool
ncRNA	col6a3-005 (1) Ensembl	Ensembl	894 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations