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Guidelines

MIRAGE

collagen type VI alpha 3 chain

Summary

Gene Symbol

COL6A3

Organism

Homo sapiens (human)

External Links

NCBI Gene

1293

PubChem

1293

Alliance of Genome Resources

HGNC:2213

Annotation

Keyword

3D-structure
Alternative splicing
Cell adhesion
Collagen
Congenital muscular dystrophy
Direct protein sequencing
Disease variant
Disulfide bond
Dystonia
Extracellular matrix
Glycoprotein
Hydroxylation
Phosphoprotein
Reference proteome
Repeat
Serine protease inhibitor
Signal

Proteins

Displaying **all 5** entries
UniProt	Protein Name
Q8N4Z1
Q63HQ4
B7ZW00
D9ZGF2
P12111

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
cell adhesion	IEA
muscle organ development	TAS	8782832
response to UV	IEA
response to glucose	IEA
negative regulation of peptidase activity

GO Hierarchy

biological process

cellular process [inference]

cell adhesion

signal transduction [inference]

intracellular signal transduction [inference]

phosphatidylinositol 3-kinase/protein kinase B signal transduction

cell death [inference]

programmed cell death [inference]

apoptotic process [inference]

neuron apoptotic process

developmental process [inference]

anatomical structure development [inference]

animal organ development [inference]

muscle organ development

muscle structure development [inference]

muscle organ development

response to stimulus [inference]

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus [inference]

response to UV

response to chemical [inference]

response to organic substance [inference]

response to carbohydrate [inference]

response to monosaccharide [inference]

response to hexose [inference]

response to glucose

response to oxygen-containing compound [inference]

response to carbohydrate [inference]

response to monosaccharide [inference]

response to hexose [inference]

response to glucose

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of nitrogen compound metabolic process [inference]

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of proteolysis [inference]

negative regulation of peptidase activity

regulation of cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

phosphatidylinositol 3-kinase/protein kinase B signal transduction

regulation of molecular function [inference]

negative regulation of molecular function [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of catalytic activity [inference]

negative regulation of catalytic activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of hydrolase activity [inference]

negative regulation of hydrolase activity [inference]

negative regulation of peptidase activity

regulation of peptidase activity [inference]

negative regulation of peptidase activity

Displaying entries **1 - 5** of 12 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
extracellular region	HDA	27068509
collagen type VI trimer	TAS	8782832
extracellular space	IBA
extracellular space	HDA	20551380

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer [inference]

collagen type VI trimer

cellular anatomical entity [inference]

membrane [inference]

plasma membrane [inference]

sarcolemma

external encapsulating structure [inference]

extracellular matrix

collagen-containing extracellular matrix

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle

extracellular exosome

Displaying **all 3** entries
GO Term	Evidence Code	PMID
serine-type endopeptidase inhibitor activity	IEA
extracellular matrix structural constituent conferring tensile strength	RCA	20551380 25037231 27559042 28327460 28675934
extracellular matrix structural constituent conferring tensile strength	ISS

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent [inference]

extracellular matrix structural constituent conferring tensile strength

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme inhibitor activity [inference]

peptidase inhibitor activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

peptidase regulator activity [inference]

peptidase inhibitor activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

endopeptidase regulator activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

molecular function inhibitor activity [inference]

enzyme inhibitor activity [inference]

peptidase inhibitor activity [inference]

endopeptidase inhibitor activity [inference]

serine-type endopeptidase inhibitor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

collagen

Functional Category

E: Amino acid transport and metabolism
Q: Secondary metabolites biosynthesis, transport and catabolism
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
metal ion binding
oxidoreductase activity

Displaying **all 2** entries
InterPro
Di-copper centre-containing domain superfamily
Tyrosinase copper-binding domain

Disease

Disease Ontology

Displaying **all 10** entries
DO ID	Disease Name	Source
DOID:0050663	Bethlem myopathy	Alliance of Genome Resources
DOID:0060943	Ullrich congenital muscular dystrophy 1C	Alliance of Genome Resources
DOID:0090050	dystonia 27	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma	Alliance of Genome Resources
DOID:10763	hypertension	Alliance of Genome Resources
DOID:13223	uterine fibroid	Alliance of Genome Resources
DOID:2033	communication disorder	Alliance of Genome Resources
DOID:5844	myocardial infarction	Alliance of Genome Resources
DOID:784	chronic kidney disease	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 46 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	1293	ZFIN:ZDB-GENE-070501-8
Mus musculus	12835	ZFIN:ZDB-GENE-070501-8	MOUSE29165
Danio rerio	182256	ZFIN:ZDB-GENE-070501-8
Rattus norvegicus	367313		RATNO42317
Canis lupus familiaris	403582		CANLF10126
Ovis aries	443051		SHEEP00056
Pan troglodytes	460045		PANTR30128
Bos taurus	530657		BOVIN27411
Macaca mulatta	694701		MACMU05645
Equus caballus	100066356		HORSE36606

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Last updated: December 8, 2025