GlyCosmos Portal

Submissions

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

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
response to glucose	IEA
negative regulation of peptidase activity	IEA
response to UV	IEA
cell adhesion	IEA

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 9 in total

1

2

Next ›

Last »
GO Term	Evidence Code	PMID
extracellular matrix	IDA	18400749
sarcolemma	IEA
extracellular vesicle	HDA	24769233
collagen-containing extracellular matrix	HDA IBA ISS	20551380 22261194 23658023 25037231 27559042 28327460 28675934
endoplasmic reticulum lumen	TAS

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

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

tyrosinase

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 entries **1 - 10** of 18 in total

1

2

Next ›

Last »
DO ID	Disease Name	Source
DOID:0050557	congenital muscular dystrophy	Alliance of Genome Resources
DOID:0050558	Ullrich congenital muscular dystrophy	Alliance of Genome Resources
DOID:0050663	Bethlem myopathy	Alliance of Genome Resources
DOID:0090050	dystonia 27	Alliance of Genome Resources
DOID:10534	stomach cancer	Alliance of Genome Resources
DOID:1070	primary open angle glaucoma	Alliance of Genome Resources
DOID:10763	hypertension	Alliance of Genome Resources
DOID:11054	urinary bladder cancer	Alliance of Genome Resources
DOID:13207	proliferative diabetic retinopathy	Alliance of Genome Resources
DOID:13223	uterine fibroid	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 50 in total

1

2

3

4

5

Next ›

Last »
Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	12835		MGI:88461	MOUSE29165
Caenorhabditis elegans	182256		WB:WBGene00020128
Rattus norvegicus	367313		RGD:1308704	RATNO42317
Xenopus laevis	398368		Xenbase:XB-GENE-6486860
Canis lupus familiaris	403582			CANLF10126
Ovis aries	443051			SHEEP00056
Pan troglodytes	460045	9598_0:000dd0		PANTR30128
Bos taurus	530657			BOVIN27411
Danio rerio	556874		ZFIN:ZDB-GENE-070501-8
Macaca mulatta	694701			MACMU05645

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

International Collaboration

Acknowledgements