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Collagen alpha-3(VI) chain

Summary

UniProt ID

P12111

Gene Symbol

COL6A3

Gene ID

[1293]

Organism

Homo sapiens (human)

External Links

GlyConnect

Collagen alpha-3(VI) chain

GlyGen

P12111

PubChem

P12111

The O-GlcNAc Database

P12111

RaftProt

P12111

O-GlcNAcAtlas

P12111

Re-Glyco

P12111

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 Proteomics identification Reference proteome Repeat Serine protease inhibitor Signal

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	Reference
cell adhesion
muscle organ development	TAS	PMID
response to UV
response to glucose	IEA	GO_REF
phosphatidylinositol 3-kinase/protein kinase B signal transduction

GO Hierarchy

biological process

cellular process [inference]

cell adhesion

signal transduction [inference]

intracellular signal transduction [inference]

intracellular signaling cassette [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 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 cellular process [inference]

signal transduction [inference]

intracellular signal transduction [inference]

intracellular signaling cassette [inference]

phosphatidylinositol 3-kinase/protein kinase B signal transduction

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

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GO Term	Evidence Code	Reference
extracellular region	TAS	Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome
extracellular region	HDA	PMID PMID
collagen type VI trimer	TAS	PMID PMID
collagen type VI trimer	IEA	GO_REF
obsolete extracellular space

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer [inference]

von-Willerbrand-factor-A-domain-rich collagen trimer [inference]

collagen type VI trimer

extracellular protein-containing complex [inference]

collagen type VI trimer

cellular anatomical structure [inference]

extracellular region

membrane [inference]

plasma membrane [inference]

sarcolemma

external encapsulating structure [inference]

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	Reference
serine-type endopeptidase inhibitor activity	IEA	GO_REF
extracellular matrix structural constituent conferring tensile strength	RCA	PMID PMID PMID PMID PMID
extracellular matrix structural constituent conferring tensile strength	ISS	GO_REF

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 UniProt.

Annotation information from UniProt.

Sequence

MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLAVGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGDGVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIVGNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIRVGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVLVLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIVGVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYADTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGKSLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGTPEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKSDILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAGILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILFLFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKTGKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADPAELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEFVQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNILVSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPTFRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVDYLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGSRIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSLEQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGPSKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGVPQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIMNSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGLVQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVITGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAMHETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVVANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLADLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACCGVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFPGEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPKGETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPGLIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKKGERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALIQSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTYNNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPTRASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDICNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQHFARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESAPNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDKSTELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNPVTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPATAAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWERAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQPPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNENKFGSQKECEKVCAPVLAKPGVISVMGT

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying entries **1 - 10** of 27 in total

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Position	Description	PubMed ID	GlyTouCan ID	Source
108	N-linked (GlcNAc...) asparagine			UniProt GlyGen
116	N-linked (GlcNAc...) asparagine		G10486CT	UniProt GlyGen
118		28657654 30620550 38253038 38665916	G49108TO	The O-GlcNAc Database
202	N-linked (GlcNAc...) asparagine			UniProt GlyGen
251	N-linked (GlcNAc...) asparagine			UniProt GlyGen
1105				GlyGen
1150		29391424	G52131KU	GlyGen GlyConnect
1423		30459171	G43417UB	GlyGen
1619		30459171	G53434XO G58001LT G43417UB G29068FM	GlyGen
1627		30459171	G43417UB G29068FM	GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 8** entries
Pathway Name	Organism
Assembly of collagen fibrils and other multimeric structures	Homo sapiens
Collagen biosynthesis and modifying enzymes	Homo sapiens
Collagen chain trimerization	Homo sapiens
Collagen degradation	Homo sapiens
ECM proteoglycans	Homo sapiens
Integrin cell surface interactions	Homo sapiens
NCAM1 interactions	Homo sapiens
Signaling by PDGF	Homo sapiens

Disease

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

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

International Collaboration

Acknowledgements