GlyCosmos Portal

Annotation

Keyword: 3D-structure Alternative splicing Calcium Cataract Collagen Deafness Direct protein sequencing Disease variant Disulfide bond Dwarfism Extracellular matrix Glycoprotein Hydroxylation Metal-binding Proteomics identification Reference proteome Repeat Signal Stickler syndrome

Gene Ontology (GO)

Displaying entries **1 - 5** of 27 in total

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GO Term	Evidence Code	Reference
skeletal system development	IMP	PMID
cartilage condensation
tissue homeostasis
endochondral ossification
chondrocyte differentiation	IMP	PMID

GO Hierarchy

biological process

cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

signal transduction in absence of ligand [inference]

extrinsic apoptotic signaling pathway in absence of ligand

apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

primary metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

carbohydrate derivative metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization [inference]

collagen fibril organization

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

collagen fibril organization

cell aggregation [inference]

cartilage condensation

multicellular organismal process [inference]

ossification [inference]

replacement ossification [inference]

endochondral ossification

system process [inference]

nervous system process [inference]

sensory perception [inference]

sensory perception of light stimulus [inference]

visual perception

sensory perception of mechanical stimulus [inference]

sensory perception of sound

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

heart morphogenesis

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis

skeletal system morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis

embryonic morphogenesis [inference]

inner ear morphogenesis

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis [inference]

embryonic skeletal joint morphogenesis

anatomical structure formation involved in morphogenesis [inference]

limb bud formation

anatomical structure development [inference]

tissue development [inference]

epithelium development [inference]

otic vesicle development

tube development [inference]

otic vesicle development

animal organ development [inference]

sensory organ development [inference]

otic vesicle development

embryonic organ development [inference]

notochord development

cartilage development

cartilage development involved in endochondral bone morphogenesis

system development [inference]

inner ear development [inference]

otic vesicle development

roof of mouth development

head development [inference]

anterior head development

cellular developmental process [inference]

cell differentiation [inference]

chondrocyte differentiation

homeostatic process [inference]

multicellular organismal-level homeostasis [inference]

anatomical structure homeostasis [inference]

tissue homeostasis

response to stimulus [inference]

response to endogenous stimulus [inference]

response to growth factor [inference]

cellular response to growth factor stimulus [inference]

cellular response to BMP stimulus

response to BMP [inference]

cellular response to BMP stimulus

cellular response to endogenous stimulus [inference]

cellular response to growth factor stimulus [inference]

cellular response to BMP stimulus

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of biological process [inference]

negative regulation of signaling [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of response to stimulus [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of cellular process [inference]

signal transduction [inference]

cell surface receptor signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

signal transduction in absence of ligand [inference]

extrinsic apoptotic signaling pathway in absence of ligand

apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway [inference]

extrinsic apoptotic signaling pathway in absence of ligand

regulation of cell communication [inference]

regulation of signal transduction [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression

regulation of programmed cell death [inference]

regulation of apoptotic process [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of apoptotic signaling pathway [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

regulation of extrinsic apoptotic signaling pathway in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of cellular process [inference]

negative regulation of cell communication [inference]

negative regulation of signal transduction [inference]

negative regulation of signal transduction in absence of ligand [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

negative regulation of programmed cell death [inference]

negative regulation of apoptotic process [inference]

negative regulation of apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway [inference]

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand

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GO Term	Evidence Code	Reference
extracellular region	TAS	Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome Reactome
extracellular region	IMP	PMID
extracellular region	IEA	GO_REF
extracellular region	HDA	PMID
collagen type II trimer	IDA	PMID PMID

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer [inference]

fibrillar collagen trimer [inference]

extracellular protein-containing complex [inference]

fibrillar collagen trimer [inference]

cellular anatomical structure [inference]

extracellular region

external encapsulating structure [inference]

extracellular matrix

basement membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

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GO Term	Evidence Code	Reference
extracellular matrix structural constituent	IDA	PMID
extracellular matrix structural constituent	IEA	GO_REF
extracellular matrix structural constituent conferring tensile strength	RCA	PMID PMID PMID
extracellular matrix structural constituent conferring tensile strength	IC	PMID
extracellular matrix structural constituent conferring tensile strength	IBA	GO_REF

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent

extracellular matrix structural constituent conferring tensile strength

binding [inference]

protein binding [inference]

signaling receptor binding [inference]

MHC protein binding [inference]

MHC class II protein binding

growth factor binding [inference]

platelet-derived growth factor binding

identical protein binding [inference]

protein homodimerization activity

proteoglycan binding

protein dimerization activity [inference]

protein homodimerization activity

small molecule binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

carbohydrate derivative binding [inference]

proteoglycan binding

Gene Ontology information from UniProt.

Annotation information from UniProt.

Sequence

MIRLGAPQTLVLLTLLVAAVLRCQGQDVQEAGSCVQDGQRYNDKDVWKPEPCRICVCDTGTVLCDDIICEDVKDCLSPEIPFGECCPICPTDLATASGQPGPKGQKGEPGDIKDIVGPKGPPGPQGPAGEQGPRGDRGDKGEKGAPGPRGRDGEPGTPGNPGPPGPPGPPGPPGLGGNFAAQMAGGFDEKAGGAQLGVMQGPMGPMGPRGPPGPAGAPGPQGFQGNPGEPGEPGVSGPMGPRGPPGPPGKPGDDGEAGKPGKAGERGPPGPQGARGFPGTPGLPGVKGHRGYPGLDGAKGEAGAPGVKGESGSPGENGSPGPMGPRGLPGERGRTGPAGAAGARGNDGQPGPAGPPGPVGPAGGPGFPGAPGAKGEAGPTGARGPEGAQGPRGEPGTPGSPGPAGASGNPGTDGIPGAKGSAGAPGIAGAPGFPGPRGPPGPQGATGPLGPKGQTGEPGIAGFKGEQGPKGEPGPAGPQGAPGPAGEEGKRGARGEPGGVGPIGPPGERGAPGNRGFPGQDGLAGPKGAPGERGPSGLAGPKGANGDPGRPGEPGLPGARGLTGRPGDAGPQGKVGPSGAPGEDGRPGPPGPQGARGQPGVMGFPGPKGANGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPIIDIAPMDIGGPEQEFGVDIGPVCFL

N : N-glycosylation Site
___ : Potential Sequon

Glycosylation Sites

Displaying entries **1 - 10** of 17 in total

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Position	Description	GlyTouCan ID	Source
157			GlyGen
190	O-linked (Gal...) hydroxylysine		UniProt GlyGen
280			GlyGen
287	O-linked (Gal...) hydroxylysine		UniProt GlyGen
299	O-linked (Gal...) hydroxylysine		UniProt GlyGen
308	O-linked (Gal...) hydroxylysine		UniProt GlyGen
317		G62765YT	GlyGen
374	O-linked (Gal...) hydroxylysine		UniProt GlyGen
380			GlyGen
397			GlyGen

Feature

: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt

Pathway

Displaying **all 3** 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

Disease

Displaying entries **1 - 10** of 21 in total

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DO ID	Disease Name	Source
DOID:0080028	spondyloepimetaphyseal dysplasia, Strudwick type	Alliance of Genome Resources
DOID:0080045	Kniest dysplasia	Alliance of Genome Resources
DOID:0080046	Stickler syndrome	Alliance of Genome Resources
DOID:0080056	achondrogenesis type II	Alliance of Genome Resources
DOID:0080676	Stickler syndrome 1	Alliance of Genome Resources
DOID:0111348	multiple epiphyseal dysplasia with myopia and deafness	Alliance of Genome Resources
DOID:0111508	Torrance type platyspondylic dysplasia	Alliance of Genome Resources
DOID:0112195	spondyloperipheral dysplasia	Alliance of Genome Resources
DOID:0112281	spondyloepiphyseal dysplasia Stanescu type	Alliance of Genome Resources
DOID:10159	osteonecrosis	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Guidelines

Summary

External Links

Annotation

International Collaboration

Acknowledgements