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Guidelines

MIRAGE

collagen type XI alpha 1 chain

Summary

Gene Symbol

COL11A1

Organism

Homo sapiens (human)

External Links

NCBI Gene

1301

PubChem

1301

Alliance of Genome Resources

HGNC:2186

Annotation

Keyword

Alternative splicing
Calcium
Cataract
Collagen
Direct protein sequencing
Disease variant
Disulfide bond
Dwarfism
Ectodermal dysplasia
Extracellular matrix
Glycoprotein
Hydroxylation
Metal-binding
Non-syndromic deafness
Reference proteome
Repeat
Signal
Stickler syndrome

Proteins

Displaying **all 2** entries
UniProt	Protein Name
Q59HB5
P12107

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
cartilage condensation	IEA
ossification	IEA
chondrocyte development	IEA
proteoglycan metabolic process	IEA
visual perception	IMP	10573014 8872475

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound 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

organic substance metabolic process [inference]

macromolecule 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

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process

cellular process [inference]

cellular developmental process [inference]

cell differentiation [inference]

endodermal cell differentiation

cell development [inference]

chondrocyte development

cellular component organization or biogenesis [inference]

cellular component organization [inference]

extracellular structure organization [inference]

extracellular matrix organization

collagen fibril organization

external encapsulating structure organization [inference]

extracellular matrix organization

collagen fibril organization

supramolecular fiber organization [inference]

collagen fibril organization

cell aggregation [inference]

cartilage condensation

multicellular organismal process [inference]

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

detection of mechanical stimulus involved in sensory perception of sound

developmental process [inference]

anatomical structure morphogenesis [inference]

animal organ morphogenesis [inference]

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis

skeletal system morphogenesis [inference]

embryonic skeletal system morphogenesis

embryonic morphogenesis [inference]

inner ear morphogenesis

embryonic organ morphogenesis [inference]

embryonic skeletal system morphogenesis

tissue morphogenesis [inference]

muscle tissue morphogenesis [inference]

cardiac muscle tissue morphogenesis [inference]

ventricular cardiac muscle tissue morphogenesis

anatomical structure development [inference]

tissue development [inference]

connective tissue development [inference]

tendon development

cell development [inference]

chondrocyte development

cellular developmental process [inference]

cell differentiation [inference]

endodermal cell differentiation

cell development [inference]

chondrocyte development

response to stimulus [inference]

response to external stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to abiotic stimulus [inference]

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

response to mechanical stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of stimulus [inference]

detection of external stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of abiotic stimulus [inference]

detection of mechanical stimulus [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

detection of stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception [inference]

detection of mechanical stimulus involved in sensory perception of sound

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
collagen type XI trimer	NAS	10486316 17876790
collagen type XI trimer	IDA	3182841
collagen type XI trimer	IBA
extracellular space	IBA

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer [inference]

fibrillar collagen trimer [inference]

collagen type XI trimer

cellular anatomical entity [inference]

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
extracellular matrix structural constituent	NAS	10486316
heparin binding	IBA
extracellular matrix structural constituent conferring tensile strength	RCA	28327460 28675934
extracellular matrix structural constituent conferring tensile strength	IBA
protein-macromolecule adaptor activity	NAS	10486316

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent

extracellular matrix structural constituent conferring tensile strength

binding [inference]

small molecule binding [inference]

organic acid binding [inference]

carboxylic acid binding [inference]

heparan sulfate binding

ion binding [inference]

anion binding [inference]

carboxylic acid binding [inference]

heparan sulfate binding

cation binding [inference]

metal ion binding

extracellular matrix binding

carbohydrate derivative binding [inference]

glycosaminoglycan binding [inference]

sulfur compound binding [inference]

molecular adaptor activity [inference]

protein-macromolecule adaptor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

collagen alpha

Functional Category

E: Amino acid transport and metabolism
G: Carbohydrate transport and metabolism
T: Signal transduction mechanisms

Displaying **all 3** entries
Gene Ontology
extracellular matrix organization
extracellular matrix structural constituent conferring tensile strength
extracellular matrix structural constituent

Displaying **all 2** entries
InterPro
Collagen triple helix repeat
Fibrillar collagen, C-terminal

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0070601	autosomal dominant nonsyndromic deafness 37	Alliance of Genome Resources
DOID:0080672	fibrochondrogenesis 1	Alliance of Genome Resources
DOID:0080675	Stickler syndrome 2	Alliance of Genome Resources
DOID:0111510	Marshall syndrome	Alliance of Genome Resources

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Panthera leo	122228175		PANLE10545

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Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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GlyCosmos Portal v4.4.0

Last updated: December 8, 2025