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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

KEGG Gene ID

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
Proteomics identification
Reference proteome
Repeat
Signal
Stickler syndrome

Proteins

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

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
cartilage condensation
chondrocyte development
proteoglycan metabolic process
visual perception	IMP
sensory perception of sound	IMP

GO Hierarchy

biological process

cellular process [inference]

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]

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 [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]

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

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]

cell development [inference]

chondrocyte development

animal gross anatomical part developmental process [inference]

tissue development [inference]

connective tissue development [inference]

tendon 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 13 in total

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GO Term	Evidence Code	PMID
extracellular region	TAS
collagen trimer	IEA
collagen type II trimer
collagen type XI trimer	NAS
collagen type XI trimer	IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

collagen trimer

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

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

endoplasmic reticulum lumen

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

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

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GO Term	Evidence Code	PMID
extracellular matrix structural constituent	NAS
extracellular matrix structural constituent	IEA
extracellular matrix structural constituent conferring tensile strength	RCA
extracellular matrix structural constituent conferring tensile strength	IBA
protein-macromolecule adaptor activity	NAS

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]

ion binding [inference]

cation binding [inference]

metal ion binding

extracellular matrix binding

molecular adaptor activity [inference]

protein-macromolecule adaptor activity

Gene Ontology information from NCBI Gene and UniProt.

Disease

Disease Ontology

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

Ortholog

Displaying **all 2** entries
Species	Gene ID	Alliance of Genome Resources
Mus musculus	12814	MGI:88446
Rattus norvegicus	25654	RGD:2372

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 6, 2026