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aggrecan

Summary

Gene Symbol

ACAN

Aliases

CSPGCP
aggrecan proteoglycan

Organism

Homo sapiens (human)

External Links

NCBI Gene

176

HGNC

319

KEGG Gene ID

hsa:176

PubChem

176

Alliance of Genome Resources

HGNC:319

Annotation

Keyword

3D-structure
Alternative splicing
Calcium
Direct protein sequencing
Disease variant
Disulfide bond
Dwarfism
EGF-like domain
Extracellular matrix
Immunoglobulin domain
Lectin
Metal-binding
Proteoglycan
Reference proteome
Repeat
Signal
Sushi

Proteins

Displaying 1 entry
UniProt	Protein Name
P16112	Cartilage-specific proteoglycan core protein Chondroitin sulfate proteoglycan core protein 1

Annotation information from UniProt.

Gene Ontology (GO)

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GO Term	Evidence Code	PMID
skeletal system development	NAS	1569188
skeletal system development	IBA
positive regulation of neuroblast proliferation
proteolysis	NAS	1569188
cell adhesion	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

cellular process [inference]

cell adhesion

cellular developmental process [inference]

cell differentiation [inference]

glial cell differentiation

developmental process [inference]

anatomical structure development [inference]

system development [inference]

cellular developmental process [inference]

cell differentiation [inference]

glial cell differentiation

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of developmental process [inference]

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of cell development [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of cellular process [inference]

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

regulation of neural precursor cell proliferation [inference]

regulation of neuroblast proliferation [inference]

positive regulation of neuroblast proliferation

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of cell development [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of multicellular organismal process [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

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GO Term	Evidence Code	PMID
extracellular region	TAS
extracellular space	IBA
Golgi lumen	TAS
lysosomal lumen	TAS
synapse	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell junction [inference]

synapse

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

perisynaptic extracellular matrix [inference]

perineuronal net

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

Golgi lumen

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GO Term	Evidence Code	PMID
extracellular matrix structural constituent	TAS	1569188
protein binding	IPI	17588949 32814053
hyaluronic acid binding	IEA
extracellular matrix structural constituent conferring compression resistance	RCA	20551380 27068509
carbohydrate binding	IEA

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent

extracellular matrix structural constituent conferring compression resistance

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

carbohydrate derivative binding [inference]

glycosaminoglycan binding [inference]

hyaluronic acid binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

aggrecan core protein

Functional Category

M: Cell wall/membrane/envelope biogenesis
O: Posttranslational modification, protein turnover, chaperones

Displaying **all 6** entries
Gene Ontology
calcium ion binding
central nervous system development
hyaluronic acid binding
metal ion binding
positive regulation of neuroblast proliferation
skeletal system development

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InterPro
Aggrecan/versican, C-type lectin-like domain
C-type lectin fold
C-type lectin, conserved site
C-type lectin-like/link domain superfamily
C-type lectin-like
EGF-like calcium-binding domain
EGF-like domain
EGF-type aspartate/asparagine hydroxylation site
Immunoglobulin V-set domain
Immunoglobulin subtype

Human Protein Atlas

ENSG00000157766

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K06792

Name

aggrecan 1

References

16185673

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0112282	spondyloepiphyseal dysplasia Kimberley type	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000272	Malar flattening
HP:0000303	Mandibular prognathia
HP:0000358	Posteriorly rotated ears
HP:0000368	Low-set, posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000470	Short neck
HP:0000926	Platyspondyly
HP:0001156	Brachydactyly

Displaying **all 6** entries
Disease ID	Disease Name
ORPHA:435804	short stature-advanced bone age-early-onset osteoarthritis syndrome
OMIM:608361	spondyloepiphyseal dysplasia, Kimberley type
ORPHA:93283	spondyloepiphyseal dysplasia, Kimberley type
OMIM:612813	spondyloepimetaphyseal dysplasia, aggrecan type
ORPHA:171866	spondyloepimetaphyseal dysplasia, aggrecan type
OMIM:165800	short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Xenopus tropicalis	176	Xenbase:XB-GENE-921494
Mus musculus	11595	Xenbase:XB-GENE-921494	MOUSE53334
Rattus norvegicus	58968	Xenbase:XB-GENE-921494	RATNO16381
Bos taurus	280985		BOVIN16377
Sus scrofa	397255		PIGXX31927
Canis lupus familiaris	403828		CANLF12043
Pan troglodytes	453629		PANTR11097
Macaca mulatta	698498		MACMU41840
Oryctolagus cuniculus	100009079		RABIT17442
Monodelphis domestica	100016782		MONDO05376

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

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Guidelines

Summary

External Links

Annotation

OrthoDB (Group)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements