Acan aggrecan [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Acanprovided by MGI
Official Full Name: aggrecanprovided by MGI
Primary source: MGI:MGI:99602
See related: Ensembl:ENSMUSG00000030607 AllianceGenome:MGI:99602
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Agc; cmd; Agc1; CSPCP; Cspg1; b2b183Clo
Summary: Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including cartilage development; collagen fibril organization; and proteoglycan biosynthetic process. Located in basement membrane. Is active in GABA-ergic synapse; glutamatergic synapse; and perisynaptic extracellular matrix. Is expressed in several structures, including embryo mesenchyme; inner ear; limb; lower jaw; and skeletal system. Used to study achondroplasia. Human ortholog(s) of this gene implicated in spondyloepiphyseal dysplasia Kimberley type. Orthologous to human ACAN (aggrecan). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 40.6) and CNS E14 (RPKM 4.1) See more
Orthologs: human all
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Genomic context

Location:: 7 D2; 7 44.88 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (78702974..78764847)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (79053226..79115099)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Early ablation of Ccr2 in aggrecan-expressing cells following knee injury ameliorates joint damage and pain during post-traumatic osteoarthritis.
Title: Early ablation of Ccr2 in aggrecan-expressing cells following knee injury ameliorates joint damage and pain during post-traumatic osteoarthritis.
Mitochondrial movement in Aralar/Slc25a12/AGC1 deficient cortical neurons.
Title: Mitochondrial movement in Aralar/Slc25a12/AGC1 deficient cortical neurons.
aggrecan has an integral role in chondrogenesis that may be mediated through intracellular mechanisms.
Title: Aggrecan is required for chondrocyte differentiation in ATDC5 chondroprogenitor cells.
Study of complete proteoglycanomes in the ascending aortas of normal and thoracic aortic aneurysm and dissection (TAAD) patients and in a mouse model of severe Marfan syndrome identified that massive aggrecan and versican accumulation in ascending TAAD occurs via increased synthesis and/or reduced proteolytic turnover predisposing to type-A dissections.
Title: Massive aggrecan and versican accumulation in thoracic aortic aneurysm and dissection.
Loss of perineuronal nets by aggrecan removal induces a permanent state of critical period-like plasticity.
Title: Aggrecan Directs Extracellular Matrix-Mediated Neuronal Plasticity.
The degeneration found in homozygous mice is likely due to the compromised mechanical properties of the cartilage tissue upon aggrecan reduction.
Title: Aggrecan Hypomorphism Compromises Articular Cartilage Biomechanical Properties and Is Associated with Increased Incidence of Spontaneous Osteoarthritis.
Overexpression of Dlx2 enhances early chondrocyte differentiation by increasing accumulation of Col2alpha1, type II collagen and aggrecan, but interferes later stages of chondrocyte differentiation through inhibiting MMP13 expression.
Title: Dlx2 overexpression enhanced accumulation of type II collagen and aggrecan by inhibiting MMP13 expression in mice chondrocytes.
Kartogenin effectively increased the expression of Col II and aggrecan in hNPCs and slowed the degeneration of intervertebral discs stimulated by IL-1b and TNF-a
Title: Effects of kartogenin on the attenuated nucleus pulposus cell degeneration of intervertebral discs induced by interleukin-1β and tumor necrosis factor-α.
Acan mRNA and protein was reduced by 50% in AgcCre/Cre mouse model of dwarfism. Analysis of gene expression indicates impaired differentiation of chondrocyte in hyaline cartilage of AgcCre/Cre mice.
Title: Dwarfism in homozygous Agc1(CreERT) mice is associated with decreased expression of aggrecan.
As the primary site of agc1-deficiency is neuronal, this explains the lack of accumulation of brain lactate in agc1-deficiency in humans and mice.
Title: ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (8) 1 citation
Spontaneous (2) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Agc1 (e-PCR), detects polymorphism
- UniSTS:259691

Acan (e-PCR), detects polymorphism
- UniSTS:547953

UniSTS:497303 (e-PCR)
- UniSTS:497303

Acan (e-PCR), detects polymorphism
- UniSTS:497303

PMC21264P1 (e-PCR)
- UniSTS:272024

L07049 (e-PCR)
- UniSTS:159653

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables hyaluronic acid binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cartilage condensation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in central nervous system development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chondrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within collagen fibril organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glial cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neuroblast proliferation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in GABA-ergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
is_active_in perineuronal net	IBA Inferred from Biological aspect of Ancestor more info
located_in perineuronal net	ISO Inferred from Sequence Orthology more info
is_active_in perisynaptic extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: aggrecan core protein

Names: aggrecan 1; cartilage-specific proteoglycan core protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001361500.1 → NP_001348429.1 aggrecan core protein isoform 1 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC110520

Conserved Domains (8) summary

cd05900
Location:43 → 154

Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan

cd00033
Location:2087 → 2143

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

cd03588
Location:1960 → 2083

CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins

cd00054
Location:1918 → 1954

EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

cd03517
Location:153 → 247

Link_domain_CSPGs_modules_1_3; Link_domain_CSPGs_modules_1_3; this extracellular link domain is found in the first and third link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan. In addition, it is found in the first link module of three other CSPGs: ...

cd03520
Location:254 → 349

Link_domain_CSPGs_modules_2_4; Link_domain_CSPGs_modules_2_4; this link domain is found in the second and fourth link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan and, in the second link module of three other CSPGs: versican, neurocan, and brevican. The ...

cl25397
Location:1171 → 1630

AidA; Type V secretory pathway, adhesin AidA [Cell wall/membrane/envelope biogenesis, Intracellular trafficking, secretion, and vesicular transport]

cl28033
Location:689 → 1027

Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
NM_007424.3 → NP_031450.2 aggrecan core protein isoform 2 precursor

See identical proteins and their annotated locations for NP_031450.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC110520

Consensus CDS

CCDS21377.1

UniProtKB/Swiss-Prot

E9QLS9, Q61282, Q64021

Related

ENSMUSP00000032835.6, ENSMUST00000032835.7

Conserved Domains (6) summary

cd05900
Location:43 → 154

Ig_Aggrecan; Immunoglobulin (Ig)-like domain of the chondroitin sulfate proteoglycan core protein (CSPG), aggrecan

cd00033
Location:2049 → 2105

CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

cd03588
Location:1922 → 2045

CLECT_CSPGs; C-type lectin-like domain (CTLD) of the type found in chondroitin sulfate proteoglycan core proteins

smart00410
Location:36 → 150

IG_like; Immunoglobulin like

cd03517
Location:153 → 247

Link_domain_CSPGs_modules_1_3; Link_domain_CSPGs_modules_1_3; this extracellular link domain is found in the first and third link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan. In addition, it is found in the first link module of three other CSPGs: ...

cd03520
Location:254 → 349

Link_domain_CSPGs_modules_2_4; Link_domain_CSPGs_modules_2_4; this link domain is found in the second and fourth link modules of the chondroitin sulfate proteoglycan core protein (CSPG) aggrecan and, in the second link module of three other CSPGs: versican, neurocan, and brevican. The ...