ACAN aggrecan [Homo sapiens] - Gene

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Summary

Official Symbol: ACANprovided by HGNC
Official Full Name: aggrecanprovided by HGNC
Primary source: HGNC:319
See related: Ensembl:ENSG00000157766; HPRD:01123; MIM:155760; Vega:OTTHUMG00000171989
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AGC1; SEDK; AGCAN; CSPG1; MSK16; CSPGCP
Summary: This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 15q26.1

Sequence :: Chromosome: 15; NC_000015.9 (89346674..89418585)

See ACAN in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Increased expression of collagen II, aggrecan, and cartilage oligomeric matrix protein (COMP), were observed during differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes.
Title: Chondrogenic differentiation of induced pluripotent stem cells from osteoarthritic chondrocytes in alginate matrix.
Yiqi Huayu Bushen Recipe increased the expression of aggrecan, decreased the expression of type X collagen, and promoted cell proliferation in cells from degenerated human intervertebral discs.
Title: [Effects of Chinese herbal medicine Yiqi Huayu Bushen Recipe on expressions of aggrecan and type X collagen mRNAs in cells from degenerated human intervertebral discs].
In Turkish population, short repeated alleles of the aggrecan gene are associated with increased disc degeneration and disc herniation.
Title: Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.
Data show that a molecular complex of fibronectin and aggrecan predicts response to lumbar ESI for radiculopathic back pain with HNP.
Title: Outcome of lumbar epidural steroid injection is predicted by assay of a complex of fibronectin and aggrecan from epidural lavage.
in the human cerebral cortex, discrete, layer-specific PNNs are assembled through the participation of selected aggrecan isoforms that characterize defined subsets of cortical neurons
Title: Differential distribution of aggrecan isoforms in perineuronal nets of the human cerebral cortex.
The objective of the present study was to assess the immunolocalization of aggrecan in the annulus, and to assess molecular gene expression patterns in the annulus extracellular matrix.
Title: Variations in aggrecan localization and gene expression patterns characterize increasing stages of human intervertebral disk degeneration.
Carrying a copy of the aggrecan allele with 21 repeats may increase the risk of multiple disc degeneration in subjects less than 40 years of age.
Title: The association of aggrecan gene polymorphism with the risk of intervertebral disc degeneration.
This study tests the hypothesis that disease severity is characterized by alterations in expression of cartilage-specific genes for aggrecan and collagen type II.
Title: Alterations in expression of cartilage-specific genes for aggrecan and collagen type II in osteoarthritis.
Confocal immunostaining demonstrated colocalization of m-calpain and the aggrecan product within the lower hypertrophic chondrocytes and in limited region of the pericellular matrix.
Title: Human growth plate contains aggrecan fragments that can be generated by m-calpain.
The cell-specific production rate of MIA was quantitatively proportional to the aggrecan gene expression level in the early and middle phase of cartilage chondrocyte differentiation.
Title: Quantitative correlation between production rate of melanoma inhibitory activity and aggrecan gene expression level during differentiation from mesenchymal stem cells to chondrocytes and redifferentiation of chondrocytes.

Submit: New GeneRIF Correction See all (56)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association analysis identifies 20 loci that influence adult height.

Products	Interactant	Other Gene	Source	Pubs	Description
P16112	Q9UHI8	ADAMTS1	HPRD	PubMed
P16112	O75173	ADAMTS4	HPRD	PubMed
P16112	Q9UNA0	ADAMTS5	HPRD	PubMed
P16112	P07858	CTSB	HPRD	PubMed
P16112	P23142	FBLN1	HPRD	PubMed
P16112	P98095	FBLN2	HPRD	PubMed
P16112	P10915	HAPLN1	HPRD	PubMed
P16112	P51884	LUM	HPRD	PubMed
P16112	P03956	MMP1	HPRD	PubMed
P16112	P50281	MMP14	HPRD	PubMed
P16112	Q99542	MMP19	HPRD	PubMed
P16112	P08253	MMP2	HPRD	PubMed
P16112	O60882	MMP20	HPRD	PubMed
P16112	P08254	MMP3	HPRD	PubMed
P16112	P22894	MMP8	HPRD	PubMed
P16112	P98066	TNFAIP6	HPRD	PubMed
P16112	Q92752	TNR	HPRD	PubMed
BioGRID:106684	BioGRID:108493	FBLN2	BioGRID	PubMed	Reconstituted Complex
BioGRID:106684	BioGRID:110238	LUM	BioGRID	PubMed	Co-purification
BioGRID:106684	BioGRID:247522	Nedd4	BioGRID	PubMed	Biochemical Activity
BioGRID:106684	BioGRID:112984	TNFAIP6	BioGRID	PubMed	Reconstituted Complex
BioGRID:106684	BioGRID:112997	TNR	BioGRID	PubMed	Reconstituted Complex
BioGRID:106684	BioGRID:107844	VCAN	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
binding	IEA Inferred from Electronic Annotation more info
extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
hyaluronic acid binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sugar binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cell adhesion	IEA Inferred from Electronic Annotation more info
proteolysis	NAS Non-traceable Author Statement more info	PubMed
skeletal system development	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with extracellular matrix	IDA Inferred from Direct Assay more info
extracellular region	IEA Inferred from Electronic Annotation more info
proteinaceous extracellular matrix	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: aggrecan core protein

Names: aggrecan core protein; large aggregating proteoglycan; cartilage-specific proteoglycan core protein; chondroitin sulfate proteoglycan core protein 1

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_012794.1 RefSeqGene

Range

5001..76912

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135.3 → NP_001126.3 aggrecan core protein isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks two different segments in the C-terminus, compared to variant 2. The resulting protein (isoform 1) is shorter when it is compared to isoform 2 and lacks the EGF-like and CRP-like domains found in isoform 2.

Source sequence(s)

AC103982

Consensus CDS

CCDS53971.1

UniProtKB/TrEMBL

E7ENV9

Related

ENSP00000341615, OTTHUMP00000248790, ENST00000352105, OTTHUMT00000416269

Conserved Domains (5) summary

cd03517
Location:153 – 247
Blast Score: 470

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
Blast Score: 461

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 ...

cd05900
Location:43 – 154
Blast Score: 536

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

cd03588
Location:2282 – 2405
Blast Score: 800

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

pfam07686
Location:30 – 148
Blast Score: 144

V-set; Immunoglobulin V-set domain
NM_013227.3 → NP_037359.3 aggrecan core protein isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) represents the longer transcript and it encodes the longer protein (isoform 2). Isoform 2 contains an EGF-like and a CRP-like domain in the C-terminus.

Source sequence(s)

AC103982

Consensus CDS

CCDS53970.1

UniProtKB/TrEMBL

E7EX88

Related

ENSP00000387356, ENST00000439576

Conserved Domains (7) summary

cd00054
Location:2283 – 2313
Blast Score: 107

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
Blast Score: 468

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
Blast Score: 459

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 ...

cd05900
Location:43 – 154
Blast Score: 536

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

cd00033
Location:2447 – 2503
Blast Score: 149

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:2320 – 2443
Blast Score: 795

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

pfam07686
Location:30 – 148
Blast Score: 144

V-set; Immunoglobulin V-set domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

89346674..89418585

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

65458891..65530587

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC103982.10 (114916..186827)	None
genomic	CH471101.1	EAX02017.1
		EAX02018.1
		EAX02019.1
		EAX02020.1
		EAX02021.1
genomic	CS025622.1	CAI61688.1
genomic	L29488.1	AAB48068.1
genomic	S74659.1	AAC60643.2
mRNA	AK290723.1	BAF83412.1
mRNA	BC036445.1	AAH36445.1
mRNA	BC150624.1	AAI50625.1
mRNA	BQ182050.1	None
mRNA	BQ446640.1	None
mRNA	DA596050.1	None
mRNA	J05062.1	AAA35726.1
mRNA	M55172.1	AAA62824.1
mRNA	U13192.1	None
mRNA	X17406.1	CAA35463.1
mRNA	X80278.1	None

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P16112.2	GenPept	UniProtKB/Swiss-Prot:P16112
Q6LE94	GenPept	UniProtKB/TrEMBL:Q6LE94
Q6PID9	GenPept	UniProtKB/TrEMBL:Q6PID9