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FLASH GENE

Symbol

ACAN

contributors: mct/npt - updated : 07-07-2009

HGNC name	aggrecan
HGNC id	319

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	FOD osteochondritis dissecans familial SEDMA spondyloepiphyseal dysplasia, Kimberley type
Location	15q26.1      Physical location : 89.346.673 - 89.418.585
Synonym name	chondroitin sulfate proteoglycan 1
	large aggregating proteoglycan
	aggrecan 1 (chondroitin sulfate proteoglycan 1, large aggregating proteoglycan, antigen identified by monoclonal antibody A0122)
	cartilage-specific proteoglycan core protein
Synonym symbol(s)	CSPG1, CSPGCP, MSK16, AGC1, SEDK, AGCAN, CSPCP

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	component of a cluster of paralogous genes on chromosomes 15 and 19
STRUCTURE	71.91 kb     17 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see TM6SF1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - splicing 8217 isoform 1 - 2317 moderately in skin and connective tissues, lowly in colon Baldwin, Aoyama (2009) lacking two different segments in the C-terminus compared to variant 2 lacking the EGF-like and CRP-like domains being the most predominant transcript a 19 aa signal peptide of 2.1 kda a 2298 aa mature peptide of 237.3 kda variant 2 19 splicing 8514 isoform 2 250 2416 predominantly in connective tissues, highly in bone and moderately in trachea Baldwin, Aoyama (2009) a 19 aa signal peptide of 2.1 kda a 2397 aa mature peptide if 248.3 kda containing the EGF-like and CRP-like domains in the C terminus

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

cell lineage

cell lines

fluid/secretion

at STAGE

Text	highly in developing cartilage, in the pre-hypertrophic zone of the growth plate (Aoyama 2009)

PROTEIN

PHYSICAL PROPERTIES		Hydrophobic
STRUCTURE

motifs/domains	six calpain cleavage sites: one in the IGD
	(interglobular domain), one in the KS (keratan sulfate) region, two
	in the CS1 and two in the CS2 region
	a 19 aa signal peptide
	an Ig-like V-type (immunoglobulin-like) domain
	four Link domains
	an EGF-like domain
	a C-type lectin domain
	a complement regulatory-like Sushi (CCP/SCR) domain
	three globular domains (G1, G2 and G3) and a GAG-attachment domain to which multiple chondroitin sulfate and keratan sulfate chains are attached (Aoyama 2009)
	a hydrophobic transmembrane segment (TM)

conjugated

GlycoP

HOMOLOGY

interspecies	homolog to murine Agc1
	homolog to C.elegans f40f4.6

intraspecies

paralog to CSPG3

Homologene

FAMILY

aggrecan/Versican proteoglycan family

CATEGORY

adhesion , structural protein

SUBCELLULAR LOCALIZATION	extracellular
text	being a major component of extracellular matrix of cartilagenous tissues

basic FUNCTION	playing a role in the resistance to the compression in cartilage
	major proteoglycan of the extracellular matrix in cartilage (Aoyama 2009)
	playing a critical role in regulating matrix assembly (Stattin 2010)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	skeletal development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with FBLN1
	interacting with CTGF (may contribute to the physiological distribution of CCN2/CTGF in the growth plate of cartilage) (Aoyama 2009)

cell & other	binding avidly to hyaluronic acid via an N-terminal globular region
	binding to sugar

REGULATION

activated by

SOX9

ASSOCIATED DISORDERS

corresponding disease(s)

SEDMA , FOD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Cmd (cartilage matrix deficiency) homologpus mice