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ACAN aggrecan [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001135 Homo sapiens aggrecan (ACAN), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand TBD TBD
NM_013227 Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand TBD TBD
XM_006720419 PREDICTED: Homo sapiens aggrecan (ACAN), transcript variant X1, mRNA. GenEZ ORF Cloning On-demand TBD TBD

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Related Services

Gene Symbol ACAN
Entrez Gene ID 176
Full Name aggrecan
Synonyms AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK
General protein information
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

15

15q26.1

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].
Disorder

MIM: 155760

Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3);

mRNA Protein Product Sequence Price Select
NM_001135, 256017258 NP_001126, 256017259 aggrecan core protein isoform 1 precursor ORF Sequence $3500.00
NM_013227, 256017256 NP_037359, 256017257 aggrecan core protein isoform 2 precursor ORF Sequence $3500.00
XM_006720419, 578826685 XP_006720482, 578826686 aggrecan core protein isoform X1 ORF Sequence $3500.00
WikiPathways
WP474Endochondral Ossification
WP2431Spinal Cord Injury
Reactome
REACT_474Metabolism of carbohydrates
REACT_111217Metabolism
REACT_147734MPS II - Hunter syndrome
REACT_147749MPS IIID - Sanfilippo syndrome D
REACT_147857MPS I - Hurler syndrome
REACT_147798MPS IV - Morquio syndrome B
REACT_147825MPS IV - Morquio syndrome A
REACT_147719MPS VI - Maroteaux-Lamy syndrome
REACT_147753MPS IIIA - Sanfilippo syndrome A
REACT_147739MPS IX - Natowicz syndrome
REACT_147860MPS IIIC - Sanfilippo syndrome C
REACT_147853Mucopolysaccharidoses
REACT_147788MPS IIIB - Sanfilippo syndrome B
REACT_147759MPS VII - Sly syndrome
REACT_116125Disease
REACT_118779Extracellular matrix organization
REACT_118572Degradation of the extracellular matrix
REACT_121315Glycosaminoglycan metabolism
REACT_121313Keratan sulfate degradation
REACT_121120Keratan sulfate biosynthesis
REACT_121288Keratan sulfate/keratin metabolism
REACT_163906ECM proteoglycans
REACT_200783Myoclonic epilepsy of Lafora
REACT_200833Glycogen storage diseases
Homo sapiens (human)ACANNP_001126.3
Danio rerio (zebrafish)acanaXP_005166542.1
Danio rerio (zebrafish)acanbXP_688042.4
Xenopus (Silurana) tropicalis (western clawed frog)acanXP_002932297.2
Process
IDNameEvidence
GO:0001501skeletal system developmentNAS
GO:0005975carbohydrate metabolic processTAS
GO:0006508proteolysisNAS
GO:0007155cell adhesionIEA
GO:0018146keratan sulfate biosynthetic processTAS
GO:0022617extracellular matrix disassemblyTAS
GO:0030198extracellular matrix organizationTAS
GO:0030203glycosaminoglycan metabolic processTAS
GO:0042339keratan sulfate metabolic processTAS
GO:0042340keratan sulfate catabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005576extracellular regionTAS
GO:0005578proteinaceous extracellular matrixIEA
GO:0005796Golgi lumenTAS
GO:0031012extracellular matrixIDA
GO:0043202lysosomal lumenTAS
Function
IDNameEvidence
GO:0005201extracellular matrix structural constituentTAS
GO:0005515protein bindingIPI
GO:0005540hyaluronic acid bindingIEA
GO:0030246carbohydrate bindingIEA
GO:0046872metal ion bindingIEA
GeneCards ACAN
UniProt E7EX88, E7ENV9
Vega OTTHUMG00000171989
MIM 155760
Ensembl ENSG00000157766
HGNC 319
HPRD 01123

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

What is the normal function of the ACAN gene?

The ACAN gene provides instructions for making the aggrecan protein. Aggrecan is a type of protein known as a proteoglycan, which means it has several sugar molecules attached to it. It is the most abundant proteoglycan in cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways, and external ears.

Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. These interactions occur at a specific region of the aggrecan protein called the C-type lectin domain (CLD). Because of the attached sugars, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints. Although its role is unclear, aggrecan affects bone development.

Interactant

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