Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ASPN Gene

Aliases for ASPN Gene

  • Asporin 2 3
  • PLAP1 3 4 6
  • Asporin (LRR Class 1) 2 3
  • Asporin Proteoglycan 2 3
  • PLAP-1 3 4
  • SLRR1C 3 4
  • OS3 3 6
  • Periodontal Ligament Associated Protein 1 3
  • Periodontal Ligament-Associated Protein 1 4
  • Small Leucine-Rich Protein 1C 3

External Ids for ASPN Gene

Summaries for ASPN Gene

Entrez Gene Summary for ASPN Gene

  • This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family. The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization. Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to osteoarthritis, and also with intervertebral disc disease. Alternative splicing of this gene results in multiple transcript variants.[provided by RefSeq, Jul 2014]

GeneCards Summary for ASPN Gene

ASPN (Asporin) is a Protein Coding gene. Diseases associated with ASPN include degenerative disc disease and osteoarthritis. Among its related pathways are Degradation of the extracellular matrix and ECM proteoglycans. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is ECM2.

UniProtKB/Swiss-Prot for ASPN Gene

  • Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in osteoblast-driven collagen biomineralization activity.

Gene Wiki entry for ASPN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASPN Gene

Genomics for ASPN Gene

Genomic Location for ASPN Gene

Start:
92,456,205 bp from pter
End:
92,482,562 bp from pter
Size:
26,358 bases
Orientation:
Minus strand

Genomic View for ASPN Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASPN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASPN Gene

Regulatory Elements for ASPN Gene

Proteins for ASPN Gene

  • Protein details for ASPN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXN1-ASPN_HUMAN
    Recommended name:
    Asporin
    Protein Accession:
    Q9BXN1
    Secondary Accessions:
    • Q5TBF3
    • Q96K79
    • Q96LD0
    • Q9NXP3

    Protein attributes for ASPN Gene

    Size:
    380 amino acids
    Molecular mass:
    43417 Da
    Quaternary structure:
    • Interacts with TGFB1, TGFB2 and TGFB3. DCN, BGN, and FMOD inhibit binding to TGFB1. Interacts with BMP2. Interacts in vitro with type II collagen (By similarity). Interacts with type I collagen. DCN can inhibit collagen binding.
    SequenceCaution:
    • Sequence=BAA90967.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for ASPN Gene

Proteomics data for ASPN Gene at MOPED

Post-translational modifications for ASPN Gene

  • The N-linked glycan at Asn-282 is composed of variable structures of GlcNAc, mannose, fucose, HexNAc and hexose.
  • There is no serine/glycine dipeptide sequence expected for the attachment of O-linked glycosaminoglycans and this is probably not a proteoglycan. The O-linked polysaccharide on 54-Ser is probably the mucin type linked to GalNAc
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Ser55 and Asn282

Other Protein References for ASPN Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ASPN Gene

Domains for ASPN Gene

Gene Families for ASPN Gene

HGNC:
  • SLRR :Proteoglycans / Extracellular Matrix : Small leucine-rich repeats

UniProtKB/Swiss-Prot:

ASPN_HUMAN
Domain:
  • The LRR 5 repeat can inhibit BMP2-induced cytodifferentiation and may be involved in the interaction with BMP2 (By similarity). The repeats LRR 10, LRR 11 and LRR 12 are involved in binding type I collagen. The poly-Asp region is involved in binding calcium.:
    • Q9BXN1
  • Contains 1 LRRNT domain.:
    • Q9BXN1
Family:
  • Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily.:
    • Q9BXN1
Similarity:
  • Contains 11 LRR (leucine-rich) repeats.:
    • Q9BXN1
genes like me logo Genes that share domains with ASPN: view

Function for ASPN Gene

Molecular function for ASPN Gene

UniProtKB/Swiss-Prot Function: Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis. Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in osteoblast-driven collagen biomineralization activity.
UniProtKB/Swiss-Prot Induction: By TGFB1.

Gene Ontology (GO) - Molecular Function for ASPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IDA 19589127
GO:0005515 protein binding --
GO:0005518 collagen binding IEA --
genes like me logo Genes that share ontologies with ASPN: view

miRNA for ASPN Gene

miRTarBase miRNAs that target ASPN

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for ASPN Gene

Localization for ASPN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPN Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ASPN Gene COMPARTMENTS Subcellular localization image for ASPN gene
Compartment Confidence
extracellular 5
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ASPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IDA 17827158
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with ASPN: view

Pathways for ASPN Gene

genes like me logo Genes that share pathways with ASPN: view

Pathways by source for ASPN Gene

2 Reactome pathways for ASPN Gene

Interacting Proteins for ASPN Gene

Gene Ontology (GO) - Biological Process for ASPN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030282 bone mineralization IDA 19589127
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathway IDA 17827158
GO:0070171 negative regulation of tooth mineralization ISS --
genes like me logo Genes that share ontologies with ASPN: view

Compounds for ASPN Gene

(1) Novoseek inferred chemical compound relationships for ASPN Gene

Compound -log(P) Hits PubMed IDs
aspartate 66.6 14
genes like me logo Genes that share compounds with ASPN: view

Transcripts for ASPN Gene

mRNA/cDNA for ASPN Gene

Unigene Clusters for ASPN Gene

Asporin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ASPN Gene

No ASD Table

Relevant External Links for ASPN Gene

GeneLoc Exon Structure for
ASPN
ECgene alternative splicing isoforms for
ASPN

Expression for ASPN Gene

mRNA expression in normal human tissues for ASPN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASPN Gene

This gene is overexpressed in Artery - Aorta (9.9), Artery - Coronary (8.3), and Artery - Tibial (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ASPN Gene

SOURCE GeneReport for Unigene cluster for ASPN Gene Hs.435655

mRNA Expression by UniProt/SwissProt for ASPN Gene

Q9BXN1-ASPN_HUMAN
Tissue specificity: Higher levels in osteoarthritic articular cartilage, aorta, uterus. Moderate expression in small intestine, heart, liver, bladder, ovary, stomach, and in the adrenal, thyroid, and mammary glands. Low expression in trachea, bone marrow, and lung. Colocalizes with TGFB1 in chondrocytes within osteoarthritic (OA) lesions of articular cartilage.
genes like me logo Genes that share expressions with ASPN: view

Orthologs for ASPN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASPN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASPN 36
  • 99.65 (n)
  • 99.21 (a)
ASPN 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASPN 36
  • 89.95 (n)
  • 90.22 (a)
ASPN 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASPN 36
  • 87.3 (n)
  • 88.38 (a)
ASPN 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Aspn 36
  • 89.61 (n)
  • 91.67 (a)
Aspn 16
Aspn 37
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ASPN 37
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ASPN 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aspn 36
  • 88.95 (n)
  • 91.18 (a)
chicken
(Gallus gallus)
Aves ASPN 36
  • 75.43 (n)
  • 77.78 (a)
ASPN 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ASPN 37
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aspn 36
  • 73.03 (n)
  • 74.73 (a)
zebrafish
(Danio rerio)
Actinopterygii aspn 36
  • 60.31 (n)
  • 56.68 (a)
aspn 37
  • 56 (a)
OneToOne
Species with no ortholog for ASPN:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASPN Gene

ENSEMBL:
Gene Tree for ASPN (if available)
TreeFam:
Gene Tree for ASPN (if available)

Paralogs for ASPN Gene

Paralogs for ASPN Gene

Selected SIMAP similar genes for ASPN Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ASPN Gene

genes like me logo Genes that share paralogs with ASPN: view

Variants for ASPN Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ASPN Gene

Q9BXN1-ASPN_HUMAN
The poly-Asp region of ASPN is polymorphic and ranges at least from 11 to 17 Asp

Structural Variations from Database of Genomic Variants (DGV) for ASPN Gene

Variant ID Type Subtype PubMed ID
nsv893573 CNV Gain 21882294

Relevant External Links for ASPN Gene

HapMap Linkage Disequilibrium report
ASPN
Human Gene Mutation Database (HGMD)
ASPN

No data available for Sequence variations from dbSNP and Humsavar for ASPN Gene

Disorders for ASPN Gene

(2) OMIM Diseases for ASPN Gene (608135)

UniProtKB/Swiss-Prot

ASPN_HUMAN
  • Osteoarthritis 3 (OS3) [MIM:607850]: A degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include pain and joint stiffness often leading to significant disability and joint replacement. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to osteoarthritis is conferred by a triplet repeat expansion polymorphism. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is overrepresented relative to the common allele having 13 aspartic acid repeats (D13). The frequency of the D14 allele increases with disease severity. The D14 allele is also overrepresented in individuals with hip osteoarthritis.
  • Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. {ECO:0000269 PubMed:18304494}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to intervertebral disk disease, particularly lumbar disk degeneration, is conferred by a triplet repeat expansion polymorphism. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is associated with the disorder in some populations (PubMed:18304494). {ECO:0000269 PubMed:18304494}.

(1) University of Copenhagen DISEASES for ASPN Gene

(4) Novoseek inferred disease relationships for ASPN Gene

Disease -log(P) Hits PubMed IDs
osteoarthritis 75.3 19
osteoarthritis knee 70.5 2
osteoarthritis hip 64.6 1
rheumatoid arthritis 13.6 3

Relevant External Links for ASPN

Genetic Association Database (GAD)
ASPN
Human Genome Epidemiology (HuGE) Navigator
ASPN
genes like me logo Genes that share disorders with ASPN: view

Publications for ASPN Gene

  1. Association of the asporin D14 allele with lumbar-disc degeneration in Asians. (PMID: 18304494) Song Y.Q. … Chan D. (Am. J. Hum. Genet. 2008) 3 4 23 49
  2. Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians. (PMID: 18434216) Atif U. … Chiano M. (Osteoarthr. Cartil. 2008) 3 23 49
  3. Association of the CALM1 core promoter polymorphism with knee osteoarthritis in patients of Greek origin. (PMID: 18452398) Poulou M. … Tzetis M. (Genet. Test. 2008) 3 23 49
  4. Association of an asporin repeat polymorphism with ankylosing spondylitis in Han Chinese population: a case-control study. (PMID: 20144272) Liu D. … Zhang Y. (Clin Invest Med 2010) 3 23 49
  5. Identification and characterization of asporin. A novel member of the leucine-rich repeat protein family closely related to decorin and biglycan. (PMID: 11152692) Lorenzo P. … Heinegaard D. (J. Biol. Chem. 2001) 3 4 23

Products for ASPN Gene

Sources for ASPN Gene

Back to Top

Content