ASPN - asporin Gene
Also Known as OS3; PLAP1; PLAP-1; SLRR1C
Species: Homo sapiens
About ASPN
This gene has 4 transcripts (splice variants), 201 orthologues, 22 paralogues and is associated with 2 phenotypes. Broad expression in gall bladder (RPKM 43.4), endometrium (RPKM 40.7) and 17 other tissues.
Summary
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]
ASPN Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001193335.3 | NP_001180264.1 | asporin isoform 2 precursor |
| NM_017680.6 | NP_060150.4 | asporin isoform 1 preproprotein |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
19589127 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in bone mineralization |
IDA
IDA: Inferred from direct assay
|
19589127 | GOA |
| involved in negative regulation of transforming growth factor beta receptor signaling pathway |
IDA
IDA: Inferred from direct assay
|
17827158 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular matrix |
IDA
IDA: Inferred from direct assay
|
17827158 | GOA |
ASPN Protein Structure
LRRNT: Leucine rich repeat N-terminal domain (74 - 101)
LRR_8: Leucine rich repeat (105 - 162)
LRR_8: Leucine rich repeat (172 - 220)
LRR_8: Leucine rich repeat (242 - 301)
- 0
- 100
- 200
- 300
- 380 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
asporin |
|
Recombinant ASPN Proteins
| Cat. No. | 상품명 | Accession | Purity |
|---|---|---|---|
| HY-P72093 | ASPN Protein, Human (His-SUMO) | Q9BXN1 (D33-M380) | ≥ 90%, as determined by reducing SDS-PAGE. |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Intervertebral Disc Disease |
|
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| Osteoarthritis |
|
|
| Congenital Disorder Of Glycosylation, Type Id |
|
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| Torticollis |
|
|
| Acute Tympanitis |
|
|
| Tooth Ankylosis |
|
|
| Hypochondrogenesis |
|
|
| Noonan Syndrome 3 |
|
|
| Bone Deterioration Disease |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | ASPN | VGNC | VGNC:26222 |
| Felis catus | ASPN | VGNC | VGNC:59979 |
| Mus musculus | ASPN | MGD | MGI:1913945 |
| Canis familiaris | ASPN | VGNC | VGNC:38190 |
| Macaca mulatta | ASPN | VGNC | VGNC:70074 |
| Rattus norvegicus | ASPN | RGD | RGD:1549776 |
| Others | ASPN | NCBI |