ASPN - asporin Gene

Also Known as OS3; PLAP1; PLAP-1; SLRR1C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54829

About ASPN

Cytogenetic location: 9q22.31 Genomic coordinates (GRCh38): 9:92,456,205-92,482,506 (from NCBI)

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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ASPN Protein Structure

LRRNT

LRRNT: Leucine rich repeat N-terminal domain (74 - 101)

LRR_8

LRR_8: Leucine rich repeat (105 - 162)

LRR_8

LRR_8: Leucine rich repeat (172 - 220)

LRR_8

LRR_8: Leucine rich repeat (242 - 301)

  • 0
  • 100
  • 200
  • 300
  • 380 a.a.
Protein Preferred Names Protein Names

asporin

  • asporin (LRR class 1)

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
  • Lumbar Disc Disease

  • Intervertebral Disc Disorder

  • IDD

  • Lumbar Disc Herniation

  • Lumbar Disc Degeneration

  • Intervertebral Disc Disease, Susceptibility To

  • Lumbar Disc Herniation, Susceptibility To

  • Lumbar Disc Disease, Susceptibility To

  • Intervertebral Disc Degeneration

  • Discogenic Disease

  • Discogenic Disorder

  • Disorder Of Intervertebral Disc

  • Intervertebral Disk Degeneration

  • Intervertebral Disk Disease

  • Ldd

  • Ldh

  • Lumbar Disc Degeneration, Susceptibility To

  • Degeneration Of Lumbar Intervertebral Disc

  • Intervertebral Disk Displacement

Osteoarthritis
  • Osteoarthrosis

  • Degenerative Joint Disease

  • Hypertrophic Arthritis

  • Arthropathy

  • Degenerative Polyarthritis

  • Degenerative Arthritis

  • Osteoarthrosis And Allied Disorder

  • Arthritis, Degenerative

  • Oa

  • Osteoarthritis Deformans

  • Osteoarthrosis Deformans

  • Kashin-Beck Disease

Congenital Disorder Of Glycosylation, Type Id
  • CDG1D

  • Congenital Disorder Of Glycosylation Id

  • Congenital Disorder Of Glycosylation 1d

  • Alg3-Cdg

  • Cdg Id

  • Cdgid

  • Carbohydrate-Deficient Glycoprotein Syndrome, Type Iv, Formerly

  • Cdgs4, Formerly

  • Cdgs, Type Iv, Formerly

  • Cdg Syndrome Type Id

  • Cdg-Id

  • Carbohydrate Deficient Glycoprotein Syndrome Type Id

  • Congenital Disorder Of Glycosylation Type 1d

  • Congenital Disorder Of Glycosylation Type Id

  • Mannosyltransferase 6 Deficiency

  • Carbohydrate-Deficient Glycoprotein Syndrome Type Iv

  • Cdgs4

  • Glycosylation, Congenital Disorder Of, Type Id

Torticollis
  • Contracture Of Neck

  • Wry Neck

  • Wry Neck/Torticollis

Acute Tympanitis
  • Acute Myringitis

Tooth Ankylosis
  • Ankylosis Of Teeth

  • Ankylosis Of Tooth

Hypochondrogenesis
  • Achondrogenesis Type Ii/Hypochondrogenesis

Noonan Syndrome 3
  • NS3

  • Noonan Syndrome, Type 3

Bone Deterioration Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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