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Protein

Asporin

Gene

ASPN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.By similarity2 Publications

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • protein kinase inhibitor activity Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Biomineralization

Keywords - Ligandi

Calcium

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106819-MONOMER.
ReactomeiR-HSA-3000178. ECM proteoglycans.

Names & Taxonomyi

Protein namesi
Recommended name:
Asporin
Alternative name(s):
Periodontal ligament-associated protein 1
Short name:
PLAP-1
Gene namesi
Name:ASPN
Synonyms:PLAP1, SLRR1C
ORF Names:UNQ215/PRO241
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

HGNCiHGNC:14872. ASPN.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: GO_Central
  • proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Osteoarthritis 3 (OS3)
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.
Disease descriptionA 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.
See also OMIM:607850
Intervertebral disc disease (IDD)1 Publication
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).1 Publication
Disease descriptionA common musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain.
See also OMIM:603932

Organism-specific databases

DisGeNETi54829.
MalaCardsiASPN.
MIMi603932. phenotype.
607850. phenotype.
OpenTargetsiENSG00000106819.
PharmGKBiPA25057.

Polymorphism and mutation databases

BioMutaiASPN.
DMDMi209572589.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 14Sequence analysisAdd BLAST14
PropeptideiPRO_000003272715 – 32Sequence analysisAdd BLAST18
ChainiPRO_000003272833 – 380AsporinAdd BLAST348

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi55O-linked (GalNAc...)1 Publication1
Disulfide bondi75 ↔ 811 Publication
Disulfide bondi79 ↔ 881 Publication
Glycosylationi282N-linked (GlcNAc...)2 Publications1
Disulfide bondi333 ↔ 3661 Publication

Post-translational modificationi

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.
The N-linked glycan at Asn-282 is composed of variable structures of GlcNAc, mannose, fucose, HexNAc and hexose.2 Publications

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiQ9BXN1.
PeptideAtlasiQ9BXN1.
PRIDEiQ9BXN1.

PTM databases

iPTMnetiQ9BXN1.
PhosphoSitePlusiQ9BXN1.

Expressioni

Tissue specificityi

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.1 Publication

Inductioni

By TGFB1.1 Publication

Gene expression databases

BgeeiENSG00000106819.
CleanExiHS_ASPN.
ExpressionAtlasiQ9BXN1. baseline and differential.
GenevisibleiQ9BXN1. HS.

Organism-specific databases

HPAiHPA008435.
HPA024230.

Interactioni

Subunit structurei

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.By similarity1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000364694.

Structurei

3D structure databases

ProteinModelPortaliQ9BXN1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini66 – 102LRRNTAdd BLAST37
Repeati103 – 124LRR 1Add BLAST22
Repeati127 – 148LRR 2Add BLAST22
Repeati151 – 173LRR 3Add BLAST23
Repeati174 – 193LRR 4Add BLAST20
Repeati196 – 219LRR 5Add BLAST24
Repeati242 – 263LRR 6Add BLAST22
Repeati266 – 287LRR 7Add BLAST22
Repeati290 – 312LRR 8Add BLAST23
Repeati313 – 334LRR 9Add BLAST22
Repeati335 – 357LRR 10Add BLAST23
Repeati358 – 380LRR 11Add BLAST23

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni166 – 212Interaction with TGFB1By similarityAdd BLAST47

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi35 – 53Poly-AspAdd BLAST19
Compositional biasi75 – 88Cys-richAdd BLAST14

Domaini

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.By similarity1 Publication

Sequence similaritiesi

Contains 11 LRR (leucine-rich) repeats.Curated
Contains 1 LRRNT domain.Curated

Keywords - Domaini

Leucine-rich repeat, Repeat, Signal

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118969.
HOVERGENiHBG016052.
InParanoidiQ9BXN1.
KOiK08120.
OMAiDFIRYKN.
OrthoDBiEOG091G044B.
PhylomeDBiQ9BXN1.
TreeFamiTF334562.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR028548. Asporin.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
IPR016352. SLRP_I_decor/aspor/byglycan.
[Graphical view]
PANTHERiPTHR24369:SF10. PTHR24369:SF10. 1 hit.
PfamiPF13855. LRR_8. 2 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
PIRSFiPIRSF002490. SLRP_I. 1 hit.
SMARTiSM00369. LRR_TYP. 7 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 7 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9BXN1-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKEYVLLLFL ALCSAKPFFS PSHIALKNMM LKDMEDTDDD DDDDDDDDDD
60 70 80 90 100
DEDNSLFPTR EPRSHFFPFD LFPMCPFGCQ CYSRVVHCSD LGLTSVPTNI
110 120 130 140 150
PFDTRMLDLQ NNKIKEIKEN DFKGLTSLYG LILNNNKLTK IHPKAFLTTK
160 170 180 190 200
KLRRLYLSHN QLSEIPLNLP KSLAELRIHE NKVKKIQKDT FKGMNALHVL
210 220 230 240 250
EMSANPLDNN GIEPGAFEGV TVFHIRIAEA KLTSVPKGLP PTLLELHLDY
260 270 280 290 300
NKISTVELED FKRYKELQRL GLGNNKITDI ENGSLANIPR VREIHLENNK
310 320 330 340 350
LKKIPSGLPE LKYLQIIFLH SNSIARVGVN DFCPTVPKMK KSLYSAISLF
360 370 380
NNPVKYWEMQ PATFRCVLSR MSVQLGNFGM
Length:380
Mass (Da):43,417
Last modified:October 14, 2008 - v2
Checksum:i2746A977FDCEBA5F
GO

Sequence cautioni

The sequence BAA90967 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti238 – 243GLPPTL → DNLPSF in BAB55060 (PubMed:14702039).Curated6

Polymorphismi

The poly-Asp region of ASPN is polymorphic and ranges at least from 11 to 17 Asp (PubMed:11152692).1 Publication

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF316824 mRNA. Translation: AAK35161.1.
AY029191 mRNA. Translation: AAK31800.1.
AK000136 mRNA. Translation: BAA90967.1. Different initiation.
AK027359 mRNA. Translation: BAB55060.1.
AY358329 mRNA. Translation: AAQ88695.1.
AL137848 Genomic DNA. Translation: CAI16697.1.
CH471089 Genomic DNA. Translation: EAW62822.1.
RefSeqiNP_001180264.1. NM_001193335.1.
NP_060150.4. NM_017680.4.
UniGeneiHs.435655.

Genome annotation databases

EnsembliENST00000375544; ENSP00000364694; ENSG00000106819.
GeneIDi54829.
KEGGihsa:54829.
UCSCiuc004ase.3. human.

Keywords - Coding sequence diversityi

Polymorphism, Triplet repeat expansion

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF316824 mRNA. Translation: AAK35161.1.
AY029191 mRNA. Translation: AAK31800.1.
AK000136 mRNA. Translation: BAA90967.1. Different initiation.
AK027359 mRNA. Translation: BAB55060.1.
AY358329 mRNA. Translation: AAQ88695.1.
AL137848 Genomic DNA. Translation: CAI16697.1.
CH471089 Genomic DNA. Translation: EAW62822.1.
RefSeqiNP_001180264.1. NM_001193335.1.
NP_060150.4. NM_017680.4.
UniGeneiHs.435655.

3D structure databases

ProteinModelPortaliQ9BXN1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000364694.

PTM databases

iPTMnetiQ9BXN1.
PhosphoSitePlusiQ9BXN1.

Polymorphism and mutation databases

BioMutaiASPN.
DMDMi209572589.

Proteomic databases

PaxDbiQ9BXN1.
PeptideAtlasiQ9BXN1.
PRIDEiQ9BXN1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375544; ENSP00000364694; ENSG00000106819.
GeneIDi54829.
KEGGihsa:54829.
UCSCiuc004ase.3. human.

Organism-specific databases

CTDi54829.
DisGeNETi54829.
GeneCardsiASPN.
HGNCiHGNC:14872. ASPN.
HPAiHPA008435.
HPA024230.
MalaCardsiASPN.
MIMi603932. phenotype.
607850. phenotype.
608135. gene.
neXtProtiNX_Q9BXN1.
OpenTargetsiENSG00000106819.
PharmGKBiPA25057.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0619. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00760000118969.
HOVERGENiHBG016052.
InParanoidiQ9BXN1.
KOiK08120.
OMAiDFIRYKN.
OrthoDBiEOG091G044B.
PhylomeDBiQ9BXN1.
TreeFamiTF334562.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000106819-MONOMER.
ReactomeiR-HSA-3000178. ECM proteoglycans.

Miscellaneous databases

GeneWikiiAsporin.
GenomeRNAii54829.
PROiQ9BXN1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000106819.
CleanExiHS_ASPN.
ExpressionAtlasiQ9BXN1. baseline and differential.
GenevisibleiQ9BXN1. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR028548. Asporin.
IPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
IPR003591. Leu-rich_rpt_typical-subtyp.
IPR000372. LRRNT.
IPR016352. SLRP_I_decor/aspor/byglycan.
[Graphical view]
PANTHERiPTHR24369:SF10. PTHR24369:SF10. 1 hit.
PfamiPF13855. LRR_8. 2 hits.
PF01462. LRRNT. 1 hit.
[Graphical view]
PIRSFiPIRSF002490. SLRP_I. 1 hit.
SMARTiSM00369. LRR_TYP. 7 hits.
SM00013. LRRNT. 1 hit.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 7 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiASPN_HUMAN
AccessioniPrimary (citable) accession number: Q9BXN1
Secondary accession number(s): Q5TBF3
, Q96K79, Q96LD0, Q9NXP3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 20, 2002
Last sequence update: October 14, 2008
Last modified: November 30, 2016
This is version 149 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.