Seroatlas · Human Serome Atlas

ASPN

Asporin

Also known as: ASPN_HUMAN, FLJ20129, PLAP-1, SLRR1C

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9BXN1
Gene: ASPN
Ensembl: ENSG00000106819
Chromosome: 9
Canonical length: 380 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location: Nucleoplasm,Cytosol
Secretome location: Secreted to extracellular matrix

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

380 residues, UniProt reviewed canonical sequence.

>Q9BXN1|ASPN
     1  MKEYVLLLFL ALCSAKPFFS PSHIALKNMM LKDMEDTDDD DDDDDDDDDD DEDNSLFPTR
    61  EPRSHFFPFD LFPMCPFGCQ CYSRVVHCSD LGLTSVPTNI PFDTRMLDLQ NNKIKEIKEN
   121  DFKGLTSLYG LILNNNKLTK IHPKAFLTTK KLRRLYLSHN QLSEIPLNLP KSLAELRIHE
   181  NKVKKIQKDT FKGMNALHVL EMSANPLDNN GIEPGAFEGV TVFHIRIAEA KLTSVPKGLP
   241  PTLLELHLDY NKISTVELED FKRYKELQRL GLGNNKITDI ENGSLANIPR VREIHLENNK
   301  LKKIPSGLPE LKYLQIIFLH SNSIARVGVN DFCPTVPKMK KSLYSAISLF NNPVKYWEMQ
   361  PATFRCVLSR MSVQLGNFGM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASPN can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Secreted
Secreted: Yes
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.32
Highest tissue expression: 129 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 129 nTPM
smooth muscle: 103 nTPM
heart muscle: 89 nTPM
endometrium: 65 nTPM
gallbladder: 62 nTPM
cervix: 38 nTPM

Single-cell type

hepatic stellate cells: 181 nCPM
epicardial cells: 127 nCPM
fibro-adipogenic progenitors: 87 nCPM
pericytes: 80 nCPM
fibroblasts: 70 nCPM
basal keratinocytes: 68 nCPM

Immune cell

basophil: 1.8 nTPM
non-classical monocyte: 0.3 nTPM
eosinophil: 0.2 nTPM
intermediate monocyte: 0.1 nTPM
memory B-cell: 0.1 nTPM
neutrophil: 0.1 nTPM

Brain region

cerebellum: 4.9 nTPM
thalamus: 4.1 nTPM
white matter: 3.9 nTPM
basal ganglia: 3.7 nTPM
pons: 3.7 nTPM
cerebral cortex: 3.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASPN.

Disease | AllUniProt

Conditions ASPN is implicated in, by any mechanism.

Osteoarthritis 3 (OS3) MIM:607850
Intervertebral disc disease (IDD) MIM:603932

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.18
gnomAD pLI: 0
gnomAD missense Z: 0.75

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

calcium ion binding

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ASPN in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASPN as an antibody target. Whether an autoantibody or antibody against ASPN could matter depends on whether native ASPN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASPN is annotated as secreted, so native ASPN circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label ASPN as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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