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ASPN asporin [ Homo sapiens (human) ]

Gene ID: 54829, updated on 13-Jan-2015
Official Symbol
ASPNprovided by HGNC
Official Full Name
asporinprovided by HGNC
Primary source
HGNC:HGNC:14872
Locus tag
RP11-77D6.3
See related
Ensembl:ENSG00000106819; HPRD:16288; MIM:608135; Vega:OTTHUMG00000020227
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
OS3; PLAP1; PLAP-1; SLRR1C
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]
Orthologs
See ASPN in Epigenomics, MapViewer
Location:
9q22
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 9 NC_000009.12 (92456205..92482562, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95218487..95244844, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene centromere protein P Neighboring gene osteoglycin Neighboring gene osteomodulin Neighboring gene extracellular matrix protein 2, female organ and adipocyte specific Neighboring gene microRNA 4670 Neighboring gene uncharacterized LOC100128361 Neighboring gene inositol 1,3,4,5,6-pentakisphosphate 2-kinase

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

Markers

Homology

Clone Names

  • FLJ20129

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
collagen binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bone mineralization IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of tooth mineralization ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transforming growth factor beta receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
proteinaceous extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
asporin
Names
asporin
asporin proteoglycan
asporin (LRR class 1)
small leucine-rich protein 1C
periodontal ligament associated protein 1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023430.1 

    Range
    5001..31355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193335.1NP_001180264.1  asporin isoform 2 preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), which represents the D13 allele, lacks two alternate exons that result in a frameshift in the 3' coding region, compared to variant 1. The encoded isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AI741321, AK027359, AY358329, BP292032
    UniProtKB/Swiss-Prot
    Q9BXN1
    Related
    ENSP00000364693, OTTHUMP00000021658, ENST00000375543, OTTHUMT00000053095
    Conserved Domains (3) summary
    smart00013
    Location:73103
    LRRNT; Leucine rich repeat N-terminal domain
    pfam12799
    Location:125165
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:104161
    LRR_8; Leucine rich repeat
  2. NM_017680.4NP_060150.4  asporin isoform 1 preproprotein

    See proteins identical to NP_060150.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), which represents the D13 allele, is the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AI741321, AY358329, BC063114, BP292032
    UniProtKB/TrEMBL
    Q6P528
    UniProtKB/Swiss-Prot
    Q9BXN1
    Related
    ENSP00000364694, OTTHUMP00000021657, ENST00000375544, OTTHUMT00000053094
    Conserved Domains (4) summary
    smart00013
    Location:73103
    LRRNT; Leucine rich repeat N-terminal domain
    cd00116
    Location:142339
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    pfam12799
    Location:104142
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:104161
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000009.12 

    Range
    92456205..92482562
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 

    Range
    95364907..95391264
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000141.1 

    Range
    64895929..64922284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)