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ASPN asporin [ Homo sapiens (human) ]

Gene ID: 54829, updated on 17-Jun-2019

Summary

Official Symbol
ASPNprovided by HGNC
Official Full Name
asporinprovided by HGNC
Primary source
HGNC:HGNC:14872
See related
Ensembl:ENSG00000106819 MIM:608135
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]
Expression
Broad expression in gall bladder (RPKM 43.4), endometrium (RPKM 40.7) and 17 other tissues See more
Orthologs

Genomic context

See ASPN in Genome Data Viewer
Location:
9q22.31
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (92456205..92482506, 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 Neighboring gene microRNA 4670 Neighboring gene uncharacterized LOC100128361 Neighboring gene inositol-pentakisphosphate 2-kinase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

General gene information

Markers

Homology

Clone Names

  • FLJ20129

General protein information

Preferred Names
asporin
Names
asporin (LRR class 1)
asporin proteoglycan
periodontal ligament associated protein 1
small leucine-rich protein 1C

NCBI Reference Sequences (RefSeq)

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_023430.2 RefSeqGene

    Range
    5001..31299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001193335.2NP_001180264.1  asporin isoform 2 precursor

    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, AL137848, AY358329, BP292032
    UniProtKB/Swiss-Prot
    Q9BXN1
    Related
    ENSP00000364693.1, ENST00000375543.2
    Conserved Domains (4) summary
    smart00013
    Location:73103
    LRRNT; Leucine rich repeat N-terminal domain
    sd00033
    Location:83102
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12799
    Location:125165
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:104161
    LRR_8; Leucine rich repeat
  2. NM_017680.5NP_060150.4  asporin isoform 1 preproprotein

    See identical proteins and their annotated locations for 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, AL137848, AY358329, BC063114, BP292032
    UniProtKB/Swiss-Prot
    Q9BXN1
    UniProtKB/TrEMBL
    Q6P528
    Related
    ENSP00000499026.1, ENST00000651777.1
    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 ...
    sd00033
    Location:83102
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:104161
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    92456205..92482506 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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