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    ASPN asporin [ Homo sapiens (human) ]

    Gene ID: 54829, updated on 10-Dec-2024

    Summary

    Official Symbol
    ASPNprovided by HGNC
    Official Full Name
    asporinprovided by HGNC
    Primary source
    HGNC:HGNC:14872
    See related
    Ensembl:ENSG00000106819 MIM:608135; AllianceGenome:HGNC:14872
    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]
    Annotation information
    Annotation category: suggests misassembly
    Expression
    Broad expression in gall bladder (RPKM 43.4), endometrium (RPKM 40.7) and 17 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See ASPN in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92456205..92482506, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104622707..104649005, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95218487..95244788, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene centromere protein P Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109638 Neighboring gene osteoglycin Neighboring gene osteomodulin Neighboring gene extracellular matrix protein 2 Neighboring gene Sharpr-MPRA regulatory region 3268 Neighboring gene microRNA 4670 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr9:95320296-95321495 Neighboring gene uncharacterized LOC100128361 Neighboring gene inositol-pentakisphosphate 2-kinase

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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)

    NEW Try the new Transcript table

    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_001193335.3NP_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)
      NTIA01000042
      UniProtKB/TrEMBL
      B4E2Z7, Q5TBF2
      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_017680.6NP_060150.4  asporin isoform 1 preproprotein

      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)
      NTIA01000042
      UniProtKB/Swiss-Prot
      Q5TBF3, Q96K79, Q96LD0, Q9BXN1, Q9NXP3
      UniProtKB/TrEMBL
      A0AAG2UW46
      Related
      ENSP00000364694.3, ENST00000375544.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791788.1 Reference GRCh38.p14 PATCHES

      Range
      290934..317233 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      104622707..104649005 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)