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Aspn asporin [ Mus musculus (house mouse) ]

Gene ID: 66695, updated on 2-Nov-2024

Summary

Official Symbol
Aspnprovided by MGI
Official Full Name
asporinprovided by MGI
Primary source
MGI:MGI:1913945
See related
Ensembl:ENSMUSG00000021388 AllianceGenome:MGI:1913945
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Plap1; Slrr1c; 4631401G09Rik
Summary
This gene encodes a member of the small leucine-rich proteoglycan family. The encoded protein is an extracellular matrix protein that modulates the transforming growth factor-beta signaling pathway, regulating cartilage matrix gene expression and cartilage formation. The protein plays a role in the pathology of osteoarthritis. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
Expression
Biased expression in limb E14.5 (RPKM 23.1), CNS E14 (RPKM 4.5) and 6 other tissues See more
Orthologs
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Genomic context

See Aspn in Genome Data Viewer
Location:
13 A5; 13 25.31 cM
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (49697919..49721041)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (49544443..49567565)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene centromere protein P Neighboring gene testis derived transcript 3, pseudogene Neighboring gene extracellular matrix protein 2, female organ and adipocyte specific Neighboring gene STARR-seq mESC enhancer starr_34480 Neighboring gene osteomodulin Neighboring gene osteoglycin

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (1) 
  • Targeted (5)  1 citation

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables calcium ion binding ISO
Inferred from Sequence Orthology
more info
 
enables calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables extracellular matrix structural constituent conferring compression resistance RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell projection ISO
Inferred from Sequence Orthology
more info
 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in extracellular matrix IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular matrix ISO
Inferred from Sequence Orthology
more info
 
located_in extracellular matrix ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 

General protein information

Preferred Names
asporin
Names
periodontal ligament-associated protein 1

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001172481.1NP_001165952.1  asporin preproprotein

    See identical proteins and their annotated locations for NP_001165952.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC123954, AC160978, BC034888
    Consensus CDS
    CCDS26503.1
    UniProtKB/Swiss-Prot
    Q99MQ4, Q9D6A2
    UniProtKB/TrEMBL
    A6H6K1
    Related
    ENSMUSP00000136728.2, ENSMUST00000177948.2
    Conserved Domains (4) summary
    smart00013
    Location:6897
    LRRNT; Leucine rich repeat N-terminal domain
    cd00116
    Location:139333
    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:7796
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:98155
    LRR_8; Leucine rich repeat
  2. NM_025711.3NP_079987.2  asporin preproprotein

    See identical proteins and their annotated locations for NP_079987.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AW106088, BC034888
    Consensus CDS
    CCDS26503.1
    UniProtKB/Swiss-Prot
    Q99MQ4, Q9D6A2
    UniProtKB/TrEMBL
    A6H6K1
    Related
    ENSMUSP00000021820.7, ENSMUST00000021820.14
    Conserved Domains (4) summary
    smart00013
    Location:6897
    LRRNT; Leucine rich repeat N-terminal domain
    cd00116
    Location:139333
    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:7796
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:98155
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000079.7 Reference GRCm39 C57BL/6J

    Range
    49697919..49721041
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)