Aspn asporin [Mus musculus (house mouse)] - Gene

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: human all
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Genomic context

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_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Periodontal ligament-associated protein-1 knockout mice regulate the differentiation of osteoclasts and osteoblasts through TGF-beta1/Smad signaling pathway.
Title: Periodontal ligament-associated protein-1 knockout mice regulate the differentiation of osteoclasts and osteoblasts through TGF-β1/Smad signaling pathway.
Periodontal ligament-associated protein-1 promotes osteoclastogenesis in mice by modulating TGF-beta1/Smad1 pathway.
Title: Periodontal ligament-associated protein-1 promotes osteoclastogenesis in mice by modulating TGF-β1/Smad1 pathway.
Mice Lacking PLAP-1/Asporin Show Alteration of Periodontal Ligament Structures and Acceleration of Bone Loss in Periodontitis.
Title: Mice Lacking PLAP-1/Asporin Show Alteration of Periodontal Ligament Structures and Acceleration of Bone Loss in Periodontitis.
ASPN Synergizes with HAPLN1 to Inhibit the Osteogenic Differentiation of Bone Marrow Mesenchymal Stromal Cells and Extracellular Matrix Mineralization of Osteoblasts.
Title: ASPN Synergizes with HAPLN1 to Inhibit the Osteogenic Differentiation of Bone Marrow Mesenchymal Stromal Cells and Extracellular Matrix Mineralization of Osteoblasts.
Periodontal ligament-associated protein-1 engages in teeth overeruption and periodontal fiber disorder following occlusal hypofunction.
Title: Periodontal ligament-associated protein-1 engages in teeth overeruption and periodontal fiber disorder following occlusal hypofunction.
Plap-1 lineage tracing and single-cell transcriptomics reveal cellular dynamics in the periodontal ligament.
Title: Plap-1 lineage tracing and single-cell transcriptomics reveal cellular dynamics in the periodontal ligament.
Asporin, an extracellular matrix protein, is a beneficial regulator of cardiac remodeling.
Title: Asporin, an extracellular matrix protein, is a beneficial regulator of cardiac remodeling.
Asporin Promotes TGF-beta-induced Lung Myofibroblast Differentiation by Facilitating Rab11-Dependent Recycling of TbetaRI.
Title: Asporin Promotes TGF-β-induced Lung Myofibroblast Differentiation by Facilitating Rab11-Dependent Recycling of TβRI.
Mice lacking PLAP-1/asporin counteracts high fat diet-induced metabolic disorder and alveolar bone loss by controlling adipose tissue expansion.
Title: Mice lacking PLAP-1/asporin counteracts high fat diet-induced metabolic disorder and alveolar bone loss by controlling adipose tissue expansion.
Data establish a role for ASPN as a critical MSC factor that extensively affects the tumor microenvironment and induces metastatic progression.
Title: Asporin Restricts Mesenchymal Stromal Cell Differentiation, Alters the Tumor Microenvironment, and Drives Metastatic Progression.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (5) 1 citation
Endonuclease-mediated (1)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology 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

Process	Evidence Code	Pubs
acts_upstream_of_or_within biomineral tissue development	IEA Inferred from Electronic Annotation more info
involved_in bone mineralization	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of tooth mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transforming growth factor beta receptor signaling pathway	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cell projection	ISO Inferred from Sequence Orthology more info
located_in collagen-containing extracellular matrix	HDA more info	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 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

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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)

NM_001172481.1 → NP_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:68 → 97

LRRNT; Leucine rich repeat N-terminal domain

cd00116
Location:139 → 333

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:77 → 96

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:98 → 155

LRR_8; Leucine rich repeat
NM_025711.3 → NP_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:68 → 97

LRRNT; Leucine rich repeat N-terminal domain

cd00116
Location:139 → 333

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:77 → 96

LRR_RI; leucine-rich repeat [structural motif]

pfam13855
Location:98 → 155

LRR_8; Leucine rich repeat