Matn1 matrilin 1, cartilage matrix protein [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Matn1provided by MGI
Official Full Name: matrilin 1, cartilage matrix proteinprovided by MGI
Primary source: MGI:MGI:106591
See related: Ensembl:ENSMUSG00000040533 AllianceGenome:MGI:106591
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CMP; Crtm; Mat1; matrilin-1
Summary: Predicted to enable calcium ion binding activity. Predicted to be an extracellular matrix structural constituent. Acts upstream of or within growth plate cartilage chondrocyte morphogenesis and regulation of bone mineralization. Located in extracellular matrix. Is expressed in several structures, including cartilage; heart; limb; skeleton; and urinary system. Orthologous to human MATN1 (matrilin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward limb E14.5 (RPKM 171.3) See more
Orthologs: human all
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Genomic context

Location:: 4 D2.2; 4 64.09 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (130671696..130682787)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (130944385..130955476)

Chromosome 4 - NC_000070.7 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?

Results provide evidence that Matn1 plays a protective role in cartilage degeneration under altered mechanical environment.
Title: Deficient Mechanical Activation of Anabolic Transcripts and Post-Traumatic Cartilage Degeneration in Matrilin-1 Knockout Mice.
Matrilin-1 is an inhibitor of neovascularization
Title: Matrilin-1 is an inhibitor of neovascularization.
Secretion of matrilin 3 V194D mutant protein is not dependent on hetero-oligomerization with matrilin 1.
Title: Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation.
Transgenic mice expressing mutant (D469Delta) cartilage oligomeric matrix protein showed a slight gender specific growth retardation and both, tibial growth plate and sternum abnormalities.
Title: Transgenic mice expressing D469Delta mutated cartilage oligomeric matrix protein (COMP) show growth plate abnormalities and sternal malformations.
Matrilin-1 and matrilin-3 modulate collagen fibrillogenesis in cartilage and show that biochemical compensation might exist between matrilins, evidenced by Matn3 deficiency.
Title: Abnormal collagen fibrils in cartilage of matrilin-1/matrilin-3-deficient mice.
The chondrocytes of the presumptive articular surface therefore appear to arise directly from a subpopulation of early chondrocytes that do not activate matrilin-1 expression rather than by redifferentiation from the flattened cells of the interzone.
Title: Lineage tracing using matrilin-1 gene expression reveals that articular chondrocytes exist as the joint interzone forms.
Expression of matrilin-1 during maturation of mouse skeletal tissues
Title: Expression of matrilins during maturation of mouse skeletal tissues.
Data show that the cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita.
Title: The cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Matn1 (e-PCR), detects polymorphism
- UniSTS:469808

U35035 (e-PCR)
- UniSTS:178548

Matn1 (e-PCR), detects polymorphism
- UniSTS:143831

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within growth plate cartilage chondrocyte morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of bone mineralization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in collagen-containing extracellular matrix	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cartilage matrix protein

Names: matrilin 1, cartilage matrix 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_010769.2 → NP_034899.2 cartilage matrix protein precursor

See identical proteins and their annotated locations for NP_034899.2

Status: VALIDATED

Source sequence(s)

AK014342, AV020141, BC047140

Consensus CDS

CCDS18713.1

UniProtKB/Swiss-Prot

P51942, Q80VN5

Related

ENSMUSP00000099636.4, ENSMUST00000102576.4

Conserved Domains (2) summary

cd01475
Location:42 → 265

vWA_Matrilin; VWA_Matrilin: In cartilaginous plate, extracellular matrix molecules mediate cell-matrix and matrix-matrix interactions thereby providing tissue integrity. Some members of the matrilin family are expressed specifically in developing cartilage rudiments. ...

cl00057
Location:276 → 499

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...