MATN1 matrilin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MATN1provided by HGNC
Official Full Name: matrilin 1provided by HGNC
Primary source: HGNC:HGNC:6907
See related: Ensembl:ENSG00000162510 MIM:115437; AllianceGenome:HGNC:6907
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: CMP; CRTM
Summary: This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 1p35.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (30711277..30723585, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (30561248..30573556, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (31184124..31196432, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We identified two candidate mutations in COL1A2 and MATN1, which might be affected by the main known mutation in B3GALT6. Our finding replicated a previously identified mutation in KIF22 to be potentially associated with spondyloepimetaphyseal dysplasia with joint laxity. We also show that our identified candidate mutation genes, COL1A2, MATN1 and KIF22, are in a direct biological interaction with B3GALT6.
Title: Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community.
polymorphisms associated with mandibular retrognathism
Title: Relationship between matrilin-1 gene polymorphisms and mandibular retrognathism.
Matrilin-1 is an inhibitor of neovascularization
Title: Matrilin-1 is an inhibitor of neovascularization.
this meta-analysis found an overall significant association of rs1149048 polymorphism with risk of AIS, especially in Asian population.
Title: The association of rs1149048 polymorphism in matrilin-1(MATN1) gene with adolescent idiopathic scoliosis susceptibility: a meta-analysis.
no significant difference in single nucleotide polymorphism between adolescent idiopathic scoliosis cases and controls
Title: Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI.
The A allele of single nucleotide polymorphism rs1065755 in the MATN1 gene is associated with adolescent idiopathic scoliosis.
Title: Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population.
we concluded that MATN1 SNP is not associated with either adolescent idiopathic scoliosis predisposition or curve severity in Japanese.
Title: Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population.
There is an association between matrilin-1 levels and curve progression in adolescent idiopathic scoliosis.
Title: [Decreased circulating matrilin-1 levels in adolescent idiopathic scoliosis].
Genotype GG of matrilin-1 gene is indicative of less bracing effectiveness in adolescent idiopathic scoliosis.
Title: [Association between matrilin-1 gene polymorphism and bracing effectiveness in adolescent idiopathic scoliosis girls].
Matrilin-1 A-domains have a role in cartilage ECM assembly
Title: Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

MATN1_2620 (e-PCR)
- UniSTS:280842

GDB:197115 (e-PCR)
- UniSTS:155927

D1S1348 (e-PCR)
- UniSTS:149545

STS-M55683 (e-PCR)
- UniSTS:24479

D1S112 (e-PCR)
- UniSTS:154569

MATN1 (e-PCR)
- UniSTS:503247

SGC35368 (e-PCR)
- UniSTS:21754

GDB:210803 (e-PCR)
- UniSTS:156154

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables extracellular matrix structural constituent	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in extracellular matrix organization	NAS Non-traceable Author Statement more info	PubMed
involved_in growth plate cartilage chondrocyte morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in protein-containing complex assembly	TAS Traceable Author Statement more info	PubMed
involved_in regulation of bone mineralization	IEA Inferred from Electronic Annotation more info

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	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
part_of matrilin complex	ISO Inferred from Sequence Orthology more info

General protein information

Go to the top of the page Help

Preferred Names: cartilage matrix protein

Names: matrilin 1, cartilage matrix protein

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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

NG_027941.1 RefSeqGene

Range

5001..17309

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002379.3 → NP_002370.1 cartilage matrix protein precursor

See identical proteins and their annotated locations for NP_002370.1

Status: REVIEWED

Source sequence(s)

AK312949, AL137857

Consensus CDS

CCDS336.1

UniProtKB/Swiss-Prot

B2R7E3, P21941, Q5TBB9

UniProtKB/TrEMBL

B3KQU9

Related

ENSP00000362870.4, ENST00000373765.5

Conserved Domains (1) summary

cd01475
Location:38 → 261

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. ...