Matrilin-1

MATN1

Identifiers

MATN1, CMP, CRTM, matrilin 1, cartilage matrix protein, matrilin 1

External IDs

OMIM: 115437 MGI: 106591 HomoloGene: 1783 GeneCards: MATN1

Gene location (Human)

Chr.	Chromosome 1 (human)^[1]

Band	1p35.2	Start	30,711,277 bp^[1]
Band	1p35.2	End	30,723,585 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 4 (mouse)^[2]

Band	4 D2.2\|4 64.09 cM	Start	130,671,696 bp^[2]
Band	4 D2.2\|4 64.09 cM	End	130,682,786 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

tibia

trachea

internal globus pallidus

bone marrow

cervix

uterine tube

canal of the cervix

spinal cord

muscle tissue

occipital lobe

Top expressed in

occiput

occipital bone

splanchnocranium

thyroid cartilage

humerus

sphenoid bone

ilium

shoulder

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	extracellular matrix structural constituent protein binding calcium ion binding
Cellular component	extracellular region extracellular matrix collagen-containing extracellular matrix extracellular space
Biological process	extracellular matrix organization chondrocyte differentiation growth plate cartilage chondrocyte morphogenesis regulation of bone mineralization protein-containing complex assembly
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


4146


17180

Ensembl


ENSG00000162510


ENSMUSG00000040533

UniProt


P21941


P51942

RefSeq (mRNA)


NM_002379


NM_010769

RefSeq (protein)


NP_002370


NP_034899

Location (UCSC)

Chr 1: 30.71 – 30.72 Mb

Chr 4: 130.67 – 130.68 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Matrilin 1, cartilage matrix protein, also known as MATN1, is a matrilin protein which in humans is encoded by the MATN1 gene.^[5]^[6]^[7]

YouTube Encyclopedic

1/5
Views:
2 116
2 651
565
454
2 924

Transcription

Function

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.^[5] Three microsatellite polymorphisms in the gene, respectively consisting of 103 bp, 101 bp and 99 bp, have been linked to idiopathic scoliosis.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000162510 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000040533 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: MATN1 matrilin 1, cartilage matrix protein".
^ Jenkins RN, Osborne-Lawrence SL, Sinclair AK, Eddy RL, Byers MG, Shows TB, Duby AD (November 1990). "Structure and chromosomal location of the human gene encoding cartilage matrix protein". J. Biol. Chem. 265 (32): 19624–31. doi:10.1016/S0021-9258(17)45417-2. PMID 2246248.
^ Deák F, Piecha D, Bachrati C, Paulsson M, Kiss I (April 1997). "Primary structure and expression of matrilin-2, the closest relative of cartilage matrix protein within the von Willebrand factor type A-like module superfamily". J. Biol. Chem. 272 (14): 9268–74. doi:10.1074/jbc.272.14.9268. PMID 9083061.
^ Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR (2006). "Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis". Scoliosis. 1: 21. doi:10.1186/1748-7161-1-21. PMC 1769398. PMID 17176459.

From Wikipedia, the free encyclopedia

YouTube Encyclopedic

Transcription

Function

References

Further reading