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MATN1 matrilin 1 [ Homo sapiens (human) ]

Gene ID: 4146, updated on 21-Apr-2019

Summary

Official Symbol
MATN1provided by HGNC
Official Full Name
matrilin 1provided by HGNC
Primary source
HGNC:HGNC:6907
See related
Ensembl:ENSG00000162510 MIM:115437
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

Genomic context

See MATN1 in Genome Data Viewer
Location:
1p35.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (30711277..30723585, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31184124..31196432, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378617 Neighboring gene uncharacterized LOC105378618 Neighboring gene MATN1 antisense RNA 1 Neighboring gene uncharacterized LOC105378620 Neighboring gene microRNA 4420 Neighboring gene lysosomal protein transmembrane 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • ECM proteoglycans, organism-specific biosystem (from REACTOME)
    ECM proteoglycans, organism-specific biosystemProteoglycans are major components of the extracellular matrix. In cartilage the matrix constitutes more than 90% of tissue dry weight. Proteoglycans are proteins substituted with glycosaminoglycans ...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
extracellular matrix organization TAS
Traceable Author Statement
more info
 
protein-containing complex assembly TAS
Traceable Author Statement
more info
PubMed 
regulation of bone mineralization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
cartilage matrix protein
Names
matrilin 1, cartilage matrix protein

NCBI Reference Sequences (RefSeq)

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

  1. NG_027941.1 RefSeqGene

    Range
    5001..17309
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002379.3NP_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
    P21941
    Related
    ENSP00000362870.4, ENST00000373765.5
    Conserved Domains (1) summary
    cd01475
    Location:38261
    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. ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    30711277..30723585 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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