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    MATN1 matrilin 1 [ Homo sapiens (human) ]

    Gene ID: 4146, updated on 2-Oct-2018

    Summary

    Official Symbol
    MATN1provided by HGNC
    Official Full Name
    matrilin 1provided by HGNC
    Primary source
    HGNC:HGNC:6907
    See related
    Ensembl:ENSG00000162510 MIM:115437; Vega:OTTHUMG00000003705
    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 Jun 15 11:32:44 2016

    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
     
    growth plate cartilage chondrocyte morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    collagen-containing extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    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, OTTHUMP00000003805, ENST00000373765.4, OTTHUMT00000010458
      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 details...Open this link in a new tab

    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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