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MATN1 matrilin 1 [ Homo sapiens (human) ]

Gene ID: 4146, updated on 5-Mar-2024

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
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Genomic context

See MATN1 in Genome Data Viewer
Location:
1p35.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (30711277..30723585, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (30561248..30573556, complement)
105.20220307 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 LOC105378618 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:30730647-30731414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:30805338-30806023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:30815051-30815718 Neighboring gene MPRA-validated peak152 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:30885131-30885632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:30885633-30886132 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:31000145-31001344 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6672 Neighboring gene MPRA-validated peak154 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_6678 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31090817-31092016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31114430-31114930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31122410-31123100 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31134880-31135811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31136257-31136758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 614 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31180709-31181209 Neighboring gene uncharacterized LOC124903888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 558 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31191909-31192484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 616 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 617 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31205119-31205624 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31205625-31206130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31206171-31206672 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31212057-31212616 Neighboring gene MATN1 antisense RNA 1 Neighboring gene uncharacterized LOC105378620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 620 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 622 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 623 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 625 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31223351-31223894 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31223895-31224436 Neighboring gene lysosomal protein transmembrane 5 Neighboring gene microRNA 4420

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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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

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.

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
    B2R7E3, P21941, Q5TBB9
    UniProtKB/TrEMBL
    B3KQU9
    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: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    30561248..30573556 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)