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MMP13 matrix metallopeptidase 13 [ Homo sapiens (human) ]

Gene ID: 4322, updated on 11-Oct-2020

Summary

Official Symbol
MMP13provided by HGNC
Official Full Name
matrix metallopeptidase 13provided by HGNC
Primary source
HGNC:HGNC:7159
See related
Ensembl:ENSG00000137745 MIM:600108
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
CLG3; MDST; MANDP1; MMP-13
Summary
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. This protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See MMP13 in Genome Data Viewer
Location:
11q22.2
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (102942995..102955732, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102813721..102826463, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene bolA family member 3 pseudogene 1 Neighboring gene RNA, U7 small nuclear 159 pseudogene Neighboring gene ribosomal protein L21 pseudogene 96 Neighboring gene defective in cullin neddylation 1 domain containing 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
GeneReviews: Not available
Metaphyseal chondrodysplasia, Spahr type
MedGen: C0432225 OMIM: 250400 GeneReviews: Not available
Compare labs
Spondyloepimetaphyseal dysplasia, Missouri type
MedGen: C1865832 OMIM: 602111 GeneReviews: Not available
Compare labs

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of matrix metallopeptidase 13 (collagenase 3; MMP13) by siRNA has both activating and inhibiting activities on HIV-1 replication in HeLa P4/R5 cells, suggesting a regulatory role in HIV replication PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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 IDA
Inferred from Direct Assay
more info
PubMed 
collagen binding IDA
Inferred from Direct Assay
more info
PubMed 
endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metalloendopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
metalloendopeptidase activity TAS
Traceable Author Statement
more info
 
zinc ion binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
bone mineralization IEA
Inferred from Electronic Annotation
more info
 
bone morphogenesis IDA
Inferred from Direct Assay
more info
PubMed 
cellular protein metabolic process IEA
Inferred from Electronic Annotation
more info
 
collagen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
collagen catabolic process TAS
Traceable Author Statement
more info
 
endochondral ossification IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
extracellular matrix disassembly TAS
Traceable Author Statement
more info
 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth plate cartilage development IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
response to amyloid-beta TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
collagenase 3
Names
matrix metalloproteinase 13 (collagenase 3)
NP_002418.1

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_021404.1 RefSeqGene

    Range
    5003..17740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002427.4NP_002418.1  collagenase 3 preproprotein

    See identical proteins and their annotated locations for NP_002418.1

    Status: REVIEWED

    Source sequence(s)
    AK222748, AK292211, CA413743, X75308
    Consensus CDS
    CCDS8324.1
    UniProtKB/Swiss-Prot
    P45452
    UniProtKB/TrEMBL
    Q53H33
    Related
    ENSP00000260302.3, ENST00000260302.8
    Conserved Domains (3) summary
    cd00094
    Location:281471
    HX; Hemopexin-like repeats.; Hemopexin is a heme-binding protein that transports heme to the liver. Hemopexin-like repeats occur in vitronectin and some matrix metalloproteinases family (matrixins). The HX repeats of some matrixins bind tissue inhibitor of ...
    pfam00413
    Location:112267
    Peptidase_M10; Matrixin
    pfam01471
    Location:3291
    PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    102942995..102955732 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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