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MMP24 matrix metallopeptidase 24 [ Homo sapiens (human) ]

Gene ID: 10893, updated on 1-Jun-2020

Summary

Official Symbol
MMP24provided by HGNC
Official Full Name
matrix metallopeptidase 24provided by HGNC
Primary source
HGNC:HGNC:7172
See related
Ensembl:ENSG00000125966 MIM:604871
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
MMP25; MMP-24; MT5MMP; MTMMP5; MT-MMP5; MT5-MMP; MT-MMP 5
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. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). The gene has previously been referred to as MMP25 but has been renamed matrix metallopeptidase 24 (MMP24). [provided by RefSeq, Oct 2019]
Expression
Broad expression in kidney (RPKM 9.9), brain (RPKM 8.1) and 25 other tissues See more
Orthologs

Genomic context

See MMP24 in Genome Data Viewer
Location:
20q11.22
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (35226690..35276998)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (33814539..33864804)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene MMP24-AS1-EDEM2 readthrough Neighboring gene protein C receptor Neighboring gene RNA, 5S ribosomal pseudogene 483 Neighboring gene metallothionein 1 pseudogene 3 Neighboring gene MMP24 opposite strand Neighboring gene FAM83C antisense RNA 1 Neighboring gene eukaryotic translation initiation factor 6 Neighboring gene family with sequence similarity 83 member C

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

NHGRI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.
NHGRI GWA Catalog

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
cadherin binding IEA
Inferred from Electronic Annotation
more info
 
enzyme activator activity TAS
Traceable Author Statement
more info
PubMed 
metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
metalloendopeptidase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-cell adhesion mediated by cadherin ISS
Inferred from Sequence or Structural Similarity
more info
 
cell-cell adhesion via plasma-membrane adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
detection of temperature stimulus involved in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
extracellular matrix organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
glial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
neuronal stem cell population maintenance ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
proteolysis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular matrix IEA
Inferred from Electronic Annotation
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-Golgi network membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
matrix metalloproteinase-24
Names
matrix metallopeptidase 24 (membrane-inserted)
matrix metalloproteinase 24 (membrane-inserted)
membrane-type 5 matrix metalloproteinase
membrane-type matrix metalloproteinase 5

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.

mRNA and Protein(s)

  1. NM_006690.4NP_006681.1  matrix metalloproteinase-24 preproprotein

    See identical proteins and their annotated locations for NP_006681.1

    Status: REVIEWED

    Source sequence(s)
    AB021227, AL121753, BC047614, R60687
    Consensus CDS
    CCDS46593.1
    UniProtKB/Swiss-Prot
    Q9Y5R2
    UniProtKB/TrEMBL
    Q86VV6
    Related
    ENSP00000246186.6, ENST00000246186.8
    Conserved Domains (4) summary
    cd00094
    Location:377569
    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:162327
    Peptidase_M10; Matrixin
    pfam01471
    Location:82134
    PG_binding_1; Putative peptidoglycan binding domain
    pfam11857
    Location:575645
    DUF3377; Domain of unknown function (DUF3377)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    35226690..35276998
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528500.2XP_011526802.1  matrix metalloproteinase-24 isoform X2

    Conserved Domains (5) summary
    cd04278
    Location:162327
    ZnMc_MMP; Zinc-dependent metalloprotease, matrix metalloproteinase (MMP) sub-family. MMPs are responsible for a great deal of pericellular proteolysis of extracellular matrix and cell surface molecules, playing crucial roles in morphogenesis, cell fate ...
    pfam00413
    Location:162327
    Peptidase_M10; Matrixin
    pfam01471
    Location:82134
    PG_binding_1; Putative peptidoglycan binding domain
    pfam11857
    Location:486556
    DUF3377; Domain of unknown function (DUF3377)
    cl02471
    Location:377479
    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 ...
  2. XM_017027597.1XP_016883086.1  matrix metalloproteinase-24 isoform X1

  3. XM_017027598.1XP_016883087.1  matrix metalloproteinase-24 isoform X3

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