MMP24 matrix metallopeptidase 24 (membrane-inserted) [Homo sapiens] - Gene

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Summary

Official Symbol: MMP24provided by HGNC
Official Full Name: matrix metallopeptidase 24 (membrane-inserted)provided by HGNC
Primary source: HGNC:7172
Locus tag: RP4-614O4.10-001
See related: Ensembl:ENSG00000125966; HPRD:05338; MIM:604871; Vega:OTTHUMG00000032330
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; MT-MMP5; MT5-MMP
Summary: Proteins of the matrix metalloproteinase (MMP) 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. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 by cleavage. The gene has previously been referred to as MMP25 but has been renamed MMP24. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 20q11.2

Sequence :: Chromosome: 20; NC_000020.10 (33814539..33864804)

See MMP24 in Epigenomics, MapViewer

Chromosome 20 - NC_000020.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Interferon gamma receptor 2 gene variants are associated with liver fibrosis in patients with chronic hepatitis C infection.
MMP-24 gene silencing by RNAi can suppress the invasiveness of ovarian cancer SKOV(3) cells in vitro.
Title: [Inhibitory effects of RNA interference on MMP-24 expression and invasiveness of ovarian cancer SKOV(3) cells].
These results suggest more than one human MT5-MMP transcript may exist in the central nervous system.
Title: Identification of a novel human MT5-MMP transcript variant in multipotent NT2 cells.
MT5-MMP is expressed in normal human endometrium and there is enhanced exprestion in endometrium from patients with entometriosis with strongest signal in epithelial cells.
Title: Expression of membrane-type 5 matrix metalloproteinase in human endometrium and endometriosis.
MT5-MMP retrieval to the plasma membrane is regulated by Mint-3 by binding to its carboxyl end motif EWV
Title: Mint-3 regulates the retrieval of the internalized membrane-type matrix metalloproteinase, MT5-MMP, to the plasma membrane by binding to its carboxyl end motif EWV.
down-regulation of most MT-MMPs is typical for prostate carcinoma; seems to occur mainly in epithelial cells
Title: mRNA expression of the five membrane-type matrix metalloproteinases MT1-MT5 in human prostatic cell lines and their down-regulation in human malignant prostatic tissue.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Many sequence variants affecting diversity of adult human height.

Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
Q9Y5R2	Q15726	KISS1		HPRD	PubMed

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
enzyme activator activity	TAS Traceable Author Statement more info	PubMed
metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
peptidase activity	IEA Inferred from Electronic Annotation more info
zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
metabolic process	IEA Inferred from Electronic Annotation more info
positive regulation of catalytic activity	TAS Traceable Author Statement more info	PubMed
proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
integral to plasma membrane	TAS Traceable Author Statement more info	PubMed
plasma membrane	IEA Inferred from Electronic Annotation more info
proteinaceous extracellular matrix	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: matrix metalloproteinase-24

Names: matrix metalloproteinase-24; MMP-24; MT5MMP; MTMMP5; MT-MMP 5; membrane-type 5 matrix metalloproteinase; membrane-type matrix metalloproteinase 5; membrane-type-5 matrix metalloproteinase; matrix metalloproteinase 24 (membrane-inserted)

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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)

NM_006690.3 → NP_006681.1 matrix metalloproteinase-24 preproprotein

Status: REVIEWED

Source sequence(s)

AB021227, BC047614, R60687

Consensus CDS

CCDS46593.1

UniProtKB/TrEMBL

Q86VV6

UniProtKB/Swiss-Prot

Q9Y5R2

Related

ENSP00000246186, OTTHUMP00000206098, ENST00000246186, OTTHUMT00000078851

Conserved Domains (4) summary

cd00094
Location:377 – 569
Blast Score: 532

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 ...

cd04278
Location:162 – 327
Blast Score: 613

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 ...

pfam11857
Location:573 – 645
Blast Score: 334

DUF3377; Domain of unknown function (DUF3377)

cl15437
Location:82 – 134
Blast Score: 128

PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000020.10 Reference GRCh37.p5 Primary Assembly

Range

33814539..33864804

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000152.1 Alternate HuRef

Range

30592010..30642227

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL121753.32	CAX12722.1
genomic	CH471077.2	EAW76222.1
mRNA	AB021227.1	BAA82967.1
mRNA	AF131284.1	AAD42962.1
mRNA	BC047614.1	AAH47614.1
mRNA	DQ300264.1	ABC17785.1
mRNA	R60687.1	None
other-genetic	BC172450.1	AAI72450.1

Protein Accession	Links
Protein Accession	GenePept Link	UniProtKB Link
Q2PW48	GenPept	UniProtKB/TrEMBL:Q2PW48
Q86VV6	GenPept	UniProtKB/TrEMBL:Q86VV6
Q9Y5R2.1	GenPept	UniProtKB/Swiss-Prot:Q9Y5R2