MMP8 matrix metallopeptidase 8 (neutrophil collagenase) [Homo sapiens] - Gene

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Summary

Official Symbol: MMP8provided by HGNC
Official Full Name: matrix metallopeptidase 8 (neutrophil collagenase)provided by HGNC
Primary source: HGNC:7175
See related: Ensembl:ENSG00000118113; HPRD:00385; MIM:120355; Vega:OTTHUMG00000167587
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: HNC; CLG1; MMP-8; PMNL-CL
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 enzyme encoded by this gene is stored in secondary granules within neutrophils and is activated by autolytic cleavage. Its function is degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 11q22.3

Sequence :: Chromosome: 11; NC_000011.9 (102582526..102595685, complement)

See MMP8 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 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?

Although none of the investigated SNPs in the MMP8 gene was individually associated with periodontitis, specific haplotype showed association with clinical manifestation of chronic periodontitis in a Czech population.
Title: Matrix metalloproteinase 8 (MMP8) gene polymorphisms in chronic periodontitis.
Multivariate logistic regression analysis with adjustment for age, gender and smoking indicated that increased risks of aggressive periodontitis and chronic periodontitis were associated with the -799 T allele of matrix metalloproteinase-8.
Title: MMP-8 -799 C>T genetic polymorphism is associated with the susceptibility to chronic and aggressive periodontitis in Taiwanese.
MMP-8 promoter -381A/G and -799C/T gene polymorphisms could be risk factors for carotid atherosclerosis.
Title: Association of MMP-8 promoter gene polymorphisms with carotid atherosclerosis: preliminary study.
Finding of this study indicates an influence of MMP8 gene variation on melanoma susceptibility.
Title: Association of MMP8 gene variation with an increased risk of malignant melanoma.
The allele and genotype frequencies of MMP8 rs11225395 were not associated with the development of gastric cancer development and lymph node metastasis.
Title: [Study on association between single nucleotide polymorphisms of MMP7, MMP8, MMP9 genes and development of gastric cancer and lymph node metastasis].
Data show that higher MMP-8 and active MMP-9 levels at 48 hours of disease onset are associated with a longer duration of mechanical ventilation and fewer ventilator-free days among pediatric patients.
Title: Early elevation of matrix metalloproteinase-8 and -9 in pediatric ARDS is associated with an increased risk of prolonged mechanical ventilation.
genetic variations are associated with increased risk of ulcerative colitis in Caucasians of New Zealand
Title: Genetic variations in matrix metalloproteinases may be associated with increased risk of ulcerative colitis.
MMP-3, MMP-8, and MMP-9 levels were significantly different between patients with Hyper-IgE syndrome and control subjects and might contribute to some of the characteristic features of Hyper-IgE syndrome
Title: Plasma metalloproteinase levels are dysregulated in signal transducer and activator of transcription 3 mutated hyper-IgE syndrome.
MMP-8 is involved in sensory nerve growth within the interstitial CoL matrix through modulation by the axonal guidance molecules and/or extracellular matrix components
Title: Matrix metalloproteinase-8 is involved in dermal nerve growth: implications for possible application to pruritus from in vitro models.
Data indicate that the balance between MMPs and TIMPs in women with PCOS is altered, probably due to androgen excess found in these women.
Title: Imbalanced circulating matrix metalloproteinases in polycystic ovary syndrome.

Submit: New GeneRIF Correction See all (69)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
P22894	P16112	ACAN	HPRD	PubMed
P22894	Q96GW7	BCAN	HPRD	PubMed
P22894	P13500	CCL2	HPRD	PubMed
P22894	P10646	TFPI	HPRD	PubMed
P22894	P16035	TIMP2	HPRD	PubMed
P22894	P07911	UMOD	HPRD	PubMed
BioGRID:110460	BioGRID:121964	BCAN	BioGRID	PubMed	Biochemical Activity
BioGRID:110460	BioGRID:113164	UBC	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
calcium ion binding	IEA Inferred from Electronic Annotation more info
metalloendopeptidase activity	IEA Inferred from Electronic Annotation more info
peptidase activity	IEA Inferred from Electronic Annotation more info
serine-type endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
zinc ion binding	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
collagen catabolic process	IEA Inferred from Electronic Annotation more info
metabolic process	IEA Inferred from Electronic Annotation more info
ossification	IEA Inferred from Electronic Annotation more info
proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
extracellular region	IEA Inferred from Electronic Annotation more info
extracellular space	IDA Inferred from Direct Assay more info	PubMed
proteinaceous extracellular matrix	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: neutrophil collagenase

Names: neutrophil collagenase; PMNL collagenase; matrix metalloproteinase-8; matrix metalloproteinase 8 (neutrophil collagenase)

NP_002415.1

EC 3.4.24.34

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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.

Genomic

NG_012101.1 RefSeqGene

Range

5001..18160

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_002424.2 → NP_002415.1 neutrophil collagenase preproprotein

Status: REVIEWED

Source sequence(s)

AP000647, BC074988, DW009698

Consensus CDS

CCDS8320.1

UniProtKB/Swiss-Prot

P22894

Related

ENSP00000236826, OTTHUMP00000236265, ENST00000236826, OTTHUMT00000395223

Conserved Domains (3) summary

cd00094
Location:276 – 464
Blast Score: 545

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:107 – 262
Blast Score: 559

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 ...

cl15437
Location:29 – 86
Blast Score: 136

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_000011.9 Reference GRCh37.p5 Primary Assembly

Range

102582526..102595685, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

98509472..98522626, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP000647.5 (12544..25675)	None
genomic	CH471065.1	EAW67027.1
genomic	DQ141306.1	AAZ38714.1
mRNA	AK292659.1	BAF85348.1
mRNA	AK303388.1	BAG64444.1
mRNA	AK303511.1	BAG64542.1
mRNA	AK313374.1	None
mRNA	BC074988.2	AAH74988.1
mRNA	BC074989.2	AAH74989.1
mRNA	BC144094.1	None
mRNA	DW009698.1	None
mRNA	J05556.1	AAA88021.1