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MMP8 matrix metallopeptidase 8 [ Homo sapiens (human) ]

Gene ID: 4317, updated on 13-Feb-2019

Summary

Official Symbol
MMP8provided by HGNC
Official Full Name
matrix metallopeptidase 8provided by HGNC
Primary source
HGNC:HGNC:7175
See related
Ensembl:ENSG00000118113 MIM:120355
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
This gene encodes a member of the matrix metalloproteinase (MMP) family of proteins. These proteins are involved in the breakdown of extracellular matrix in embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Proteolysis at different sites on this protein results in multiple active forms of the enzyme with distinct N-termini. This protein functions in the degradation of type I, II and III collagens. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
Expression
Restricted expression toward bone marrow (RPKM 202.1) See more
Orthologs

Genomic context

See MMP8 in Genome Data Viewer
Location:
11q22.2
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (102711795..102724967, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102582526..102595734, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene matrix metallopeptidase 20 Neighboring gene uncharacterized LOC101928477 Neighboring gene matrix metallopeptidase 27 Neighboring gene sacsin molecular chaperone pseudogene Neighboring gene matrix metallopeptidase 10

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from BioSystems

  • Activation of Matrix Metalloproteinases, organism-specific biosystem (from REACTOME)
    Activation of Matrix Metalloproteinases, organism-specific biosystemThe matrix metalloproteinases (MMPs), previously known as matrixins, are classically known to be involved in the turnover of extracellular matrix (ECM) components. However, recent high throughput pro...
  • Collagen degradation, organism-specific biosystem (from REACTOME)
    Collagen degradation, organism-specific biosystemCollagen fibril diameter and spatial organisation are dependent on the species, tissue type and stage of development (Parry 1988). The lengths of collagen fibrils in mature tissues are largely unknow...
  • Degradation of the extracellular matrix, organism-specific biosystem (from REACTOME)
    Degradation of the extracellular matrix, organism-specific biosystemMatrix metalloproteinases (MMPs), previously referred to as matrixins because of their role in degradation of the extracellular matrix (ECM), are zinc and calcium dependent proteases belonging to the...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Matrix Metalloproteinases, organism-specific biosystem (from WikiPathways)
    Matrix Metalloproteinases, organism-specific biosystemMatrix metalloproteinases (MMPs) are zinc-dependent endopeptidases; other family members are adamalysins, serralysins, and astacins. The MMPs belong to a larger family of proteases known as the metzi...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen catabolic process TAS
Traceable Author Statement
more info
 
endodermal cell differentiation IEP
Inferred from Expression Pattern
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 
negative regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
negative regulation of interleukin-10 production ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of JNK cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of NIK/NF-kappaB signaling ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of interleukin-6 production ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of microglial cell activation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of neuroinflammatory response ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of nitric oxide biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of reactive oxygen species biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of tumor necrosis factor secretion ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
proteolysis IDA
Inferred from Direct Assay
more info
PubMed 
regulation of microglial cell activation TAS
Traceable Author Statement
more info
PubMed 
regulation of neuroinflammatory response TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
collagen-containing extracellular matrix HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
neutrophil collagenase
Names
PMN leukocyte collagenase
PMNL collagenase
collagenase 2
matrix metalloproteinase 8 (neutrophil collagenase)
matrix metalloproteinase-8
NP_001291370.1
NP_001291371.1
NP_002415.1
XP_011541136.1
XP_011541137.1
XP_011541138.1
XP_016873260.1

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_012101.1 RefSeqGene

    Range
    5001..18160
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001304441.1NP_001291370.1  neutrophil collagenase isoform 2

    See identical proteins and their annotated locations for NP_001291370.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AK303388, AL597614, AP000647, AW468376, BC144094, BG213446, J05556
    UniProtKB/Swiss-Prot
    P22894
    UniProtKB/TrEMBL
    B4E0I2
    Conserved Domains (4) summary
    cd00094
    Location:253441
    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:84239
    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:84239
    Peptidase_M10; Matrixin
    pfam01471
    Location:863
    PG_binding_1; Putative peptidoglycan binding domain
  2. NM_001304442.1NP_001291371.1  neutrophil collagenase isoform 2

    See identical proteins and their annotated locations for NP_001291371.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at an alternate start codon compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform (2).
    Source sequence(s)
    AL597614, AP000647, AW468376, BC144094, BG218770, J05556
    UniProtKB/Swiss-Prot
    P22894
    Conserved Domains (4) summary
    cd00094
    Location:253441
    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:84239
    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:84239
    Peptidase_M10; Matrixin
    pfam01471
    Location:863
    PG_binding_1; Putative peptidoglycan binding domain
  3. NM_002424.3NP_002415.1  neutrophil collagenase isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_002415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shortest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AP000647, BC074988, DW009698
    Consensus CDS
    CCDS8320.1
    UniProtKB/Swiss-Prot
    P22894
    Related
    ENSP00000236826.3, ENST00000236826.7
    Conserved Domains (4) summary
    cd00094
    Location:276464
    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:107262
    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:107262
    Peptidase_M10; Matrixin
    pfam01471
    Location:2986
    PG_binding_1; Putative peptidoglycan binding domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    102711795..102724967 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011542836.2XP_011541138.1  neutrophil collagenase isoform X3

    Related
    ENSP00000401004.2, ENST00000438475.2
    Conserved Domains (4) summary
    cd04278
    Location:116271
    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:116271
    Peptidase_M10; Matrixin
    pfam01471
    Location:4595
    PG_binding_1; Putative peptidoglycan binding domain
    cl02471
    Location:285355
    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_011542834.2XP_011541136.1  neutrophil collagenase isoform X1

    Conserved Domains (4) summary
    cd00094
    Location:285473
    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:116271
    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:116271
    Peptidase_M10; Matrixin
    pfam01471
    Location:4595
    PG_binding_1; Putative peptidoglycan binding domain
  3. XM_011542835.2XP_011541137.1  neutrophil collagenase isoform X2

    See identical proteins and their annotated locations for XP_011541137.1

    Conserved Domains (4) summary
    cd00094
    Location:253441
    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:84239
    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:84239
    Peptidase_M10; Matrixin
    pfam01471
    Location:863
    PG_binding_1; Putative peptidoglycan binding domain
  4. XM_017017771.1XP_016873260.1  neutrophil collagenase isoform X2

    Conserved Domains (4) summary
    cd00094
    Location:253441
    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:84239
    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:84239
    Peptidase_M10; Matrixin
    pfam01471
    Location:863
    PG_binding_1; Putative peptidoglycan binding domain
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