Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    MMP8 matrix metallopeptidase 8 [ Homo sapiens (human) ]

    Gene ID: 4317, updated on 5-Nov-2017
    Official Symbol
    MMP8provided by HGNC
    Official Full Name
    matrix metallopeptidase 8provided by HGNC
    Primary source
    HGNC:HGNC:7175
    See related
    Ensembl:ENSG00000118113 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
    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
    Location:
    11q22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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
    • 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 ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    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
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteinaceous extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    specific granule lumen TAS
    Traceable Author Statement
    more info
     
    tertiary granule lumen TAS
    Traceable Author Statement
    more info
     
    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

    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_002424.2NP_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, OTTHUMP00000236265, ENST00000236826.7, OTTHUMT00000395223
      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 108

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 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, OTTHUMP00000236267, ENST00000438475.2, OTTHUMT00000395225
      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

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      102465498..102478648 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center