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    MMP8 matrix metallopeptidase 8 [ Homo sapiens (human) ]

    Gene ID: 4317, updated on 9-Dec-2024

    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; AllianceGenome:HGNC:7175
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MMP8 in Genome Data Viewer
    Location:
    11q22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102711796..102724954, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (102713966..102727115, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102582527..102595685, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18668 Neighboring gene MMP20 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18672 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18676 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18677 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18685 Neighboring gene matrix metallopeptidase 27 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:102594892-102596091 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3865 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:102617370-102617934 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:102617935-102618499 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:102623204-102624403 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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables endopeptidase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    enables tumor necrosis factor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables zinc ion binding TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to lipopolysaccharide ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in collagen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in endodermal cell differentiation IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of positive regulation of microglial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of neuroinflammatory response ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of tumor necrosis factor-mediated signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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_047282921.1
    XP_047282922.1
    XP_054224811.1
    XP_054224812.1
    XP_054224813.1
    XP_054224814.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..18159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001304441.2NP_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/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_001304442.2NP_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/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
    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, Q45F99
      UniProtKB/TrEMBL
      A8K9E4
      Related
      ENSP00000236826.3, ENST00000236826.8
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      102711796..102724954 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542834.3XP_011541136.1  neutrophil collagenase isoform X1

      UniProtKB/TrEMBL
      A8K9E4
      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
    2. XM_011542835.3XP_011541137.1  neutrophil collagenase isoform X2

      See identical proteins and their annotated locations for XP_011541137.1

      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
    3. XM_047426965.1XP_047282921.1  neutrophil collagenase isoform X2

      UniProtKB/TrEMBL
      B4E0I2
    4. XM_047426966.1XP_047282922.1  neutrophil collagenase isoform X3

      UniProtKB/TrEMBL
      H7C1M3
      Related
      ENSP00000401004.2, ENST00000438475.2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      102713966..102727115 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368836.1XP_054224811.1  neutrophil collagenase isoform X1

      UniProtKB/TrEMBL
      A8K9E4
    2. XM_054368838.1XP_054224813.1  neutrophil collagenase isoform X2

      UniProtKB/TrEMBL
      B4E0I2
    3. XM_054368837.1XP_054224812.1  neutrophil collagenase isoform X2

      UniProtKB/TrEMBL
      B4E0I2
    4. XM_054368839.1XP_054224814.1  neutrophil collagenase isoform X3

      UniProtKB/TrEMBL
      H7C1M3