U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from Nucleotide

    • Showing Current items.

    MMP27 matrix metallopeptidase 27 [ Homo sapiens (human) ]

    Gene ID: 64066, updated on 14-Nov-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    MMP27provided by HGNC
    Official Full Name
    matrix metallopeptidase 27provided by HGNC
    Primary source
    HGNC:HGNC:14250
    See related
    Ensembl:ENSG00000137675 MIM:618101; AllianceGenome:HGNC:14250
    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
    MMP-27
    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. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See MMP27 in Genome Data Viewer
    Location:
    11q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (102691487..102705769, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (102693656..102707936, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102562218..102576500, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene matrix metallopeptidase 20 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:102486041-102486542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:102486543-102487042 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18652 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18668 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_18672 Neighboring gene MMP20 antisense RNA 1 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 BRD4-independent group 4 enhancer GRCh37_chr11:102594892-102596091 Neighboring gene matrix metallopeptidase 8 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

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Association Study between the Polymorphisms of Matrix Metalloproteinase (MMP) Genes and Idiopathic Recurrent Pregnancy Loss. Park HS, et al. Genes (Basel), 2019 May 7. PMID 31067818, Free PMC Article
    2. Matrix metalloproteinase-27 is expressed in CD163+/CD206+ M2 macrophages in the cycling human endometrium and in superficial endometriotic lesions. Cominelli A, et al. Mol Hum Reprod, 2014 Aug. PMID 24810263
    3. A unique C-terminal domain allows retention of matrix metalloproteinase-27 in the endoplasmic reticulum. Cominelli A, et al. Traffic, 2014 Apr. PMID 24548619
    4. Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families. Wojciechowski R, et al. Invest Ophthalmol Vis Sci, 2010 Oct. PMID 20484597, Free PMC Article
    5. Matrix metalloproteinases. Nagase H, et al. J Biol Chem, 1999 Jul 30. PMID 10419448

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Two polymorphisms of MMP-8 and MMP-27 were significantly associated with recurrent pregnancy loss (RPL) risk, both individually and in combination. Therefore, these two polymorphisms are potential biomarkers for RPL susceptibility.
      Title: Association Study between the Polymorphisms of Matrix Metalloproteinase (MMP) Genes and Idiopathic Recurrent Pregnancy Loss.
    2. MMP-27 is expressed in a subset of endometrial macrophages related to menstruation and in ovarian and peritoneal endometriotic lesions.
      Title: Matrix metalloproteinase-27 is expressed in CD163+/CD206+ M2 macrophages in the cycling human endometrium and in superficial endometriotic lesions.
    3. MMP-27 is efficiently retained within the ER due to its unique CTE, which does not lead to stable membrane insertion. This could represent a novel ER retention system
      Title: A unique C-terminal domain allows retention of matrix metalloproteinase-27 in the endoplasmic reticulum.
    4. 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.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families.
    Submit: New GeneRIF Correction

    Phenotypes

    Go to the top of the page Help

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in collagen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in extracellular matrix organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    matrix metalloproteinase-27
    Names
    matrix metalloprotease 27

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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.

    mRNA and Protein(s)

    1. NM_022122.3 → NP_071405.2  matrix metalloproteinase-27 precursor

      See identical proteins and their annotated locations for NP_071405.2

      Status: REVIEWED

      Source sequence(s)
      AP000647, AP000851, AY358752, BX102293
      Consensus CDS
      CCDS8319.1
      UniProtKB/Swiss-Prot
      Q6UWK6, Q9H306
      Related
      ENSP00000260229.4, ENST00000260229.5
      Conserved Domains (4) summary
      cd00094
      Location:276 → 465
      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:106 → 261
      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:106 → 261
      Peptidase_M10; Matrixin
      pfam01471
      Location:26 → 86
      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
      102691487..102705769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011542950.4 → XP_011541252.1  matrix metalloproteinase-27 isoform X4

      Conserved Domains (3) summary
      cd00094
      Location:171 → 360
      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:9 → 156
      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:9 → 156
      Peptidase_M10; Matrixin

    2. XM_011542948.3 → XP_011541250.1  matrix metalloproteinase-27 isoform X2

      Conserved Domains (4) summary
      cd00094
      Location:233 → 422
      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 ...
      pfam00413
      Location:106 → 218
      Peptidase_M10; Matrixin
      pfam01471
      Location:26 → 86
      PG_binding_1; Putative peptidoglycan binding domain
      cl00064
      Location:106 → 218
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    3. XM_011542949.3 → XP_011541251.1  matrix metalloproteinase-27 isoform X3

      Conserved Domains (4) summary
      cd00094
      Location:222 → 411
      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 ...
      pfam00413
      Location:106 → 207
      Peptidase_M10; Matrixin
      pfam01471
      Location:26 → 86
      PG_binding_1; Putative peptidoglycan binding domain
      cl00064
      Location:106 → 208
      ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

    4. XM_017018120.2 → XP_016873609.1  matrix metalloproteinase-27 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      102693656..102707936 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369629.1 → XP_054225604.1  matrix metalloproteinase-27 isoform X4

    2. XM_054369627.1 → XP_054225602.1  matrix metalloproteinase-27 isoform X2

    3. XM_054369628.1 → XP_054225603.1  matrix metalloproteinase-27 isoform X3

    4. XM_054369626.1 → XP_054225601.1  matrix metalloproteinase-27 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H306.2 GenPept UniProtKB/Swiss-Prot:Q9H306

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools