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    MMP1 matrix metallopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 4312, updated on 8-Jul-2018
    Official Symbol
    MMP1provided by HGNC
    Official Full Name
    matrix metallopeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:7155
    See related
    Ensembl:ENSG00000196611 MIM:120353; Vega:OTTHUMG00000048192
    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
    CLG; CLGN
    Summary
    This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
    Expression
    Biased expression in gall bladder (RPKM 49.1), appendix (RPKM 17.7) and 7 other tissues See more
    Orthologs
    See MMP1 in Genome Data Viewer
    Location:
    11q22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (102789910..102798235, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (102660641..102668966, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene sacsin molecular chaperone pseudogene Neighboring gene matrix metallopeptidase 10 Neighboring gene Wilms tumor 1 associated protein pseudogene 1 Neighboring gene casein kinase 1 alpha 1 pseudogene 2 Neighboring gene matrix metallopeptidase 3

    • 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?

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Treatment of human hepatic stellate cells with gp120 significantly increases secretion and gene expression of CCL2, metalloprotease-1 and interleukin-6. Gp120 also induces activation of Akt, NF-kappaB, and p38(MAPK) PubMed
    env CXCR4-tropic and CXCR4/CCR5 dual-tropic HIV-1 gp120 induce the cleavage of CD62 ligand by a mechanism dependent on matrix metalloproteinases 1 and 3, CD4, CXCR4, Galpha(i), and p38 MAPK, whereas CCR5-tropic gp120 does not PubMed
    Envelope transmembrane glycoprotein gp41 env HIV-1 gp41 upregulates MMP-1 expression in human PBMCs. Mutation Q577A impairs gp41-mediated upregulation of MMP-1 PubMed
    Tat tat HIV-1 Tat and methamphetamine enhance the release of MMP-1, MMP-2, and uPA from human brain cells PubMed
    tat MMP-1 can degrade HIV-1 Tat and this effect is blocked by MMP-1 inhibitors. PubMed
    tat Through the activation of membrane-type-1-matrix-metalloproteinase (MMP-1) and the induction of tissue inhibitor of metalloproteinase-2 (TIMP-2), HIV-1 Tat and bFGF synergize to upregulate MMP-2 secretion and activation in endothelial cells PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of matrix metallopeptidase 1 (MMP1, interstitial collagenase) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed

    Go to the HIV-1, Human Interaction Database

    • 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...
    • Basigin interactions, organism-specific biosystem (from REACTOME)
      Basigin interactions, organism-specific biosystemBasigin is a widely expressed transmembrane glycoprotein that belongs to the Ig superfamily and is highly enriched on the surface of epithelial cells. Basigin is involved in intercellular interaction...
    • Bladder Cancer, organism-specific biosystem (from WikiPathways)
      Bladder Cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Bladder cancer, organism-specific biosystem (from KEGG)
      Bladder cancer, organism-specific biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Bladder cancer, conserved biosystem (from KEGG)
      Bladder cancer, conserved biosystemThe urothelium covers the luminal surface of almost the entire urinary tract, extending from the renal pelvis, through the ureter and bladder, to the proximal urethra. The majority of urothelial carc...
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • 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...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • 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...
    • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
      Endothelins, organism-specific biosystem
      Endothelins
    • 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...
    • Glucocorticoid receptor regulatory network, organism-specific biosystem (from Pathway Interaction Database)
      Glucocorticoid receptor regulatory network, organism-specific biosystem
      Glucocorticoid receptor regulatory network
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem (from WikiPathways)
      Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystemPathway model based on hub miRNAs and their putative targets from network analysis. - From a set of differentially expressed genes in both chronic HCV (hepatitis C virus) and HCC (hepatocellular carc...
    • IL-17 signaling pathway, organism-specific biosystem (from KEGG)
      IL-17 signaling pathway, organism-specific biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
    • IL-17 signaling pathway, conserved biosystem (from KEGG)
      IL-17 signaling pathway, conserved biosystemThe interleukin 17 (IL-17) family, a subset of cytokines consisting of IL-17A-F, plays crucial roles in both acute and chronic inflammatory responses. IL-17A, the hallmark cytokine of the newly defi...
    • 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...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Cancer Pathway, organism-specific biosystem
      Integrated Cancer Pathway
    • Interleukin-4 and 13 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-4 and 13 signaling, organism-specific biosystemInterleukin-4 (IL4) is a principal regulatory cytokine during the immune response, crucially important in allergy and asthma (Nelms et al. 1999). When resting T cells are antigen-activated and expand...
    • 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...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Oncostatin M Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Oncostatin M Signaling Pathway, organism-specific biosystemOncostatin M (OSM) is a member of the multifunctional cytokine interleukin 6 (IL6) - type cytokine family. It is mainly produced in cell types such as activated T lymphocytes, macrophages, monocytes,...
    • PPAR signaling pathway, organism-specific biosystem (from KEGG)
      PPAR signaling pathway, organism-specific biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • PPAR signaling pathway, conserved biosystem (from KEGG)
      PPAR signaling pathway, conserved biosystemPeroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors that are activated by fatty acids and their derivatives. PPAR has three subtypes (PPARalpha, beta/delta, and gamma) s...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Photodynamic therapy-induced NF-kB survival signaling, organism-specific biosystem (from WikiPathways)
      Photodynamic therapy-induced NF-kB survival signaling, organism-specific biosystemPhotodynamic therapy may induce a pro-inflammatory and angiogenic response mediated by NF-?B.
    • Quercetin and Nf-kB/ AP-1 Induced Cell Apoptosis, organism-specific biosystem (from WikiPathways)
      Quercetin and Nf-kB/ AP-1 Induced Cell Apoptosis, organism-specific biosystem
      Quercetin and Nf-kB/ AP-1 Induced Cell Apoptosis
    • Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), organism-specific biosystem (from REACTOME)
      Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs), organism-specific biosystemThe family of Insulin like Growth Factor Binding Proteins (IGFBPs) share 50% amino acid identity with conserved N terminal and C terminal regions responsible for binding Insulin like Growth Factors I...
    • Rheumatoid arthritis, organism-specific biosystem (from KEGG)
      Rheumatoid arthritis, organism-specific biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Rheumatoid arthritis, conserved biosystem (from KEGG)
      Rheumatoid arthritis, conserved biosystemRheumatoid arthritis (RA) is a chronic autoimmune joint disease where persistent inflammation affects bone remodeling leading to progressive bone destruction. In RA, abnormal activation of the immune...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Syndecan-1-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      Syndecan-1-mediated signaling events, organism-specific biosystem
      Syndecan-1-mediated signaling events
    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
    • Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem (from Pathway Interaction Database)
      Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem
      Validated transcriptional targets of AP1 family members Fra1 and Fra2
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    endopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    metalloendopeptidase activity TAS
    Traceable Author Statement
    more info
     
    serine-type endopeptidase activity TAS
    Traceable Author Statement
    more info
     
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    cellular protein metabolic process TAS
    Traceable Author Statement
    more info
     
    collagen catabolic process TAS
    Traceable Author Statement
    more info
     
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    positive regulation of protein oligomerization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    viral process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    interstitial collagenase
    Names
    fibroblast collagenase
    matrix metallopeptidase 1 (interstitial collagenase)
    matrix metalloprotease 1
    matrix metalloproteinase 1
    NP_001139410.1
    NP_002412.1

    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_011740.1 RefSeqGene

      Range
      5001..13326
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001145938.1NP_001139410.1  interstitial collagenase isoform 2

      See identical proteins and their annotated locations for NP_001139410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and uses a downstream start codon compared to variant 1. The resulting protein (isoform 2) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK297723, AP000619
      UniProtKB/TrEMBL
      B4DN15
      Conserved Domains (4) summary
      cd00094
      Location:209400
      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:42195
      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:42195
      Peptidase_M10; Matrixin
      pfam01471
      Location:121
      PG_binding_1; Putative peptidoglycan binding domain
    2. NM_002421.3NP_002412.1  interstitial collagenase isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_002412.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK223036, AP000619, BC013875, DC385245
      Consensus CDS
      CCDS8322.1
      UniProtKB/Swiss-Prot
      P03956
      UniProtKB/TrEMBL
      Q53G95
      Related
      ENSP00000322788.6, OTTHUMP00000045866, ENST00000315274.6, OTTHUMT00000109632
      Conserved Domains (3) summary
      cd00094
      Location:275466
      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:108261
      Peptidase_M10; Matrixin
      pfam01471
      Location:2787
      PG_binding_1; Putative peptidoglycan binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    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
      102789910..102798235 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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