Human Gene MMP12 (ENST00000571244.3_7) from GENCODE V47lift37
  Description: matrix metallopeptidase 12 (from RefSeq NM_002426.6)
Gencode Transcript: ENST00000571244.3_7
Gencode Gene: ENSG00000262406.3_9
Transcript (Including UTRs)
   Position: hg19 chr11:102,733,467-102,745,712 Size: 12,246 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr11:102,733,831-102,745,667 Size: 11,837 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:102,733,467-102,745,712)mRNA (may differ from genome)Protein (466 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MMP12_HUMAN
DESCRIPTION: RecName: Full=Macrophage metalloelastase; Short=MME; EC=3.4.24.65; AltName: Full=Macrophage elastase; Short=ME; Short=hME; AltName: Full=Matrix metalloproteinase-12; Short=MMP-12; Flags: Precursor;
FUNCTION: May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.
CATALYTIC ACTIVITY: Hydrolysis of soluble and insoluble elastin. Specific cleavages are also produced at 14-Ala-|-Leu-15 and 16- Tyr-|-Leu-17 in the B chain of insulin.
COFACTOR: Binds 4 calcium ions per subunit.
COFACTOR: Binds 2 zinc ions per subunit.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (Probable).
TISSUE SPECIFICITY: Found in alveolar macrophages but not in peripheral blood monocytes.
INDUCTION: By exposure to bacterial lipopolysaccharides (LPS). Inhibited by dexamethasone.
DOMAIN: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
SIMILARITY: Belongs to the peptidase M10A family.
SIMILARITY: Contains 4 hemopexin-like domains.
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp12/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MMP12
Diseases sorted by gene-association score: mid-dermal elastolysis (13), aneurysm (11), pulmonary emphysema (11), coronary artery aneurysm (9), dermatitis herpetiformis (9), pulmonary disease, chronic obstructive (8), light chain deposition disease (7), abdominal aortic aneurysm (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C085911 2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one
  • D002251 Carbon Tetrachloride
  • D014028 Tobacco Smoke Pollution
  • C093973 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • C091768 3'-methoxy-4'-nitroflavone
  • C023035 3,4,5,3',4'-pentachlorobiphenyl
  • C080755 3-(2-methoxybenzylamino)-2-phenylpiperidine
  • C026137 3-hydroxyacetanilide
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.8045-0.129 Picture PostScript Text
3' UTR -61.30364-0.168 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000585 - Hemopexin/matrixin
IPR018486 - Hemopexin/matrixin_CS
IPR018487 - Hemopexin/matrixin_repeat
IPR024079 - MetalloPept_cat_dom
IPR001818 - Pept_M10_metallopeptidase
IPR016293 - Pept_M10A_matrix_strom
IPR021190 - Pept_M10A_matrixin
IPR021158 - Pept_M10A_Zn_BS
IPR006026 - Peptidase_Metallo
IPR002477 - Peptidoglycan-bd-like

Pfam Domains:
PF00413 - Matrixin
PF01471 - Putative peptidoglycan binding domain

SCOP Domains:
47090 - PGBD-like
55486 - Metalloproteases ("zincins"), catalytic domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1JIZ - X-ray MuPIT 1JK3 - X-ray MuPIT 1OS2 - X-ray MuPIT 1OS9 - X-ray MuPIT 1RMZ - X-ray MuPIT 1ROS - X-ray MuPIT 1UTT - X-ray MuPIT 1UTZ - X-ray MuPIT 1Y93 - X-ray MuPIT 1YCM - NMR MuPIT 1Z3J - NMR MuPIT 2HU6 - X-ray MuPIT 2JXY - NMR MuPIT 2K2G - NMR MuPIT 2K9C - NMR MuPIT 2KRJ - NMR MuPIT 2OXU - X-ray MuPIT 2OXW - X-ray MuPIT 2OXZ - X-ray MuPIT 2POJ - NMR MuPIT 2W0D - X-ray MuPIT 2WO8 - X-ray MuPIT 2WO9 - X-ray MuPIT 2WOA - X-ray MuPIT 2Z2D - NMR MuPIT 3BA0 - X-ray MuPIT 3EHX - X-ray MuPIT 3EHY - X-ray MuPIT 3F15 - X-ray MuPIT 3F16 - X-ray MuPIT 3F17 - X-ray MuPIT 3F18 - X-ray MuPIT 3F19 - X-ray MuPIT 3F1A - X-ray MuPIT 3LIK - X-ray MuPIT 3LIL - X-ray MuPIT 3LIR - X-ray MuPIT 3LJG - X-ray MuPIT 3LK8 - X-ray MuPIT 3LKA - X-ray MuPIT 3N2U - X-ray MuPIT 3N2V - X-ray MuPIT 3NX7 - X-ray MuPIT 3RTS - X-ray MuPIT 3RTT - X-ray MuPIT 3TS4 - X-ray MuPIT 3TSK - X-ray MuPIT 4EFS - X-ray MuPIT 4GUY - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P39900
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001047 core promoter binding
GO:0004175 endopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005509 calcium ion binding
GO:0005518 collagen binding
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0043565 sequence-specific DNA binding
GO:0046872 metal ion binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006508 proteolysis
GO:0006606 protein import into nucleus
GO:0010628 positive regulation of gene expression
GO:0022617 extracellular matrix disassembly
GO:0030574 collagen catabolic process
GO:0035313 wound healing, spreading of epidermal cells
GO:0042060 wound healing
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050691 regulation of defense response to virus by host
GO:0060054 positive regulation of epithelial cell proliferation involved in wound healing
GO:0060339 negative regulation of type I interferon-mediated signaling pathway
GO:0060340 positive regulation of type I interferon-mediated signaling pathway
GO:0098586 cellular response to virus
GO:1902741 positive regulation of interferon-alpha secretion

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  L23808 - Human metalloproteinase (HME) mRNA, complete cds.
BC143773 - Homo sapiens matrix metallopeptidase 12 (macrophage elastase), mRNA (cDNA clone MGC:177304 IMAGE:9052287), complete cds.
BC112301 - Homo sapiens matrix metallopeptidase 12 (macrophage elastase), mRNA (cDNA clone MGC:138506 IMAGE:8327769), complete cds.
JD504015 - Sequence 485039 from Patent EP1572962.
AK313959 - Homo sapiens cDNA, FLJ94605, highly similar to Homo sapiens matrix metalloproteinase 12 (macrophage elastase)(MMP12), mRNA.
HQ258263 - Synthetic construct Homo sapiens clone IMAGE:100072572 matrix metallopeptidase 12 (macrophage elastase) (MMP12) gene, encodes complete protein.
KJ891628 - Synthetic construct Homo sapiens clone ccsbBroadEn_01022 MMP12 gene, encodes complete protein.
AB590529 - Synthetic construct DNA, clone: pFN21AE1932, Homo sapiens MMP12 gene for matrix metallopeptidase 12, without stop codon, in Flexi system.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P39900 (Reactome details) participates in the following event(s):

R-HSA-1454781 MMP1,3,13 (2, 7-12, 19) binding by Alpha-2 macroglubulin
R-HSA-2168046 Collagen type XII degradation by MMP12
R-HSA-1564142 Collagen type IV degradation by MMP2,3,4,9,10,12
R-HSA-2168923 Collagen type XVIII endostatin release
R-HSA-2485148 Fibrillin 1, 2,(3) degradation by MMP2, 9, 12 and 13
R-HSA-1566962 Elastin degradation by elastin-degrading extracellular proteinases
R-HSA-1566981 Fibronectin degradation by MMP1, 3, 7, 12, 13, 19, CTSS
R-HSA-1592270 NID1 degradation by MMP1, 9, 12, ELANE
R-NUL-2533972 Nid1 degradation by MMP1, 9, 12, ELANE
R-HSA-3791295 Aggrecan degradation by MMP1,2,3,7,9,12,13
R-NUL-3814821 Aggrecan degradation by MMP1,2,3,7,9,12,13
R-HSA-1592314 HSPG2 (perlecan) degradation by MMP3, plasmin, (MMP12)
R-HSA-1566979 Laminin-332 degradation by laminin-322 degrading extracellular proteinases
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization

-  Other Names for This Gene
  Alternate Gene Symbols: B2R9X8, B7ZLF6, ENST00000571244.1, ENST00000571244.2, HME, MMP12_HUMAN, NM_002426, P39900, Q2M1L9, uc326baf.1, uc326baf.2
UCSC ID: ENST00000571244.3_7
RefSeq Accession: NM_002426.6
Protein: P39900 (aka MMP12_HUMAN or MM12_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.