Human Gene MMP19 (uc001sib.4)
  Description: Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.
RefSeq Summary (NM_002429): This gene encodes a member of a family of proteins that 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 protein is secreted as an inactive proprotein, which is activated upon cleavage by extracellular proteases. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Jan 2013].
Transcript (Including UTRs)
   Position: hg19 chr12:56,229,214-56,236,767 Size: 7,554 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr12:56,230,820-56,236,614 Size: 5,795 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:56,229,214-56,236,767)mRNA (may differ from genome)Protein (508 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MMP19_HUMAN
DESCRIPTION: RecName: Full=Matrix metalloproteinase-19; Short=MMP-19; EC=3.4.24.-; AltName: Full=Matrix metalloproteinase RASI; AltName: Full=Matrix metalloproteinase-18; Short=MMP-18; Flags: Precursor;
FUNCTION: Endopeptidase that degrades various components of the extracellular matrix, such as aggrecan and cartilage oligomeric matrix protein (comp), during development, haemostasis and pathological conditions (arthritic disease). May also play a role in neovascularization or angiogenesis. Hydrolyzes collagen type IV, laminin, nidogen, nascin-C isoform, fibronectin, and type I gelatin.
CATALYTIC ACTIVITY: Cleaves aggrecan at the 360-Ser-|-Phe-361 site.
COFACTOR: Binds 1 zinc ion per subunit (By similarity).
COFACTOR: Calcium (By similarity).
ENZYME REGULATION: Strongly inhibited by TIMP-2, TIMP-3 and TIMP- 4, while TIMP-1 is less efficient.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (By similarity).
TISSUE SPECIFICITY: Expressed in mammary gland, placenta, lung, pancreas, ovary, small intestine, spleen, thymus, prostate, testis colon, heart and blood vessel walls. Not detected in brain and peripheral blood leukocytes. Also expressed in the synovial fluid of normal and rheumatoid patients.
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.
PTM: Activated by autolytic cleavage after Lys-97.
DISEASE: Note=May play a role in pathological processes participating in rheumatoid arthritis (RA)-associated joint tissue destruction. Autoantigen anti-MMP19 are frequent in RA patients.
SIMILARITY: Belongs to the peptidase M10A family.
SIMILARITY: Contains 4 hemopexin-like domains.
SEQUENCE CAUTION: Sequence=AAC99995.1; Type=Erroneous translation; Note=Wrong choice of CDS;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/mmp19/";

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MMP19
CDC HuGE Published Literature: MMP19

-  MalaCards Disease Associations
  MalaCards Gene Search: MMP19
Diseases sorted by gene-association score: cavitary optic disc anomalies* (1270), suppurative periapical periodontitis (11)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 38.15 RPKM in Spleen
Total median expression: 538.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -52.30153-0.342 Picture PostScript Text
3' UTR -544.211606-0.339 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
IPR018487 - Hemopexin/matrixin_repeat
IPR024079 - MetalloPept_cat_dom
IPR001818 - Pept_M10_metallopeptidase
IPR016293 - Pept_M10A_matrix_strom
IPR021190 - Pept_M10A_matrixin
IPR006026 - Peptidase_Metallo
IPR002477 - Peptidoglycan-bd-like

Pfam Domains:
PF00045 - Hemopexin
PF00413 - Matrixin
PF01471 - Putative peptidoglycan binding domain

SCOP Domains:
47090 - PGBD-like
50923 - Hemopexin-like domain
55486 - Metalloproteases ("zincins"), catalytic domain

ModBase Predicted Comparative 3D Structure on Q99542
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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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004222 metalloendopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0008233 peptidase activity
GO:0008237 metallopeptidase activity
GO:0008270 zinc ion binding
GO:0016787 hydrolase activity
GO:0046872 metal ion binding

Biological Process:
GO:0001525 angiogenesis
GO:0001541 ovarian follicle development
GO:0001542 ovulation from ovarian follicle
GO:0001554 luteolysis
GO:0006508 proteolysis
GO:0007275 multicellular organism development
GO:0009725 response to hormone
GO:0022617 extracellular matrix disassembly
GO:0030154 cell differentiation
GO:0030574 collagen catabolic process
GO:0051591 response to cAMP

Cellular Component:
GO:0005576 extracellular region
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  U38320 - Homo sapiens clone rasi-3 matrix metalloproteinase RASI-1 mRNA, splice variant, complete cds.
U37791 - Homo sapiens clone rasi-1 matrix metalloproteinase RASI-1 mRNA, complete cds.
BC030206 - Homo sapiens matrix metallopeptidase 19, mRNA (cDNA clone IMAGE:5209132), with apparent retained intron.
JD423101 - Sequence 404125 from Patent EP1572962.
JD343067 - Sequence 324091 from Patent EP1572962.
JD165452 - Sequence 146476 from Patent EP1572962.
JD034960 - Sequence 15984 from Patent EP1572962.
JD196103 - Sequence 177127 from Patent EP1572962.
JD538321 - Sequence 519345 from Patent EP1572962.
JD230898 - Sequence 211922 from Patent EP1572962.
JD126354 - Sequence 107378 from Patent EP1572962.
JD179963 - Sequence 160987 from Patent EP1572962.
JD241633 - Sequence 222657 from Patent EP1572962.
JD446256 - Sequence 427280 from Patent EP1572962.
JD533638 - Sequence 514662 from Patent EP1572962.
JD373711 - Sequence 354735 from Patent EP1572962.
JD300974 - Sequence 281998 from Patent EP1572962.
JD275263 - Sequence 256287 from Patent EP1572962.
JD360138 - Sequence 341162 from Patent EP1572962.
JD068074 - Sequence 49098 from Patent EP1572962.
JD409564 - Sequence 390588 from Patent EP1572962.
JD058013 - Sequence 39037 from Patent EP1572962.
JD328070 - Sequence 309094 from Patent EP1572962.
JD198862 - Sequence 179886 from Patent EP1572962.
Y08622 - H.sapiens mRNA for matrix metalloproteinase MMP-18.
U38322 - Homo sapiens clone rasi-9 matrix metalloproteinase RASI-1 mRNA, splice variant, complete cds.
U38431 - Human clone rasi-6 matrix metalloproteinase RASI-1 mRNA, splice variant, complete cds.
U38321 - Homo sapiens clone rasi-11 matrix metalloproteinase RASI-1 mRNA, complete cds.
BC050368 - Homo sapiens matrix metallopeptidase 19, mRNA (cDNA clone MGC:51823 IMAGE:5761074), complete cds.
AK225939 - Homo sapiens mRNA for matrix metalloproteinase 19 isoform rasi-1, preproprotein variant, clone: FCC116D03.
JD537132 - Sequence 518156 from Patent EP1572962.
JD170976 - Sequence 152000 from Patent EP1572962.
JD537131 - Sequence 518155 from Patent EP1572962.
JD114113 - Sequence 95137 from Patent EP1572962.
JD355526 - Sequence 336550 from Patent EP1572962.
JD327989 - Sequence 309013 from Patent EP1572962.
JD042285 - Sequence 23309 from Patent EP1572962.
JD370887 - Sequence 351911 from Patent EP1572962.
JD239105 - Sequence 220129 from Patent EP1572962.
JD205270 - Sequence 186294 from Patent EP1572962.
JD164780 - Sequence 145804 from Patent EP1572962.
JD261521 - Sequence 242545 from Patent EP1572962.
JD438121 - Sequence 419145 from Patent EP1572962.
JD210250 - Sequence 191274 from Patent EP1572962.
JD127460 - Sequence 108484 from Patent EP1572962.
JD250975 - Sequence 231999 from Patent EP1572962.
JD326559 - Sequence 307583 from Patent EP1572962.
JD399469 - Sequence 380493 from Patent EP1572962.
X92521 - H.sapiens mRNA for MMP-19 protein.
AK303202 - Homo sapiens cDNA FLJ60201 complete cds, highly similar to Matrix metalloproteinase-19 precursor (EC 3.4.24.-).
JD261959 - Sequence 242983 from Patent EP1572962.
JD086988 - Sequence 68012 from Patent EP1572962.
JD313534 - Sequence 294558 from Patent EP1572962.
JD171276 - Sequence 152300 from Patent EP1572962.
JD530721 - Sequence 511745 from Patent EP1572962.
HQ448618 - Synthetic construct Homo sapiens clone IMAGE:100072057; CCSB011521_02 matrix metallopeptidase 19 (MMP19) gene, encodes complete protein.
KJ891630 - Synthetic construct Homo sapiens clone ccsbBroadEn_01024 MMP19 gene, encodes complete protein.
JD325635 - Sequence 306659 from Patent EP1572962.
JD323594 - Sequence 304618 from Patent EP1572962.
JD145281 - Sequence 126305 from Patent EP1572962.
JD145354 - Sequence 126378 from Patent EP1572962.
JD308531 - Sequence 289555 from Patent EP1572962.
JD524305 - Sequence 505329 from Patent EP1572962.
JD233194 - Sequence 214218 from Patent EP1572962.
JD297812 - Sequence 278836 from Patent EP1572962.
JD207804 - Sequence 188828 from Patent EP1572962.
CU690648 - Synthetic construct Homo sapiens gateway clone IMAGE:100021468 5' read MMP19 mRNA.
JD248463 - Sequence 229487 from Patent EP1572962.
JD108657 - Sequence 89681 from Patent EP1572962.
JD276775 - Sequence 257799 from Patent EP1572962.
AK297999 - Homo sapiens cDNA FLJ60740 complete cds, moderately similar to Matrix metalloproteinase-19 precursor (EC 3.4.24.-).
JD158369 - Sequence 139393 from Patent EP1572962.
JD124034 - Sequence 105058 from Patent EP1572962.
JD444474 - Sequence 425498 from Patent EP1572962.
JD445007 - Sequence 426031 from Patent EP1572962.
JD496251 - Sequence 477275 from Patent EP1572962.
JD210587 - Sequence 191611 from Patent EP1572962.
JD180722 - Sequence 161746 from Patent EP1572962.
JD492593 - Sequence 473617 from Patent EP1572962.
JD147745 - Sequence 128769 from Patent EP1572962.

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

Protein Q99542 (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-3791319 NID1 degradation by MMP19
R-HSA-1566981 Fibronectin degradation by MMP1, 3, 7, 12, 13, 19, CTSS
R-HSA-3791149 Brevican degradation by MMP1, 2, 3, 7,8,10,13,19
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: MMP18, MMP19_HUMAN, NM_002429, NP_002420, O15278, O95606, Q99542, Q99580, RASI, uc001sib.3
UCSC ID: uc001sib.4
RefSeq Accession: NM_002429
Protein: Q99542 (aka MMP19_HUMAN or MM19_HUMAN)
CCDS: CCDS8895.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002429.5
exon count: 9CDS single in 3' UTR: no RNA size: 3294
ORF size: 1527CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 3254.00frame shift in genome: no % Coverage: 99.76
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.