Human Gene MMP3 (ENST00000299855.10) from GENCODE V44
  Description: Homo sapiens matrix metallopeptidase 3 (MMP3), mRNA. (from RefSeq NM_002422)
RefSeq Summary (NM_002422): 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. This gene encodes an enzyme which degrades fibronectin, laminin, collagens III, IV, IX, and X, and cartilage proteoglycans. The enzyme is thought to be involved in wound repair, progression of atherosclerosis, and tumor initiation. The gene is part of a cluster of MMP genes which localize to chromosome 11q22.3. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000299855.10
Gencode Gene: ENSG00000149968.12
Transcript (Including UTRs)
   Position: hg38 chr11:102,835,801-102,843,609 Size: 7,809 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg38 chr11:102,836,126-102,843,546 Size: 7,421 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:102,835,801-102,843,609)mRNA (may differ from genome)Protein (477 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MMP3_HUMAN
DESCRIPTION: RecName: Full=Stromelysin-1; Short=SL-1; EC=3.4.24.17; AltName: Full=Matrix metalloproteinase-3; Short=MMP-3; AltName: Full=Transin-1; Flags: Precursor;
FUNCTION: Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase.
CATALYTIC ACTIVITY: Preferential cleavage where P1', P2' and P3' are hydrophobic residues.
COFACTOR: Binds 4 calcium ions per subunit.
COFACTOR: Binds 2 zinc ions per subunit.
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix (Probable).
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.
DISEASE: Defects in MMP3 are the cause of susceptibility to coronary heart disease type 6 (CHDS6) [MIM:614466]. A multifactorial disease characterized by an imbalance between myocardial functional requirements and the capacity of the coronary vessels to supply sufficient blood flow. Decreased capacity of the coronary vessels is often associated with thickening and loss of elasticity of the coronary arteries. Note=A polymorphism in the MMP3 promoter region is associated with the risk of coronary heart disease and myocardial infarction, due to lower MMP3 proteolytic activity and higher extracellular matrix deposition in atherosclerotic lesions.
SIMILARITY: Belongs to the peptidase M10A family.
SIMILARITY: Contains 4 hemopexin-like domains.
WEB RESOURCE: Name=SeattleSNPs; URL="http://pga.gs.washington.edu/data/mmp3/";

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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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: MMP3
Diseases sorted by gene-association score: coronary heart disease 6* (594), arthritis (53), conjunctivochalasis (31), synovitis (23), lymph node disease (22), rheumatoid nodulosis (18), rheumatoid lung disease (14), epidermolysis bullosa dystrophica (14), superior limbic keratoconjunctivitis (13), septic arthritis (13), coronary artery aneurysm (12), spondylolisthesis (12), gingival hypertrophy (12), rheumatoid arthritis (12), frozen shoulder (11), spinal stenosis (11), abdominal aortic aneurysm (10), spastic entropion (10), osteoarthritis (10), bone deterioration disease (10), gingival overgrowth (9), spondyloarthropathy 1 (9), sorsby fundus dystrophy (9), buerger disease (9), psoriatic arthritis (8), tendinopathy (8), moyamoya disease (8), spondyloarthropathy (8), bone structure disease (7), kawasaki disease (7), corneal ulcer (7), hydrarthrosis (7), corneal edema (7), joint disorders (6), osteochondritis dissecans (6), h. pylori infection (6), tendinosis (6), arteriovenous malformation (6), gingival fibromatosis (6), adult astrocytic tumour (6), takayasu arteritis (6), blepharochalasis (6), bone inflammation disease (6), gastroschisis (5), atherosclerosis (5), osteoarthritis-5 (5), multiple cranial nerve palsy (5), degenerative disc disease (4), myocardial infarction (4), ideomotor apraxia (4), periodontal disease (4), fundus dystrophy (3), endometriosis (3), chondrosarcoma (3), heart disease (3), periodontitis (3), endometrial stromal sarcoma (1), tetralogy of fallot (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 115.69 RPKM in Minor Salivary Gland
Total median expression: 159.11 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 -6.1063-0.097 Picture PostScript Text
3' UTR -87.00325-0.268 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:
PF00045 - Hemopexin
PF00413 - Matrixin
PF01471 - Putative peptidoglycan binding domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1B3D - X-ray MuPIT 1B8Y - X-ray MuPIT 1BIW - X-ray MuPIT 1BM6 - NMR MuPIT 1BQO - X-ray MuPIT 1C3I - X-ray MuPIT 1C8T - X-ray MuPIT 1CAQ - X-ray MuPIT 1CIZ - X-ray MuPIT 1CQR - X-ray MuPIT 1D5J - X-ray 1D7X - X-ray MuPIT 1D8F - X-ray MuPIT 1D8M - X-ray MuPIT 1G05 - X-ray MuPIT 1G49 - X-ray MuPIT 1G4K - X-ray MuPIT 1HFS - X-ray MuPIT 1HY7 - X-ray MuPIT 1M1W - Model 1OO9 - NMR MuPIT 1QIA - X-ray MuPIT 1QIC - X-ray MuPIT 1SLM - X-ray MuPIT 1SLN - X-ray MuPIT 1UEA - X-ray MuPIT 1UMS - NMR MuPIT 1UMT - NMR MuPIT 1USN - X-ray MuPIT 2D1O - X-ray MuPIT 2JNP - NMR MuPIT 2JT5 - NMR MuPIT 2JT6 - NMR MuPIT 2SRT - NMR MuPIT 2USN - X-ray MuPIT 3OHL - X-ray MuPIT 3OHO - X-ray MuPIT 3USN - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P08254
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-  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
Genome BrowserNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGI     
Protein Sequence     
Alignment     

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004175 endopeptidase activity
GO:0004222 metalloendopeptidase activity
GO:0004252 serine-type endopeptidase activity
GO:0005515 protein binding
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:0006508 proteolysis
GO:0010727 negative regulation of hydrogen peroxide metabolic process
GO:0019221 cytokine-mediated signaling pathway
GO:0022617 extracellular matrix disassembly
GO:0030574 collagen catabolic process
GO:0032461 positive regulation of protein oligomerization
GO:0071732 cellular response to nitric oxide
GO:1903209 positive regulation of oxidative stress-induced cell death

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LF208368 - JP 2014500723-A/15871: Polycomb-Associated Non-Coding RNAs.
MA443945 - JP 2018138019-A/15871: Polycomb-Associated Non-Coding RNAs.
X05232 - Human mRNA for stromelysin.
AK223291 - Homo sapiens mRNA for matrix metalloproteinase 3 preproprotein variant, clone: SYN04583.
AK223283 - Homo sapiens mRNA for matrix metalloproteinase 3 preproprotein variant, clone: SYN03389.
LF375546 - JP 2014500723-A/183049: Polycomb-Associated Non-Coding RNAs.
MA611123 - JP 2018138019-A/183049: Polycomb-Associated Non-Coding RNAs.
JD356046 - Sequence 337070 from Patent EP1572962.
BC069716 - Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase), mRNA (cDNA clone MGC:97338 IMAGE:7262590), complete cds.
BC069676 - Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase), mRNA (cDNA clone MGC:97329 IMAGE:7262578), complete cds.
BC105954 - Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase), mRNA (cDNA clone MGC:126104 IMAGE:40033171), complete cds.
BC107490 - Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase), mRNA (cDNA clone MGC:126102 IMAGE:40033168), complete cds.
BC107491 - Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase), mRNA (cDNA clone MGC:126103 IMAGE:40033170), complete cds.
LF375545 - JP 2014500723-A/183048: Polycomb-Associated Non-Coding RNAs.
MA611122 - JP 2018138019-A/183048: Polycomb-Associated Non-Coding RNAs.
JD501437 - Sequence 482461 from Patent EP1572962.
JD062630 - Sequence 43654 from Patent EP1572962.
BC074815 - Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase), mRNA (cDNA clone MGC:103927 IMAGE:30915319), complete cds.
BC074869 - Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase), mRNA (cDNA clone MGC:104024 IMAGE:30915468), complete cds.
LF375544 - JP 2014500723-A/183047: Polycomb-Associated Non-Coding RNAs.
MA611121 - JP 2018138019-A/183047: Polycomb-Associated Non-Coding RNAs.
J03209 - Human matrix metalloproteinase-3 (MMP-3) mRNA, complete cds.
AK313310 - Homo sapiens cDNA, FLJ93823, Homo sapiens matrix metalloproteinase 3 (stromelysin 1,progelatinase) (MMP3), mRNA.
HQ447430 - Synthetic construct Homo sapiens clone IMAGE:100070757; CCSB014024_04 matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3) gene, encodes complete protein.
KJ897195 - Synthetic construct Homo sapiens clone ccsbBroadEn_06589 MMP3 gene, encodes complete protein.
LF375543 - JP 2014500723-A/183046: Polycomb-Associated Non-Coding RNAs.
MA611120 - JP 2018138019-A/183046: Polycomb-Associated Non-Coding RNAs.
LF375542 - JP 2014500723-A/183045: Polycomb-Associated Non-Coding RNAs.
MA611119 - JP 2018138019-A/183045: Polycomb-Associated Non-Coding RNAs.
LF375541 - JP 2014500723-A/183044: Polycomb-Associated Non-Coding RNAs.
MA611118 - JP 2018138019-A/183044: Polycomb-Associated Non-Coding RNAs.
CU686970 - Synthetic construct Homo sapiens gateway clone IMAGE:100022630 5' read MMP3 mRNA.
LF375540 - JP 2014500723-A/183043: Polycomb-Associated Non-Coding RNAs.
MA611117 - JP 2018138019-A/183043: Polycomb-Associated Non-Coding RNAs.
LF375539 - JP 2014500723-A/183042: Polycomb-Associated Non-Coding RNAs.
MA611116 - JP 2018138019-A/183042: Polycomb-Associated Non-Coding RNAs.
LF375538 - JP 2014500723-A/183041: Polycomb-Associated Non-Coding RNAs.
MA611115 - JP 2018138019-A/183041: Polycomb-Associated Non-Coding RNAs.
LF375537 - JP 2014500723-A/183040: Polycomb-Associated Non-Coding RNAs.
LF375551 - JP 2014500723-A/183054: Polycomb-Associated Non-Coding RNAs.
MA611114 - JP 2018138019-A/183040: Polycomb-Associated Non-Coding RNAs.
MA611128 - JP 2018138019-A/183054: Polycomb-Associated Non-Coding RNAs.
LF375536 - JP 2014500723-A/183039: Polycomb-Associated Non-Coding RNAs.
MA611113 - JP 2018138019-A/183039: Polycomb-Associated Non-Coding RNAs.
LF375535 - JP 2014500723-A/183038: Polycomb-Associated Non-Coding RNAs.
MA611112 - JP 2018138019-A/183038: Polycomb-Associated Non-Coding RNAs.
DQ399598 - Homo sapiens matrix metalloproteinase 3 (MMP3) mRNA, partial cds.
LF375534 - JP 2014500723-A/183037: Polycomb-Associated Non-Coding RNAs.
MA611111 - JP 2018138019-A/183037: Polycomb-Associated Non-Coding RNAs.
JD496354 - Sequence 477378 from Patent EP1572962.
LF375533 - JP 2014500723-A/183036: Polycomb-Associated Non-Coding RNAs.
MA611110 - JP 2018138019-A/183036: Polycomb-Associated Non-Coding RNAs.

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

Protein P08254 (Reactome details) participates in the following event(s):

R-HSA-1604731 Autocatalytic activation of MMP3
R-HSA-1592371 Initial activation of proMMP3
R-HSA-1454781 MMP1,3,13 (2, 7-12, 19) binding by Alpha-2 macroglubulin
R-HSA-2179402 Active MMP3 can cleave pro-HBEGF to form active HBEGF
R-HSA-1592297 Full activation of MMP1
R-HSA-1474197 Collagen type II degradation by MMP1,3,8,13,PRSS2
R-HSA-1564142 Collagen type IV degradation by MMP2,3,4,9,10,12
R-HSA-1564120 Collagen type VII degradation by MMP1,2,3
R-HSA-1564184 Collagen type IX degradation by MMP3,13
R-NUL-2482219 Collagen type IX degradation
R-HSA-1564179 Collagen type XI degradation by MMP1,2,3,9
R-NUL-2484859 Collagen type XI degradation by MMP1,2,3,9
R-HSA-2168923 Collagen type XVIII endostatin release
R-NUL-2484854 Collagen type X degradation by MMP3, 13
R-HSA-2484882 Collagen type X degradation by MMP3, 13
R-HSA-1566962 Elastin degradation by elastin-degrading extracellular proteinases
R-HSA-1592362 Activation of proMMP7 by MMP3
R-HSA-1604752 Initial activation of proMMP13 by MMP3
R-HSA-2514772 Fibrillin-1 degradation by MMP3, CTSK, CTSL2
R-HSA-1566981 Fibronectin degradation by MMP1, 3, 7, 12, 13, 19, CTSS
R-HSA-2533970 NID1 degradation by MMP3, 7
R-HSA-4086205 OPN (osteopontin) degradation by MMP3, MMP7
R-HSA-1592314 HSPG2 (perlecan) degradation by MMP3, plasmin, (MMP12)
R-HSA-2534248 DCN (decorin) degradation by MMP2, MMP3, MMP7
R-HSA-1454843 E-cadherin degradation by MMP3, MMP7 and plasmin.
R-NUL-2534162 E-cadherin strand dimer degradation by MMP3, MMP7 and Plasmin
R-HSA-3791149 Brevican degradation by MMP1, 2, 3, 7,8,10,13,19
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-1592436 Initial activation of proMMP9 by MMPs
R-HSA-1604690 Activation of MMP9 intermediate form by MMPs
R-HSA-2213200 Release of endostatin-like peptides
R-HSA-1566979 Laminin-332 degradation by laminin-322 degrading extracellular proteinases
R-HSA-1592389 Activation of Matrix Metalloproteinases
R-HSA-2179392 EGFR Transactivation by Gastrin
R-HSA-1474228 Degradation of the extracellular matrix
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-881907 Gastrin-CREB signalling pathway via PKC and MAPK
R-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization
R-HSA-449147 Signaling by Interleukins
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-416476 G alpha (q) signalling events
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-1474290 Collagen formation
R-HSA-388396 GPCR downstream signalling
R-HSA-168256 Immune System
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8B8, ENST00000299855.1, ENST00000299855.2, ENST00000299855.3, ENST00000299855.4, ENST00000299855.5, ENST00000299855.6, ENST00000299855.7, ENST00000299855.8, ENST00000299855.9, MMP3_HUMAN, NM_002422, P08254, Q3B7S0, Q6GRF8, STMY1, uc001phj.1, uc001phj.2, uc001phj.3
UCSC ID: ENST00000299855.10
RefSeq Accession: NM_002422
Protein: P08254 (aka MMP3_HUMAN or MM03_HUMAN)
CCDS: CCDS8323.1

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