Gene: MMP9

Basic information

Tag Content
Uniprot ID P14780; B2R7V9; Q3LR70; Q8N725; Q9H4Z1; Q9UCJ9; Q9UCL1; Q9UDK2;
Entrez ID 4318
Genbank protein ID ABA03169.1; BAG35956.1; AAA51539.1; BAA20967.1; AAH06093.1; AAM97934.1;
Genbank nucleotide ID NM_004994.2
Ensembl protein ID ENSP00000361405
Ensembl nucleotide ID ENSG00000100985
Gene name Matrix metalloproteinase-9
Gene symbol MMP9
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 21462296
Functional description May play an essential role in local proteolysis of the extracellular matrix and in leukocyte migration. Could play a role in bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leu bond. Cleaves type IV and type V collagen into large C-terminal three quarter fragments and shorter N-terminal one quarter fragments. Degrades fibronectin but not laminin or Pz-peptide.
Sequence
MSLWQPLVLV LLVLGCCFAA PRQRQSTLVL FPGDLRTNLT DRQLAEEYLY RYGYTRVAEM 60
RGESKSLGPA LLLLQKQLSL PETGELDSAT LKAMRTPRCG VPDLGRFQTF EGDLKWHHHN 120
ITYWIQNYSE DLPRAVIDDA FARAFALWSA VTPLTFTRVY SRDADIVIQF GVAEHGDGYP 180
FDGKDGLLAH AFPPGPGIQG DAHFDDDELW SLGKGVVVPT RFGNADGAAC HFPFIFEGRS 240
YSACTTDGRS DGLPWCSTTA NYDTDDRFGF CPSERLYTQD GNADGKPCQF PFIFQGQSYS 300
ACTTDGRSDG YRWCATTANY DRDKLFGFCP TRADSTVMGG NSAGELCVFP FTFLGKEYST 360
CTSEGRGDGR LWCATTSNFD SDKKWGFCPD QGYSLFLVAA HEFGHALGLD HSSVPEALMY 420
PMYRFTEGPP LHKDDVNGIR HLYGPRPEPE PRPPTTTTPQ PTAPPTVCPT GPPTVHPSER 480
PTAGPTGPPS AGPTGPPTAG PSTATTVPLS PVDDACNVNI FDAIAEIGNQ LYLFKDGKYW 540
RFSEGRGSRP QGPFLIADKW PALPRKLDSV FEERLSKKLF FFSGRQVWVY TGASVLGPRR 600
LDKLGLGADV AQVTGALRSG RGKMLLFSGR RLWRFDVKAQ MVDPRSASEV DRMFPGVPLD 660
THDVFQYREK AYFCQDRFYW RVSSRSELNQ VDQVGYVTYD ILQCPED 707

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologMMP9F1P6A2Canis lupus familiarisPredictionMore>>
1:1 orthologMMP9A0A452EYC3Capra hircusPredictionMore>>
1:1 orthologMMP94318P14780Homo sapiensPublicationMore>>
1:1 orthologMmp917395P41245E12.5, E13.5, E14.5Mus musculusPredictionMore>>
1:1 orthologMMP9458294H2QKI0Pan troglodytesPredictionMore>>
1:1 orthologMMP9A0A287AZD5Sus scrofaPredictionMore>>
1:1 orthologMmp9D3ZYK8Rattus norvegicusPredictionMore>>
1:1 orthologmmp9F1QC76Danio rerioPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
MMP9rs17576A>GGenotyping21462296
MMP9rs6094237A>TGenotyping21462296

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0004175 endopeptidase activityIDA
GO:0004222 metalloendopeptidase activityIDA
GO:0004222 metalloendopeptidase activityIBA
GO:0004222 metalloendopeptidase activityTAS
GO:0004252 serine-type endopeptidase activityEXP
GO:0005515 protein bindingIPI
GO:0005518 collagen bindingTAS
GO:0008233 peptidase activityIDA
GO:0008237 metallopeptidase activityIDA
GO:0008270 zinc ion bindingTAS
GO:0042802 identical protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0001501 skeletal system developmentIEA
GO:0001934 positive regulation of protein phosphorylationIMP
GO:0006508 proteolysisIDA
GO:0007566 embryo implantationIEA
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0022617 extracellular matrix disassemblyTAS
GO:0030198 extracellular matrix organizationIBA
GO:0030225 macrophage differentiationTAS
GO:0030335 positive regulation of cell migrationTAS
GO:0030335 positive regulation of cell migrationIGI
GO:0030574 collagen catabolic processIBA
GO:0030574 collagen catabolic processTAS
GO:0034614 cellular response to reactive oxygen speciesIDA
GO:0035987 endodermal cell differentiationIEP
GO:0043066 negative regulation of apoptotic processIMP
GO:0043312 neutrophil degranulationTAS
GO:0043388 positive regulation of DNA bindingIDA
GO:0045742 positive regulation of epidermal growth factor receptor signaling pathwayIMP
GO:0048013 ephrin receptor signaling pathwayTAS
GO:0051549 positive regulation of keratinocyte migrationIMP
GO:0071276 cellular response to cadmium ionIDA
GO:0090200 positive regulation of release of cytochrome c from mitochondriaIMP
GO:0150077 regulation of neuroinflammatory responseTAS
GO:1900122 positive regulation of receptor bindingIDA
GO:1904645 response to amyloid-betaISS
GO:1904707 positive regulation of vascular smooth muscle cell proliferationIMP
GO:2000697 negative regulation of epithelial cell differentiation involved in kidney developmentISS
GO:2001243 negative regulation of intrinsic apoptotic signaling pathwayIMP
GO:2001258 negative regulation of cation channel activityIDA
GO:2001268 negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathwayIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionHDA
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIBA
GO:0005615 extracellular spaceIDA
GO:0062023 collagen-containing extracellular matrixHDA
GO:0070062 extracellular exosomeHDA
GO:1904724 tertiary granule lumenTAS
GO:1904813 ficolin-1-rich granule lumenTAS

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1433557 Signaling by SCF-KITTAS
R-HSA-1442490 Collagen degradationIEA
R-HSA-1442490 Collagen degradationTAS
R-HSA-1474228 Degradation of the extracellular matrixTAS
R-HSA-1474228 Degradation of the extracellular matrixIEA
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1474244 Extracellular matrix organizationIEA
R-HSA-1474290 Collagen formationTAS
R-HSA-1592389 Activation of Matrix MetalloproteinasesTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-168249 Innate Immune SystemTAS
R-HSA-168256 Immune SystemTAS
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structuresTAS
R-HSA-2682334 EPH-Ephrin signalingTAS
R-HSA-3928665 EPH-ephrin mediated repulsion of cellsTAS
R-HSA-422475 Axon guidanceTAS
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-6785807 Interleukin-4 and Interleukin-13 signalingTAS
R-HSA-6798695 Neutrophil degranulationTAS
R-HSA-8939211 ESR-mediated signalingTAS
R-HSA-9006931 Signaling by Nuclear ReceptorsTAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9009391 Extra-nuclear estrogen signalingTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0106 Calcium
KW-0177 Collagen degradation
KW-0903 Direct protein sequencing
KW-1015 Disulfide bond
KW-0272 Extracellular matrix
KW-0325 Glycoprotein
KW-0378 Hydrolase
KW-0479 Metal-binding
KW-0482 Metalloprotease
KW-0621 Polymorphism
KW-0645 Protease
KW-1185 Reference proteome
KW-0677 Repeat
KW-0964 Secreted
KW-0732 Signal
KW-0862 Zinc
KW-0865 Zymogen

Interpro

InterPro ID InterPro Term
IPR000562 FN_type2_dom
IPR036943 FN_type2_sf
IPR000585 Hemopexin-like_dom
IPR036375 Hemopexin-like_dom_sf
IPR018487 Hemopexin-like_repeat
IPR018486 Hemopexin_CS
IPR013806 Kringle-like
IPR033739 M10A_MMP
IPR024079 MetalloPept_cat_dom_sf
IPR001818 Pept_M10_metallopeptidase
IPR021190 Pept_M10A
IPR021158 Pept_M10A_Zn_BS
IPR006026 Peptidase_Metallo
IPR002477 Peptidoglycan-bd-like
IPR036365 PGBD-like_sf
IPR036366 PGBDSf

PROSITE

PROSITE ID PROSITE Term
PS00546 CYSTEINE_SWITCH
PS00023 FN2_1
PS51092 FN2_2
PS00024 HEMOPEXIN
PS51642 HEMOPEXIN_2
PS00142 ZINC_PROTEASE

Pfam

Pfam ID Pfam Term
PF00040 fn2
PF00045 Hemopexin
PF00413 Peptidase_M10
PF01471 PG_binding_1

Protein-protein interaction

Protein-miRNA interaction