Gene: MMP3

Basic information

Tag Content
Uniprot ID P08254; B2R8B8; Q3B7S0; Q6GRF8;
Entrez ID 4314
Genbank protein ID AAI07492.1; AAA36321.1; CAA28859.1; AAI05955.1; AAI07491.1; BAD97011.1; AAB36942.1; AAH69716.1; AAK95247.1; AAH74815.1; BAD97003.1; AAH69676.1; AAH74869.1; BAG36115.1; EAW67032.1;
Genbank nucleotide ID NM_002422.4
Ensembl protein ID ENSP00000299855
Ensembl nucleotide ID ENSG00000149968
Gene name Stromelysin-1
Gene symbol MMP3
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type CPO,CL/P
Developmental stage
Data sources Manually collected
Reference 17537400
Functional description Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase.
Sequence
MKSLPILLLL CVAVCSAYPL DGAARGEDTS MNLVQKYLEN YYDLKKDVKQ FVRRKDSGPV 60
VKKIREMQKF LGLEVTGKLD SDTLEVMRKP RCGVPDVGHF RTFPGIPKWR KTHLTYRIVN 120
YTPDLPKDAV DSAVEKALKV WEEVTPLTFS RLYEGEADIM ISFAVREHGD FYPFDGPGNV 180
LAHAYAPGPG INGDAHFDDD EQWTKDTTGT NLFLVAAHEI GHSLGLFHSA NTEALMYPLY 240
HSLTDLTRFR LSQDDINGIQ SLYGPPPDSP ETPLVPTEPV PPEPGTPANC DPALSFDAVS 300
TLRGEILIFK DRHFWRKSLR KLEPELHLIS SFWPSLPSGV DAAYEVTSKD LVFIFKGNQF 360
WAIRGNEVRA GYPRGIHTLG FPPTVRKIDA AISDKEKNKT YFFVEDKYWR FDEKRNSMEP 420
GFPKQIAEDF PGIDSKIDAV FEEFGFFYFF TGSSQLEFDP NAKKVTHTLK SNSWLNC 477

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 information

Gene expression in different tissues (GTEx V7)

  

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 orthologMMP3403445Q6Y4Q5Canis lupus familiarisPredictionMore>>
1:1 orthologMMP3102170893A0A452FPV6Capra hircusPredictionMore>>
1:1 orthologMMP3100034195Q28397Equus caballusPredictionMore>>
1:1 orthologMMP34314P08254CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologMmp317392Q922W6E12.5, E13.5, E14.5Mus musculusPredictionMore>>
1:1 orthologMMP3451511H2Q4N2Pan troglodytesPredictionMore>>
1:1 orthologMMP3F1SV58Sus scrofaPredictionMore>>
1:1 orthologMmp3F1LPL9Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
MMP3rs3025058; -1171 5A>6ASequencing; SSCP; PCR-RFLP29738289
MMP3-1171-5A allelePCR17537400

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 activityIBA
GO:0004252 serine-type endopeptidase activityTAS
GO:0005515 protein bindingIPI
GO:0008233 peptidase activityIDA
GO:0008237 metallopeptidase activityIDA
GO:0008270 zinc ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0006508 proteolysisIDA
GO:0010727 negative regulation of hydrogen peroxide metabolic processIDA
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0022617 extracellular matrix disassemblyTAS
GO:0030198 extracellular matrix organizationIBA
GO:0030574 collagen catabolic processIBA
GO:0030574 collagen catabolic processTAS
GO:0031334 positive regulation of protein-containing complex assemblyIDA
GO:0071732 cellular response to nitric oxideTAS
GO:0150077 regulation of neuroinflammatory responseTAS
GO:1903209 positive regulation of oxidative stress-induced cell deathISS
GO:1904645 response to amyloid-betaTAS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceTAS
GO:0031012 extracellular matrixIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1442490 Collagen degradationTAS
R-HSA-1442490 Collagen degradationIEA
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 TransductionIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-168256 Immune SystemTAS
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structuresTAS
R-HSA-2179392 EGFR Transactivation by GastrinIEA
R-HSA-2179392 EGFR Transactivation by GastrinTAS
R-HSA-372790 Signaling by GPCRIEA
R-HSA-372790 Signaling by GPCRTAS
R-HSA-388396 GPCR downstream signallingIEA
R-HSA-388396 GPCR downstream signallingTAS
R-HSA-416476 G alpha (q) signalling eventsIEA
R-HSA-416476 G alpha (q) signalling eventsTAS
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-6785807 Interleukin-4 and Interleukin-13 signalingTAS
R-HSA-881907 Gastrin-CREB signalling pathway via PKC and MAPKIEA
R-HSA-881907 Gastrin-CREB signalling pathway via PKC and MAPKTAS
R-HSA-8939211 ESR-mediated signalingTAS
R-HSA-9006931 Signaling by Nuclear ReceptorsTAS
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-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
IPR000585 Hemopexin-like_dom
IPR036375 Hemopexin-like_dom_sf
IPR018487 Hemopexin-like_repeat
IPR018486 Hemopexin_CS
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

PROSITE

PROSITE ID PROSITE Term
PS00546 CYSTEINE_SWITCH
PS00024 HEMOPEXIN
PS51642 HEMOPEXIN_2
PS00142 ZINC_PROTEASE

Pfam

Pfam ID Pfam Term
PF00045 Hemopexin
PF00413 Peptidase_M10
PF01471 PG_binding_1

Protein-protein interaction

Protein-miRNA interaction