Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4316
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol MMP7   Gene   UCSC   Ensembl
Aliases MMP-7, MPSL1, PUMP-1
Gene name matrix metallopeptidase 7
Alternate names matrilysin, matrin, matrix metallopeptidase 7 (matrilysin, uterine), matrix metalloproteinase 7 (matrilysin, uterine), matrix metalloproteinase-7, pump-1 protease, uterine matrilysin, uterine metalloproteinase,
Gene location 11q22.2 (102530752: 102520507)     Exons: 6     NC_000011.10
Gene summary(Entrez) This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this 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. The encoded preproprotein is proteolytically processed to generate the mature protease. This secreted protease breaks down proteoglycans, fibronectin, elastin and casein and differs from most MMP family members in that it lacks a conserved C-terminal hemopexin domain. The enzyme is involved in wound healing, and studies in mice suggest that it regulates the activity of defensins in intestinal mucosa. The gene is part of a cluster of MMP genes on chromosome 11. This gene exhibits elevated expression levels in multiple human cancers. [provided by RefSeq, Jan 2016]
OMIM 178990

SNPs

rs11568818

Strand:    Allele origin:   Allele change: A/G/T   Mutation type: snp

CM000673.2   g.102530930T>A
CM000673.2   g.102530930T>C
NC_000011.10   g.102530930T>A
NC_000011.10   g.102530930T>C
NC_000011.9   g.102401661T>C
NM_002423.4   c.-230A>G
NM_002423.4   c.-230A>T

Protein Summary

Protein general information P09237  

Name: Matrilysin (EC 3.4.24.23) (Matrin) (Matrix metalloproteinase 7) (MMP 7) (Pump 1 protease) (Uterine metalloproteinase)

Length: 267  Mass: 29,677

Sequence MRLTVLCAVCLLPGSLALPLPQEAGGMSELQWEQAQDYLKRFYLYDSETKNANSLEAKLKEMQKFFGLPITGMLN
SRVIEIMQKPRCGVPDVAEYSLFPNSPKWTSKVVTYRIVSYTRDLPHITVDRLVSKALNMWGKEIPLHFRKVVWG
TADIMIGFARGAHGDSYPFDGPGNTLAHAFAPGTGLGGDAHFDEDERWTDGSSLGINFLYAATHELGHSLGMGHS
SDPNAVMYPTYGNGDPQNFKLSQDDIKGIQKLYGKRSNSRKK
Structural information

Motifs
Cysteine switch.(85-92)
Interpro:  IPR033739 IPR028707 IPR024079 IPR001818 IPR021190 IPR021158 IPR006026 IPR002477
Prosite:   PS00546 PS00142

Pfam:  
PF00413 PF01471
CDD:   cd04278

PDB:  
1MMP 1MMQ 1MMR 2DDY 2MZE 2MZH 2MZI 2Y6C 2Y6D
PDBsum:   1MMP 1MMQ 1MMR 2DDY 2MZE 2MZH 2MZI 2Y6C 2Y6D
MINT:   7709639
STRING:   ENSP00000260227;
Other Databases GeneCards:  MMP7;  Malacards:  MMP7

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0004222 metalloendopeptidase acti
vity
IEA molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0007568 aging
IEA biological_process
GO:0008201 heparin binding
IEA molecular_function
GO:0008270 zinc ion binding
IEA molecular_function
GO:0009986 cell surface
IEA cellular_component
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0030574 collagen catabolic proces
s
TAS biological_process
GO:0031667 response to nutrient leve
ls
IEA biological_process
GO:0044849 estrous cycle
IEA biological_process
GO:0060135 maternal process involved
in female pregnancy
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071260 cellular response to mech
anical stimulus
IEA biological_process
GO:0004222 metalloendopeptidase acti
vity
IEA molecular_function
GO:0004222 metalloendopeptidase acti
vity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0005576 extracellular region
IEA cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005578 proteinaceous extracellul
ar matrix
IEA cellular_component
GO:0005615 extracellular space
IEA cellular_component
GO:0005615 extracellular space
TAS cellular_component
GO:0006508 proteolysis
IEA biological_process
GO:0006508 proteolysis
IEA biological_process
GO:0006508 proteolysis
TAS biological_process
GO:0007568 aging
IEA biological_process
GO:0008201 heparin binding
IEA molecular_function
GO:0008233 peptidase activity
IEA molecular_function
GO:0008237 metallopeptidase activity
IEA molecular_function
GO:0008237 metallopeptidase activity
IEA molecular_function
GO:0008270 zinc ion binding
IEA molecular_function
GO:0009986 cell surface
IEA cellular_component
GO:0016787 hydrolase activity
IEA molecular_function
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0030574 collagen catabolic proces
s
IEA biological_process
GO:0030574 collagen catabolic proces
s
TAS biological_process
GO:0031012 extracellular matrix
IEA cellular_component
GO:0031667 response to nutrient leve
ls
IEA biological_process
GO:0044849 estrous cycle
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0060135 maternal process involved
in female pregnancy
IEA biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component
GO:0071260 cellular response to mech
anical stimulus
IEA biological_process
GO:0004222 metalloendopeptidase acti
vity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0004252 serine-type endopeptidase
activity
TAS molecular_function
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005576 extracellular region
TAS cellular_component
GO:0005615 extracellular space
TAS cellular_component
GO:0006508 proteolysis
TAS biological_process
GO:0022617 extracellular matrix disa
ssembly
TAS biological_process
GO:0030574 collagen catabolic proces
s
TAS biological_process
GO:0070062 extracellular exosome
IDA cellular_component
GO:0070062 extracellular exosome
IDA cellular_component

KEGG pathways

hsa04310  Wnt signaling pathway
PTHR10201:SF143  CCKR signaling map
PTHR10201:SF143  CCKR signaling map
PTHR10201:SF143  CCKR signaling map
PTHR10201:SF143  CCKR signaling map

Diseases

Associated diseases References
Abnormal sperm PMID: 15979995
cancer PMID: 15930031
Endometriosis PMID: 16455621
Genital endometriosis PMID: 25711032
Glomerulonephritis PMID: 19420105
Implantation failure PMID: 18077318
Multiple sclerosis PMID: 18563468
Endometriosis INFBASE27620811
Genital endometriosis INFBASE25711032
Adenomyosis INFBASE16455621
Rheumatoid arthritis PMID: 16356191
Adenomyosis PMID: 16455621

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
21111772 Endometrio
sis


Female infertility PGE2
COX-2
MMP1
MMP2
MMP3
MMP7
MMP9
TIMP1
TIMP2
TIMP3
TIMP4
Show abstract
25711032 Endometrio
sis (Genit
al)
MMP3 (rs3025058), MMP7 (rs11568818), MMP9 (rs17576, rs2250889), MMP12 (rs2276109), and MMP13 (rs2252070)

MMP3
MMP7
MMP9
MMP12
MMP13
Show abstract
20007614 Endometrio
sis

71 (13 samples
of deep infiltr
ating endometri
osis, 11 sample
s of ovarian en
dometriosis, 23
samples of bla
ck peritoneal l
esions, 24 samp
les of red peri
toneal lesions)
MMP-7
Show abstract
16455621 Endometrio
sis
MMP-7 (181A/G), MMP-9 (1562C/T) Chinese
379 (219 patien
ts (143 women w
ith endometrios
is, 76 women wi
th adenomyosis)
, 160 control w
omen)
Female infertility MMP-7
MMP-9
Show abstract
27620811 Endometrio
sis
MMP1 (-1607 1G>2G polymorphism), MMP-2 (15918 T>C, -753 C>T), MMP7 (-181 A>G), MMP9 (-1562 C>T, R279Q) English
, Chine
se
4023 (1833 pati
ents, 2190 cont
rols)
MMP9
MMP7
MMP2
MMP1
Show abstract