Endometriosis Knowledgebase

Search Result

Gene id

4312

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MMP1 Gene UCSC Ensembl

Aliases

CLG, CLGN

Gene name

matrix metallopeptidase 1

Alternate names

interstitial collagenase, fibroblast collagenase, matrix metallopeptidase 1 (interstitial collagenase), matrix metalloprotease 1, matrix metalloproteinase 1,

Gene location

11q22.2 (102798234: 102789909) Exons: 10 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 the interstitial collagens, including types I, II, and III. The gene is part of a cluster of MMP genes on chromosome 11. Mutations in this gene are associated with chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

OMIM

120353

Protein Summary

Protein general information

P03956

Name: Interstitial collagenase (EC 3.4.24.7) (Fibroblast collagenase) (Matrix metalloproteinase 1) (MMP 1) [Cleaved into: 22 kDa interstitial collagenase; 27 kDa interstitial collagenase]

Length: 469 Mass: 54,007

Sequence

MHSFPPLLLLLFWGVVSHSFPATLETQEQDVDLVQKYLEKYYNLKNDGRQVEKRRNSGPVVEKLKQMQEFFGLKV
TGKPDAETLKVMKQPRCGVPDVAQFVLTEGNPRWEQTHLTYRIENYTPDLPRADVDHAIEKAFQLWSNVTPLTFT
KVSEGQADIMISFVRGDHRDNSPFDGPGGNLAHAFQPGPGIGGDAHFDEDERWTNNFREYNLHRVAAHELGHSLG
LSHSTDIGALMYPSYTFSGDVQLAQDDIDGIQAIYGRSQNPVQPIGPQTPKACDSKLTFDAITTIRGEVMFFKDR
FYMRTNPFYPEVELNFISVFWPQLPNGLEAAYEFADRDEVRFFKGNKYWAVQGQNVLHGYPKDIYSSFGFPRTVK
HIDAALSEENTGKTYFFVANKYWRYDEYKRSMDPGYPKMIAHDFPGIGHKVDAVFMKDGFFYFFHGTRQYKFDPK
TKRILTLQKANSWFNCRKN

Structural information

Motifs	Cysteine switch.(90-97)
Interpro:	IPR000585 IPR018487 IPR018486 IPR033739 IPR024079 IPR001818 IPR021190 IPR016293 IPR021158 IPR006026 IPR002477
Prosite:	PS00546 PS00024 PS51642 PS00142
Pfam:	PF00045 PF00413 PF01471
CDD:	cd00094 cd04278
PDB:	1AYK 1CGE 1CGF 1CGL 1HFC 1SU3 2AYK 2CLT 2J0T 2TCL 3AYK 3SHI 4AUO 4AYK 966C
PDBsum:	1AYK 1CGE 1CGF 1CGL 1HFC 1SU3 2AYK 2CLT 2J0T 2TCL 3AYK 3SHI 4AUO 4AYK 966C
DIP:	529
MINT:	198818
STRING:	ENSP00000322788;

Other Databases

GeneCards: MMP1; Malacards: MMP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	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: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:0005509	calcium ion binding	IEA	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: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:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0008270	zinc ion binding	IEA	molecular_function
GO:0016032	viral process	IEA	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0032461	positive regulation of pr otein oligomerization	IDA	biological_process
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0050900	leukocyte migration	TAS	biological_process
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IEA	molecular_function
GO:0004222	metalloendopeptidase acti vity	TAS	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	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: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:0005509	calcium ion binding	IEA	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: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:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	TAS	biological_process
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:0008270	zinc ion binding	TAS	molecular_function
GO:0016032	viral process	IEA	biological_process
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:0032461	positive regulation of pr otein oligomerization	IDA	biological_process
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050900	leukocyte migration	TAS	biological_process
GO:0004175	endopeptidase activity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	TAS	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	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: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: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:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	IDA	biological_process
GO:0006508	proteolysis	TAS	biological_process
GO:0008270	zinc ion binding	TAS	molecular_function
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0032461	positive regulation of pr otein oligomerization	IDA	biological_process
GO:0044267	cellular protein metaboli c process	TAS	biological_process
GO:0050900	leukocyte migration	TAS	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04657  IL-17 signaling pathway
hsa05323  Rheumatoid arthritis
hsa05219  Bladder cancer
hsa03320  PPAR signaling pathway

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 15337261
Amyotrophic lateral sclerosis (ALS)	PMID: 18608101
Arthritis	PMID: 11981324
Asthma	PMID: 19191136
Bronchiectasis	PMID: 19188843
Cancer	PMID: 19963114
Cardiovascular disease	PMID: 11887471
Celiac disease	PMID: 12229968
Choriocarcinoma	KEGG: H00028
Chronic kidney failure	PMID: 19578796
Chronic obstructive pulmonary disease (COPD)	PMID: 16676616
Chronic periodontitis	PMID: 19659894
Cleft lip	PMID: 17537400
Crohn's disease	PMID: 17589947
Diabetes	PMID: 11887471
Endometriosis	PMID: 19055724
Endometriotic lesions	PMID: 15746198
Epidermolysis bullosa	PMID: 19197535
Idiopathic pulmonary fibrosis	PMID: 18853190
Metabolic syndrome	PMID: 19056482
Multiple sclerosis	PMID: 19628284
Osteoarthritis	PMID: 18802702
Periodontitis	PMID: 15257748
Endometriosis	INFBASE27620811
Adenomyosis	INFBASE16202315
Polycystic ovary syndrome (PCOS)	PMID: 15866608
Preeclampsia	PMID: 11586041
Rheumatoid arthritis	PMID: 15142265
Sarcoidosis	PMID: 15127970
Scleroderma	PMID: 18506448
Spinal diseases	PMID: 18439317
Systemic sclerosis	PMID: 11528521
Ulcerative colitis	PMID: 12572877

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19055724	Endometrio sis			4 (3 endometrio tic tissues, 1 normal tissue)		MMP1 MMP2 MMP3 MMP10 MMP11 MMP14 IGF2 ACTN4 AXL and SHC1	Show abstract
21111772	Endometrio sis				Female infertility	PGE2 COX-2 MMP1 MMP2 MMP3 MMP7 MMP9 TIMP1 TIMP2 TIMP3 TIMP4	Show abstract
19661147	Endometrio sis					ICAM1 MMP9 TNF MMP1	Show abstract
15879464	Endometrio sis	MMP1 promoter SNP, MMP 2G/6A, MMP3 promoter SNP		250 (100 women with endometrio sis, 150 contro l subjects)		MMP1 MMP3	Show abstract
10849774	Endometrio sis					MMP-1 -2 -3 and -9 TIMP-1 and -2 TACE TNF-alpha	Show abstract
20423842	Endometrio sis			85 (35 patients with endometri osis, 22 eutopi c endometrium t issues from wom en with endomet riosis, 28 norm al controls)		MMP-1	Show abstract
18644593	Endometrio sis			60 (30 women wi th endometriosi s, 30 endometri um biopsy sampl es from 30 heal thy women)		ANGPT1 ANGPT2 MMP-1 MMP-2 MMP-9 VEGF	Show abstract
16210018	Endometrio sis			74 (37 matched samples from en dometriotic and corresponding endometrial bio psies obtained during the prol iferative and s ecretory phase, 37 endometrial biopsies obtai ned from health y women)		MMP-1 Eralpha Erbeta	Show abstract
16202315	Endometrio sis	MMP-1 2G allelotype		330 (100 endome triosis patient s, 80 adenomyos is patients, 15 0 unrelated hea lthy women)		MMP-1 MMP-3	Show abstract
15746198	Endometrio sis			74 (37 patients with peritonea l or ovarian en dometriosis, 37 women without endometriosis)		MMP-1 IL-1alpha	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