Endometriosis Knowledgebase

Search Result

Gene id

4322

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MMP13 Gene UCSC Ensembl

Aliases

CLG3, MANDP1, MDST, MMP-13

Gene name

matrix metallopeptidase 13

Alternate names

collagenase 3, matrix metalloproteinase 13 (collagenase 3),

Gene location

11q22.2 (102955733: 102942991) 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 protease cleaves type II collagen more efficiently than types I and III. It may be involved in articular cartilage turnover and cartilage pathophysiology associated with osteoarthritis. Mutations in this gene are associated with metaphyseal anadysplasia. This gene is part of a cluster of MMP genes on chromosome 11. [provided by RefSeq, Jan 2016]

OMIM

600108

Protein Summary

Protein general information

P45452

Name: Collagenase 3 (EC 3.4.24. ) (Matrix metalloproteinase 13) (MMP 13)

Length: 471 Mass: 53,820

Tissue specificity: Detected in fetal cartilage and calvaria, in chondrocytes of hypertrophic cartilage in vertebrae and in the dorsal end of ribs undergoing ossification, as well as in osteoblasts and periosteal cells below the inner periosteal region of

Sequence

MHPGVLAAFLFLSWTHCRALPLPSGGDEDDLSEEDLQFAERYLRSYYHPTNLAGILKENAASSMTERLREMQSFF
GLEVTGKLDDNTLDVMKKPRCGVPDVGEYNVFPRTLKWSKMNLTYRIVNYTPDMTHSEVEKAFKKAFKVWSDVTP
LNFTRLHDGIADIMISFGIKEHGDFYPFDGPSGLLAHAFPPGPNYGGDAHFDDDETWTSSSKGYNLFLVAAHEFG
HSLGLDHSKDPGALMFPIYTYTGKSHFMLPDDDVQGIQSLYGPGDEDPNPKHPKTPDKCDPSLSLDAITSLRGET
MIFKDRFFWRLHPQQVDAELFLTKSFWPELPNRIDAAYEHPSHDLIFIFRGRKFWALNGYDILEGYPKKISELGL
PKEVKKISAAVHFEDTGKTLLFSGNQVWRYDDTNHIMDKDYPRLIEEDFPGIGDKVDAVYEKNGYIYFFNGPIQF
EYSIWSNRIVRVMPANSILWC

Structural information

Motifs	Cysteine switch.(94-101)
Interpro:	IPR028711 IPR000585 IPR018487 IPR018486 IPR033739 IPR024079 IPR001818 IPR021190 IPR016293 IPR021158 IPR006026 IPR002477
Prosite:	PS00546 PS00024 PS51642 PS00142
Pfam:	PF00045 PF00413 PF01471
CDD:	cd00094 cd04278
PDB:	1EUB 1FLS 1FM1 1PEX 1UC1 1XUC 1XUD 1XUR 1YOU 1ZTQ 2D1N 2E2D 2OW9 2OZR 2PJT 2YIG 3ELM 3I7G 3I7I 3KEC 3KEJ 3KEK 3KRY 3LJZ 3O2X 3TVC 3WV1 3WV2 3WV3 3ZXH 456C 4A7B 4FU4 4FVL 4G0D 4JP4 4JPA 4L19 5B5O 5B5P 5BOT 5BOY 5BPA 830C
PDBsum:	1EUB 1FLS 1FM1 1PEX 1UC1 1XUC 1XUD 1XUR 1YOU 1ZTQ 2D1N 2E2D 2OW9 2OZR 2PJT 2YIG 3ELM 3I7G 3I7I 3KEC 3KEJ 3KEK 3KRY 3LJZ 3O2X 3TVC 3WV1 3WV2 3WV3 3ZXH 456C 4A7B 4FU4 4FVL 4G0D 4JP4 4JPA 4L19 5B5O 5B5P 5BOT 5BOY 5BPA 830C
STRING:	ENSP00000260302;

Other Databases

GeneCards: MMP13; Malacards: MMP13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001554	luteolysis	IEA	biological_process
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001958	endochondral ossification	IEA	biological_process
GO:0001968	fibronectin binding	IEA	molecular_function
GO:0003417	growth plate cartilage de velopment	IEA	biological_process
GO:0004222	metalloendopeptidase acti vity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	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	IDA	molecular_function
GO:0005518	collagen binding	IDA	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:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005615	extracellular space	IEA	cellular_component
GO:0005764	lysosome	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007567	parturition	IEA	biological_process
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0009612	response to mechanical st imulus	IEA	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030282	bone mineralization	IEA	biological_process
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0035116	embryonic hindlimb morpho genesis	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043171	peptide catabolic process	IEA	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0044267	cellular protein metaboli c process	IEA	biological_process
GO:0044849	estrous cycle	IEA	biological_process
GO:0046581	intercellular canaliculus	IEA	cellular_component
GO:0048306	calcium-dependent protein binding	IEA	molecular_function
GO:0050750	low-density lipoprotein p article receptor binding	IEA	molecular_function
GO:0060349	bone morphogenesis	IDA	biological_process
GO:0071498	cellular response to flui d shear stress	IEA	biological_process
GO:1904244	positive regulation of pa ncreatic trypsinogen secr etion	IEA	biological_process
GO:0001503	ossification	IEA	biological_process
GO:0001554	luteolysis	IEA	biological_process
GO:0001649	osteoblast differentiatio n	IEA	biological_process
GO:0001666	response to hypoxia	IEA	biological_process
GO:0001958	endochondral ossification	IEA	biological_process
GO:0001968	fibronectin binding	IEA	molecular_function
GO:0003417	growth plate cartilage de velopment	IEA	biological_process
GO:0004222	metalloendopeptidase acti vity	IEA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IEA	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	TAS	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	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:0005509	calcium ion binding	IEA	molecular_function
GO:0005509	calcium ion binding	IDA	molecular_function
GO:0005518	collagen binding	IDA	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
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: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:0005764	lysosome	IEA	cellular_component
GO:0005794	Golgi apparatus	IEA	cellular_component
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	IEA	biological_process
GO:0006508	proteolysis	TAS	biological_process
GO:0007507	heart development	IEA	biological_process
GO:0007567	parturition	IEA	biological_process
GO:0008233	peptidase activity	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:0008270	zinc ion binding	IEA	molecular_function
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0008270	zinc ion binding	TAS	molecular_function
GO:0009612	response to mechanical st imulus	IEA	biological_process
GO:0016787	hydrolase activity	IEA	molecular_function
GO:0022617	extracellular matrix disa ssembly	IEA	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030282	bone mineralization	IEA	biological_process
GO:0030574	collagen catabolic proces s	IEA	biological_process
GO:0030574	collagen catabolic proces s	IEA	biological_process
GO:0030574	collagen catabolic proces s	IEA	biological_process
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	IEA	cellular_component
GO:0035116	embryonic hindlimb morpho genesis	IEA	biological_process
GO:0042493	response to drug	IEA	biological_process
GO:0043171	peptide catabolic process	IEA	biological_process
GO:0043627	response to estrogen	IEA	biological_process
GO:0044267	cellular protein metaboli c process	IEA	biological_process
GO:0044849	estrous cycle	IEA	biological_process
GO:0046581	intercellular canaliculus	IEA	cellular_component
GO:0046872	metal ion binding	IEA	molecular_function
GO:0048306	calcium-dependent protein binding	IEA	molecular_function
GO:0050750	low-density lipoprotein p article receptor binding	IEA	molecular_function
GO:0051216	cartilage development	IEA	biological_process
GO:0060349	bone morphogenesis	IDA	biological_process
GO:0071498	cellular response to flui d shear stress	IEA	biological_process
GO:1904244	positive regulation of pa ncreatic trypsinogen secr etion	IEA	biological_process
GO:0004222	metalloendopeptidase acti vity	IDA	molecular_function
GO:0004222	metalloendopeptidase acti vity	TAS	molecular_function
GO:0004222	metalloendopeptidase acti vity	IDA	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	IDA	molecular_function
GO:0005518	collagen binding	IDA	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:0005615	extracellular space	TAS	cellular_component
GO:0006508	proteolysis	TAS	biological_process
GO:0008270	zinc ion binding	IDA	molecular_function
GO:0008270	zinc ion binding	TAS	molecular_function
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	IMP	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	IDA	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0060349	bone morphogenesis	IDA	biological_process

KEGG pathways

hsa04657 IL-17 signaling pathway

Diseases

Associated diseases	References
Aortic aneurysm	PMID: 15944607
Cancer	PMID: 19562509
Chronic periodontitis	PMID: 19453573
Endometriosis	PMID: 18308831
Metaphyseal dysplasias	KEGG: H00479, OMIM: 600108
Endometriosis	INFBASE16109597
Rheumatoid arthritis	PMID: 16356191
Spondyloepimetaphyseal dysplasia	OMIM: 600108

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18308831	Endometrio sis	MMP1 -1607 1G/2G, MMP2 -1575 G/A (MMP2.1), -1306 C/T (MMP2.2), MMP3 -1612 5A/6A, MMP7 -153 C/T (MMP7.1), -181 A/G (MMP7.2), MMP12 -82 A/G and MMP13-77 A/G		468 (227 endome triosis, 241 co ntrols)		MMP12 MMP13	Show abstract
16109597	Endometrio sis			38 (20 women wi th endometriosi s, 18 controls)		MMP-13 MT1-MMP/MMP-14 TIMP-2	Show abstract