• Gene id: 4322

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 (102955731: 102942994)     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 t
• OMIM: 603421

Protein Summary

• Protein general information: P45452  
  • Name: Collagenase 3 (EC 3.4.24. ) (Matrix metalloproteinase 13) (MMP 13)
  • Length: 471  
  • Mass: 53820
  • 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:
  • Interpro: IPR028711  IPR000585  IPR036375  IPR018487  IPR018486   IPR033739  IPR024079  IPR001818  IPR021190  IPR021158  IPR006026  IPR002477  IPR036365  IPR036366  
  • Prosite: PS00546 PS00024 PS51642 PS00142
  • 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 5UWK 5UWL 5UWM 5UWN 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 5UWK 5UWL 5UWM 5UWN 830C
  • STRING: ENSP00000260302
• Other Databases: GeneCards:  MMP13  Malacards:  MMP13

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1904645	response to amyloid-beta	TAS	biological process
GO:0030574	collagen catabolic process	IBA	biological process
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005509	calcium ion binding	IDA	molecular function
GO:0060349	bone morphogenesis	IDA	biological process
GO:0030574	collagen catabolic process	IDA	biological process
GO:0030574	collagen catabolic process	IDA	biological process
GO:0005518	collagen binding	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0022617	extracellular matrix disassembly	IMP	biological process
GO:0022617	extracellular matrix disassembly	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0031012	extracellular matrix	IEA	cellular component
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0030574	collagen catabolic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0030574	collagen catabolic process	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0008270	zinc ion binding	TAS	molecular function
GO:0005615	extracellular space	TAS	cellular component
GO:0006508	proteolysis	TAS	biological process
GO:0004222	metalloendopeptidase activity	TAS	molecular function
GO:0030574	collagen catabolic process	TAS	biological process
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:0022617	extracellular matrix disassembly	TAS	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0022617	extracellular matrix disassembly	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0003417	growth plate cartilage development	IEA	biological process
GO:0001958	endochondral ossification	IEA	biological process
GO:0044267	cellular protein metabolic process	IEA	biological process
GO:0030574	collagen catabolic process	IEA	biological process
GO:0030282	bone mineralization	IEA	biological process
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0004175	endopeptidase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04926	Relaxin signaling pathway
hsa04928	Parathyroid hormone synthesis, secretion and action
hsa04657	IL-17 signaling pathway

Diseases

Associated diseases	References
Metaphyseal dysplasias	KEGG:H00479
Metaphyseal dysplasias	KEGG:H00479
Prostate cancer	PMID:15517230
urinary bladder cancer	PMID:11054671
vulva cancer	PMID:10027405
Anodontia	PMID:24351915
Arteriosclerosis	PMID:12392760
invasive ductal carcinoma	PMID:11585740
ovarian carcinoma	PMID:12974393
ovarian carcinoma	PMID:19258954
cervical cancer	PMID:17243165
Abdominal aortic aneurysm	PMID:15156361
Osteoarthritis	PMID:16128596
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881