MMP12 (matrix metallopeptidase 12)

Gene

• Entrez ID: 4321
• Gene name: Matrix metallopeptidase 12
• Gene symbol: MMP12
• Synonyms: HME, ME, MME, MMP-12
• Chromosome: 11
• Chromosome location: 11q22.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT021521	hsa-miR-145-5p	Reporter assay;Microarray	21351259
MIRT021521	hsa-miR-145-5p	ChIP-seq, qRT-PCR	32221048
MIRT755536	hsa-miR-149-5p	qRT-PCR	36250208
MIRT2273236	hsa-miR-4753-3p	CLIP-seq
MIRT2273237	hsa-miR-493	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
JUN	Unknown	11444842
RELA	Activation	20051654

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0001046	Function	Core promoter sequence-specific DNA binding	IMP	24784232
GO:0004175	Function	Endopeptidase activity	TAS	8226919
GO:0004222	Function	Metalloendopeptidase activity	IBA	21873635
GO:0004222	Function	Metalloendopeptidase activity	IDA	24784232
GO:0004222	Function	Metalloendopeptidase activity	IMP	19932771
GO:0004222	Function	Metalloendopeptidase activity	TAS	8226919
GO:0005509	Function	Calcium ion binding	IMP	11575928
GO:0005518	Function	Collagen binding	IPI	19932771
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IMP	24784232
GO:0005634	Component	Nucleus	IMP	24784232
GO:0005737	Component	Cytoplasm	IDA	24784232
GO:0006508	Process	Proteolysis	IDA	24784232
GO:0006508	Process	Proteolysis	IMP	19932771
GO:0006606	Process	Protein import into nucleus	IMP	24784232
GO:0008270	Function	Zinc ion binding	IMP	11575928
GO:0022617	Process	Extracellular matrix disassembly	TAS
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030574	Process	Collagen catabolic process	IBA	21873635
GO:0030574	Process	Collagen catabolic process	TAS
GO:0031012	Component	Extracellular matrix	IEA
GO:0032727	Process	Positive regulation of interferon-alpha production	IEA
GO:0035313	Process	Wound healing, spreading of epidermal cells	IDA	15802269
GO:0043565	Function	Sequence-specific DNA binding	IMP	24784232
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	24784232
GO:0048286	Process	Lung alveolus development	IEA
GO:0050691	Process	Regulation of defense response to virus by host	IEA
GO:0060054	Process	Positive regulation of epithelial cell proliferation involved in wound healing	IDA	15802269
GO:0060309	Process	Elastin catabolic process	IDA	29101312
GO:0060339	Process	Negative regulation of type I interferon-mediated signaling pathway	IEA
GO:0060340	Process	Positive regulation of type I interferon-mediated signaling pathway	IEA
GO:0060435	Process	Bronchiole development	IEA
GO:0098586	Process	Cellular response to virus	IEA
GO:1904645	Process	Response to amyloid-beta	TAS	28912710
GO:1904905	Process	Negative regulation of endothelial cell-matrix adhesion via fibronectin	IDA	29101312

Other IDs

• MIM: 601046
• HGNC: 7158
• e!Ensembl: ENSG00000262406

Protein

• UniProt ID: P39900
• Protein name: Macrophage metalloelastase (MME) (EC 3.4.24.65) (Macrophage elastase) (ME) (hME) (Matrix metalloproteinase-12) (MMP-12)
• Protein function: May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with
• PDB: 1JIZ, 1JK3, 1OS2, 1OS9, 1RMZ, 1ROS, 1UTT, 1UTZ, 1Y93, 1YCM, 1Z3J, 2HU6, 2JXY, 2K2G, 2K9C, 2KRJ, 2MLR, 2MLS, 2N8R, 2OXU, 2OXW, 2OXZ, 2POJ, 2W0D, 2WO8, 2WO9, 2WOA, 2Z2D, 3BA0, 3EHX, 3EHY, 3F15, 3F16, 3F17, 3F18, 3F19, 3F1A, 3LIK, 3LIL, 3LIR, 3LJG, 3LK8, 3LKA, 3N2U, 3N2V, 3NX7, 3RTS, 3RTT, 3TS4, 3TSK, 3UVC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01471	PG_binding_1	26 → 87	Putative peptidoglycan binding domain	Domain
  PF00413	Peptidase_M10	108 → 263	Matrixin	Domain
  PF00045	Hemopexin	288 → 330	Hemopexin	Repeat
  PF00045	Hemopexin	332 → 375	Hemopexin	Repeat
  PF00045	Hemopexin	380 → 427	Hemopexin	Repeat
  PF00045	Hemopexin	429 → 470	Hemopexin	Repeat

• Sequence:

  MKFLLILLLQATASGALPLNSSTSLEKNNVLFGERYLEKFYGLEINKLPVTKMKYSGNLM
  KEKIQEMQHFLGLKVTGQLDTSTLEMMHAPRCGVPDVHHFREMPGGPVWRKHYITYRINN
  YTPDMNREDVDYAIRKAFQVWSNVTPLKFSKINTGMADILVVFARGAHGDFHAFDGKGGI
  LAHAFGPGSGIGGDAHFDEDEFWTTHSGGTNLFLTAVHEIGHSLGLGHSSDPKAVMFPTY
  KYVDINTFRLSADDIRGIQSLYGDPKENQRLPNPDNSEPALCDPNLSFDAVTTVGNKIFF
  FKDRFFWLKVSERPKTSVNLISSLWPTLPSGIEAAYEIEARNQVFLFKDDKYWLISNLRP
  EPNYPKSIHSFGFPNFVKKIDAAVFNPRFYRTYFFVDNQYWRYDERRQMMDPGYPKLITK
  NFQGIGPKIDAVFYSKNKYYYFFQGSNQFEYDFLLQRITKTLKSNSWFGC

• Sequence length: 470

Pathways

Reactome:

Collagen degradation
Degradation of the extracellular matrix

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	15059925
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	19192274

Unknown
Disease name	Disease term	dbSNP ID	References
Celiac disease	Celiac Disease	rs2305764, rs35218876	30097691
Emphysema	Focal Emphysema		12634787, 25106431
Miscarriage	Miscarriage		18539642
Panacinar emphysema	Panacinar Emphysema		25106431, 12634787
Pulmonary emphysema	Pulmonary Emphysema, Centriacinar Emphysema		25106431, 12634787, 12634787, 25106431
Stroke	Cerebrovascular accident, Acute Cerebrovascular Accidents		29531354