TIMP1

Gene Information
 
Gene Symbol
TIMP1
 
Aliases
CLGI, EPA, EPO, HCI, TIMP, TIMP-1
 
Entrez Gene ID
 
Gene Name
TIMP metallopeptidase inhibitor 1
 
Chromosomal Location
Xp11.3
 
HGNC ID
 
Summary
This gene belongs to the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases (MMPs), a group of peptidases involved in degradation of the extracellular matrix. In addition to its inhibitory role against most of the known MMPs, the encoded protein is able to promote cell proliferation in a wide range of cell types, and may also have an anti-apoptotic function. Transcription of this gene is highly inducible in response to many cytokines and hormones. In addition, the expression from some but not all inactive X chromosomes suggests that this gene inactivation is polymorphic in human females. This gene is located within intron 6 of the synapsin I gene and is transcribed in the opposite direction. [provided by RefSeq, Jul 2008]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0008284 Biological process Positive regulation of cell proliferation IDA 3839290
GO:0009725 Biological process Response to hormone IBA 21873635
GO:0010033 Biological process Response to organic substance IBA 21873635
GO:0010951 Biological process Negative regulation of endopeptidase activity IBA 21873635
GO:0010951 Biological process Negative regulation of endopeptidase activity IDA 3903517
Protein Information
 
Protein Name
Metalloproteinase inhibitor 1, collagenase inhibitor, epididymis secretory sperm binding protein, erythroid potentiating activity, fibroblast collagenase inhibitor, tissue inhibitor of metalloproteinases 1
 
Function
Metalloproteinase inhibitor that functions by forming one to one complexes with target metalloproteinases, such as collagenases, and irreversibly inactivates them by binding to their catalytic zinc cofactor. Acts on MMP1, MMP2, MMP3, MMP7, MMP8, MMP9, MMP10, MMP11, MMP12, MMP13 and MMP16. Does not act on MMP14. Also functions as a growth factor that regulates cell differentiation, migration and cell death and activates cellular signaling cascades via CD63 and ITGB1. Plays a role in integrin signaling. Mediates erythropoiesis in vitro; but, unlike IL3, it is species-specific, stimulating the growth and differentiation of only human and murine erythroid progenitors.
 
Refseq Proteins
 
UniProt
 
PDB
 
Pfam
Pfam Accession Pfam ID
PF00965 TIMP
Pathways
 
KEGG
 
Reactome
 

HIF-1 signaling pathway

 

Platelet degranulation
Activation of Matrix Metalloproteinases
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
Post-translational protein phosphorylation

Interactions
 
STRING MINT IntAct
ENSP00000303222 Q9Y6C9 Q9Y6C9
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Cardiovascular Diseases
Aortic Valve Insufficiency
Heart Diseases
Vascular Diseases
Hypertensive disease
Varicosity
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
MMP2, MMP9, MMP1 
PCOS 
 
2003 Rotterdam criteria 
Related 
45 women with PCOS and healthy periodontium, 35 with PCOS and gingivitis, 25 systemically and periodontally healthy women, and 20 systemically healthy women with gingivitis were recruited from the outpatient clinic of the Department of Endocrinology, Scho 
Increased levels of MMP-8 and MMP-8/TIMP-1 ratio in saliva and serum seem to be more pronounced in women with PCOS, and potentiated by gingival inflammation. 

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