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Gene Symbol |
TIMP1 |
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Aliases |
CLGI, EPA, EPO, HCI, TIMP, TIMP-1 |
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Entrez Gene ID |
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Gene Name |
TIMP metallopeptidase inhibitor 1 |
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Chromosomal Location |
Xp11.3 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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Protein Information |
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Protein Name |
Metalloproteinase inhibitor 1, collagenase inhibitor, epididymis secretory sperm binding protein, erythroid potentiating activity, fibroblast collagenase inhibitor, tissue inhibitor of metalloproteinases 1 |
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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. |
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UniProt |
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PDB |
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Pfam |
Pfam Accession |
Pfam ID |
PF00965 |
TIMP |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000303222 |
Q9Y6C9 |
Q9Y6C9 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Cardiovascular Diseases |
Aortic Valve Insufficiency |
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Heart Diseases |
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Vascular Diseases |
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Hypertensive disease |
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Varicosity |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Wilson Disease |
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Digestive System Diseases |
Cholangitis |
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Liver Cirrhosis |
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Oral submucosal fibrosis |
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Cholestasis |
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Endocrine System Diseases |
Diabetes Mellitus |
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PCOS |
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Immune System Diseases |
Autoimmune Diseases |
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Glomerulonephritis |
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Nutritional and Metabolic Diseases |
Tumoral calcinosis |
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Psychiatric/Brain disorders |
Obstructive Sleep Apnea |
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Reproductive disorders |
Female Urogenital Diseases |
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Preeclampsia |
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Respiratory Tract Diseases |
Pulmonary Fibrosis |
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Respiratory Distress Syndrome |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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MMP2, MMP9, MMP1 |
PCOS |
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2003 Rotterdam criteria |
Related
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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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