TIMP3
TIMP metallopeptidase inhibitor 3 | |||||||||||||
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Identifiers | |||||||||||||
Symbols | TIMP3 ; HSMRK222; K222; K222TA2; SFD | ||||||||||||
External IDs | OMIM: 188826 MGI: 98754 HomoloGene: 36322 GeneCards: TIMP3 Gene | ||||||||||||
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RNA expression pattern | |||||||||||||
More reference expression data | |||||||||||||
Orthologs | |||||||||||||
Species | Human | Mouse | |||||||||||
Entrez | 7078 | 21859 | |||||||||||
Ensembl | ENSG00000100234 | ENSMUSG00000020044 | |||||||||||
UniProt | P35625 | P39876 | |||||||||||
RefSeq (mRNA) | NM_000362 | NM_011595 | |||||||||||
RefSeq (protein) | NP_000353 | NP_035725 | |||||||||||
Location (UCSC) | Chr 22: 33.2 – 33.26 Mb | Chr 10: 86.3 – 86.35 Mb | |||||||||||
PubMed search | |||||||||||||
Metalloproteinase inhibitor 3 is an protein that in humans is encoded by the TIMP3 gene.[1][2]
This gene belongs to the tissue inhibitor of metalloproteinases gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy.[3]
See also
References
- ↑ Apte SS, Mattei MG, Olsen BR (Jun 1994). "Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22". Genomics 19 (1): 86–90. doi:10.1006/geno.1994.1016. PMID 8188246.
- ↑ Qi JH, Ebrahem Q, Moore N, Murphy G, Claesson-Welsh L, Bond M, Baker A, Anand-Apte B (Apr 2003). "A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2". Nat Med 9 (4): 407–15. doi:10.1038/nm846. PMID 12652295.
- ↑ "Entrez Gene: TIMP3 TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)".
Further reading
- Li Z, Clarke MP, Barker MD, McKie N (2007). "TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights.". Expert reviews in molecular medicine 7 (24): 1–15. doi:10.1017/S1462399405010045. PMID 16259644.
- Docherty AJ, Lyons A, Smith BJ et al. (1985). "Sequence of human tissue inhibitor of metalloproteinases and its identity to erythroid-potentiating activity.". Nature 318 (6041): 66–9. doi:10.1038/318066a0. PMID 3903517.
- Forsius HR, Eriksson AW, Suvanto EA, Alanko HI (1983). "Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance.". Am. J. Ophthalmol. 94 (5): 634–49. PMID 7148944.
- Wick M, Härönen R, Mumberg D et al. (1995). "Structure of the human TIMP-3 gene and its cell cycle-regulated promoter.". Biochem. J. 311. ( Pt 2): 549–54. PMC 1136034. PMID 7487894.
- Jacobson SG, Cideciyan AV, Regunath G et al. (1995). "Night blindness in Sorsby's fundus dystrophy reversed by vitamin A.". Nat. Genet. 11 (1): 27–32. doi:10.1038/ng0995-27. PMID 7550309.
- Higuchi T, Kanzaki H, Nakayama H et al. (1995). "Induction of tissue inhibitor of metalloproteinase 3 gene expression during in vitro decidualization of human endometrial stromal cells.". Endocrinology 136 (11): 4973–81. doi:10.1210/en.136.11.4973. PMID 7588231.
- Wilde CG, Hawkins PR, Coleman RT et al. (1995). "Cloning and characterization of human tissue inhibitor of metalloproteinases-3.". DNA Cell Biol. 13 (7): 711–8. doi:10.1089/dna.1994.13.711. PMID 7772252.
- Apte SS, Olsen BR, Murphy G (1995). "The gene structure of tissue inhibitor of metalloproteinases (TIMP)-3 and its inhibitory activities define the distinct TIMP gene family.". J. Biol. Chem. 270 (24): 14313–8. doi:10.1074/jbc.270.24.14313. PMID 7782289.
- Kishnani NS, Staskus PW, Yang TT et al. (1995). "Identification and characterization of human tissue inhibitor of metalloproteinase-3 and detection of three additional metalloproteinase inhibitor activities in extracellular matrix.". Matrix Biol. 14 (6): 479–88. doi:10.1016/0945-053X(95)90005-5. PMID 7795886.
- Weber BH, Vogt G, Pruett RC et al. (1995). "Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.". Nat. Genet. 8 (4): 352–6. doi:10.1038/ng1294-352. PMID 7894485.
- Weber BH, Vogt G, Wolz W et al. (1994). "Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.". Nat. Genet. 7 (2): 158–61. doi:10.1038/ng0694-158. PMID 7920634.
- Jones SE, Jomary C, Neal MJ (1994). "Expression of TIMP3 mRNA is elevated in retinas affected by simplex retinitis pigmentosa.". FEBS Lett. 352 (2): 171–4. doi:10.1016/0014-5793(94)00951-1. PMID 7925969.
- Wick M, Bürger C, Brüsselbach S et al. (1994). "A novel member of human tissue inhibitor of metalloproteinases (TIMP) gene family is regulated during G1 progression, mitogenic stimulation, differentiation, and senescence.". J. Biol. Chem. 269 (29): 18953–60. PMID 8034652.
- Silbiger SM, Jacobsen VL, Cupples RL, Koski RA (1994). "Cloning of cDNAs encoding human TIMP-3, a novel member of the tissue inhibitor of metalloproteinase family.". Gene 141 (2): 293–7. doi:10.1016/0378-1119(94)90588-6. PMID 8163205.
- Uría JA, Ferrando AA, Velasco G et al. (1994). "Structure and expression in breast tumors of human TIMP-3, a new member of the metalloproteinase inhibitor family.". Cancer Res. 54 (8): 2091–4. PMID 8174111.
- Byrne JA, Tomasetto C, Rouyer N et al. (1996). "The tissue inhibitor of metalloproteinases-3 gene in breast carcinoma: identification of multiple polyadenylation sites and a stromal pattern of expression.". Mol. Med. 1 (4): 418–27. PMC 2229996. PMID 8521299.
- Andersson B, Wentland MA, Ricafrente JY et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
- Felbor U, Stöhr H, Amann T et al. (1996). "A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.". Hum. Mol. Genet. 4 (12): 2415–6. doi:10.1093/hmg/4.12.2415. PMID 8634721.
- Carrero-Valenzuela RD, Klein ML, Weleber RG et al. (1996). "Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.". Arch. Ophthalmol. 114 (6): 737–8. doi:10.1001/archopht.1996.01100130729016. PMID 8639088.