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TIMP3

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

TIMP3

Available structures

PDB

Ortholog search:PDBe RCSB

List of PDB id codes
3CKI

Identifiers

Aliases

TIMP3, HSMRK222, K222, K222TA2, SFD, TIMP metallopeptidase inhibitor 3

External IDs

OMIM:188826;MGI:98754;HomoloGene:36322;GeneCards:TIMP3;OMA:TIMP3 - orthologs

Gene location (Human)

Chr.	Chromosome 22 (human)^[1]

Band	22q12.3	Start	32,801,705bp^[1]
Band	22q12.3	End	32,863,041bp^[1]

Gene location (Mouse)

Chr.	Chromosome 10 (mouse)^[2]

Band	10 C1\|10 42.83 cM	Start	86,136,236bp^[2]
Band	10 C1\|10 42.83 cM	End	86,185,370bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

synovial joint

decidua

retinal pigment epithelium

urethra

right lung

lower lobe of lung

vena cava

saphenous vein

upper lobe of lung

upper lobe of left lung

Top expressed in

retinal pigment epithelium

right kidney

ciliary body

right lung

human kidney

right lung lobe

carotid body

aortic valve

skin of external ear

iris

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	peptidase inhibitor activity enzyme inhibitor activity metal ion binding protease binding protein binding metalloendopeptidase inhibitor activity
Cellular component	extracellular matrix basement membrane extracellular exosome nucleus extracellular region platelet dense granule lumen extracellular space collagen-containing extracellular matrix
Biological process	cellular response to organic substance negative regulation of peptidase activity response to stimulus positive regulation of TRAIL-activated apoptotic signaling pathway negative regulation of ERK1 and ERK2 cascade negative regulation of membrane protein ectodomain proteolysis visual perception platelet degranulation response to organic substance negative regulation of metalloendopeptidase activity response to hormone negative regulation of endopeptidase activity response to cytokine
Sources:Amigo /QuickGO

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: 32.8 – 32.86 Mb

Chr 10: 86.14 – 86.19 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Metalloproteinase inhibitor 3 is aprotein that in humans is encoded by theTIMP3gene.^[5]^[6]

This gene belongs to thetissue inhibitor of metalloproteinases gene family. The proteins encoded by this gene family are inhibitors of thematrix metalloproteinases, a group of peptidases involved in degradation of theextracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and thisnetrin domain-containing protein is localized to the ECM. Mutations in thisgene have been associated with theautosomal dominant disorderSorsby's fundus dystrophy.^[7]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000100234 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000020044 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.S2CID 12563403.
^"Entrez Gene: TIMP3 TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory)".

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.S2CID 20685857.
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.Bibcode:1985Natur.318...66D.doi:10.1038/318066a0.PMID 3903517.S2CID 4325067.
Forsius HR, Eriksson AW, Suvanto EA, Alanko HI (1983). "Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance".Am. J. Ophthalmol.94 (5):634–49.doi:10.1016/0002-9394(82)90009-5.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) (2):549–54.doi:10.1042/bj3110549.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.S2CID 7779127.
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/endo.136.11.7588231.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.S2CID 19386047.
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.S2CID 22060034.
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.S2CID 33038960.
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.doi:10.1016/S0021-9258(17)32259-7.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.doi:10.1007/BF03401579.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.