InnateDB Protein
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IDBP-5240.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TIMP3
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Protein Name
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TIMP metallopeptidase inhibitor 3
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Synonyms
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HSMRK222; K222; K222TA2; SFD;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000266085
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InnateDB Gene
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IDBG-5236 (TIMP3)
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Protein Structure
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Function |
Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15.
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Subcellular Localization |
Secreted, extracellular space, extracellular matrix.
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Disease Associations |
Sorsby fundus dystrophy (SFD) [MIM:136900]: Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years. {ECO:0000269PubMed:7550309, ECO:0000269PubMed:7894485, ECO:0000269PubMed:8634721, ECO:0000269PubMed:8728699, ECO:0000269PubMed:8981947}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
GO:0007601
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visual perception
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GO:0010951
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negative regulation of endopeptidase activity
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GO:0051045
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negative regulation of membrane protein ectodomain proteolysis
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GO:0071310
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cellular response to organic substance
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Cellular Component |
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PDB ID |
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InterPro |
IPR001134
Netrin domain
IPR001820
Proteinase inhibitor I35, tissue inhibitor of metalloproteinase
IPR008993
Tissue inhibitor of metalloproteinases-like, OB-fold
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PFAM |
PF00965
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PRINTS |
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PIRSF |
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SMART |
SM00206
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TIGRFAMs |
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Modification |
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SwissProt |
P35625
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PhosphoSite |
PhosphoSite-P35625
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
7078
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UniGene |
Hs.714168
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RefSeq |
NP_000353
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HUGO |
HGNC:11822
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OMIM |
188826
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CCDS |
CCDS13911
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HPRD |
01785
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IMGT |
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EMBL |
AK314871
AL023282
BC014277
BT006848
CH471095
CR456593
L15078
S78453
U02571
U14394
U33110
U33111
U33112
U33113
U33114
U38952
U38953
U38954
U38955
U67195
X76227
Z30183
Z98256
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GenPept |
AAA17672
AAA21815
AAB07547
AAB17602
AAB34532
AAB60373
AAC50393
AAH14277
AAP35494
BAG37386
CAA53813
CAA82918
CAG30479
CAI17996
CAI20115
EAW60038
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