Gene Gene information from NCBI Gene database.
Entrez ID 7076
Gene name TIMP metallopeptidase inhibitor 1
Gene symbol TIMP1
Synonyms (NCBI Gene)
CLGIEPAEPOHCITIMPTIMP-1
Chromosome X
Chromosome location Xp11.3
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 ro
miRNA miRNA information provided by mirtarbase database.
9
miRTarBase ID miRNA Experiments Reference
MIRT006638 hsa-miR-519a-3p Luciferase reporter assayqRT-PCRWestern blot 22262409
MIRT028755 hsa-miR-26b-5p Microarray 19088304
MIRT052992 hsa-miR-181a-5p Luciferase reporter assayqRT-PCRWestern blot 22492871
MIRT437506 hsa-miR-1293 Luciferase reporter assayWestern blot 23943285
MIRT731726 hsa-miR-377-3p Luciferase reporter assayqRT-PCRWestern blot 25998046
Transcription factors Transcription factors information provided by TRRUST V2 database.
19
Transcription factor Regulation Reference
ASH1L Unknown 22488473
FOSB Repression 11337499
FOSB Unknown 10051488
FOSL2 Repression 11337499
JUND Unknown 10051488;11337499
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0002020 Function Protease binding IEA
GO:0002248 Process Connective tissue replacement involved in inflammatory response wound healing IEA
GO:0004857 Function Enzyme inhibitor activity IEA
GO:0005125 Function Cytokine activity IDA 3839290
GO:0005515 Function Protein binding IPI 2251898, 16917503, 20979576, 28030805
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
305370 11820 ENSG00000102265
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01033
Protein name Metalloproteinase inhibitor 1 (Erythroid-potentiating activity) (EPA) (Fibroblast collagenase inhibitor) (Collagenase inhibitor) (Tissue inhibitor of metalloproteinases 1) (TIMP-1)
Protein 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,
PDB 1D2B , 1OO9 , 1UEA , 2J0T , 3MA2 , 3V96 , 6MAV , 6N9D , 7S7L , 7S7M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00965 TIMP 22 199 Tissue inhibitor of metalloproteinase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in rheumatoid synovial fluid (at protein level). {ECO:0000269|PubMed:1730286}.
Sequence
Sequence length 207
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC VALVE INSUFFICIENCY CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 17706812
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 8417953
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 9665201
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 10989641, 15386409, 17695477, 19596921, 20584750, 22110238, 23527119, 25107436, 8269281, 9816309
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11487270
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22761399, 25578494, 26366732, 29507665
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 15386409, 7669564, 8269281
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 15386409, 24516561
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 30241369
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 15386409, 17075343
★☆☆☆☆
Found in Text Mining only