TIMP1 TIMP metallopeptidase inhibitor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TIMP1provided by HGNC
Official Full Name: TIMP metallopeptidase inhibitor 1provided by HGNC
Primary source: HGNC:HGNC:11820
See related: Ensembl:ENSG00000102265 MIM:305370; AllianceGenome:HGNC:11820
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EPA; EPO; HCI; CLGI; TIMP; TIMP-1
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]
Expression: Broad expression in appendix (RPKM 344.6), gall bladder (RPKM 211.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp11.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (47582436..47586789)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (46992326..46996679)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (47441835..47446188)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Contributions of Tissue Inhibitor of Metalloproteinase-1 Genotypes to the Risk of Metastasis in Gastric Cancer.
Title: Contributions of Tissue Inhibitor of Metalloproteinase-1 Genotypes to the Risk of Metastasis in Gastric Cancer.
TIMP1 promotes thyroid cancer cell progression through macrophage phenotypic polarization via the PI3K/AKT signaling pathway.
Title: TIMP1 promotes thyroid cancer cell progression through macrophage phenotypic polarization via the PI3K/AKT signaling pathway.
TIMP-1 is an activator of MHC-I expression in myeloid dendritic cells with implications for tumor immunogenicity.
Title: TIMP-1 is an activator of MHC-I expression in myeloid dendritic cells with implications for tumor immunogenicity.
HLA-B and TIMP1 as hub genes of the ventricular remodeling caused by hypertension.
Title: HLA-B and TIMP1 as hub genes of the ventricular remodeling caused by hypertension.
GnT-V-mediated aberrant N-glycosylation of TIMP-1 promotes diabetic retinopathy progression.
Title: GnT-V-mediated aberrant N-glycosylation of TIMP-1 promotes diabetic retinopathy progression.
The role of sinusoidal endothelial cells and TIMP1 in the regulation of fibrosis in a novel human liver 3D NASH model.
Title: The role of sinusoidal endothelial cells and TIMP1 in the regulation of fibrosis in a novel human liver 3D NASH model.
TIMP1/CHI3L1 facilitates glioma progression and immunosuppression via NF-kappaB activation.
Title: TIMP1/CHI3L1 facilitates glioma progression and immunosuppression via NF-κB activation.
Integration of single-cell transcriptomics and epigenetic analysis reveals enhancer-controlled TIMP1 as a regulator of ferroptosis in colorectal cancer.
Title: Integration of single-cell transcriptomics and epigenetic analysis reveals enhancer-controlled TIMP1 as a regulator of ferroptosis in colorectal cancer.
Changes and clinical significance of serum MMP-9, TIMP-1, COX-2, and immune levels in patients with asthma.
Title: Changes and clinical significance of serum MMP-9, TIMP-1, COX-2, and immune levels in patients with asthma.
The TGFbeta system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations.
Title: The TGFβ system and TIMP1 and 3 genotypes in Turner syndrome-Relation with aortic congenital malformations.

Submit: New GeneRIF Correction See all GeneRIFs (691)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG, ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat induced monocyte invasion is inhibited by anti-beta integrin Ab or tissue inhibitor of metalloproteinase (TIMP), indicating an interaction with beta integrins and TIMP	PubMed
	tat	HIV-1 Tat downregulates both basal and bFGF-induced secretion of TIMP-1 and TIMP-2, an effect involved in the Tat and bFGF induced increase in MMP-2 secretion	PubMed
Vpr	vpr	A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies upregulation of TIMP metallopeptidase inhibitor 1 (TIMP1) expression by HIV-1 Vpr in Vpr transduced macrophages	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-AA001911 (e-PCR)
- UniSTS:74040

GDB:178392 (e-PCR)
- UniSTS:155002

GDB:192509 (e-PCR)
- UniSTS:98973

GDB:182149 (e-PCR)
- UniSTS:155357

GDB:182150 (e-PCR)
- UniSTS:155358

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables growth factor activity	IEA Inferred from Electronic Annotation more info
enables metalloendopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables metalloendopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables peptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cartilage development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to UV-A	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to peptide	IEA Inferred from Electronic Annotation more info
involved_in connective tissue replacement involved in inflammatory response wound healing	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of catalytic activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of endopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of membrane protein ectodomain proteolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of metallopeptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of trophoblast cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of integrin-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to cytokine	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to hormone	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in basement membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: metalloproteinase inhibitor 1

Names: collagenase inhibitor; epididymis secretory sperm binding protein; erythroid potentiating activity; fibroblast collagenase inhibitor; tissue inhibitor of metalloproteinases 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.