Endometriosis Knowledgebase

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Gene id

7076

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

TIMP1 Gene UCSC Ensembl

Aliases

CLGI, EPA, EPO, HCI, TIMP, TIMP-1

Gene name

TIMP metallopeptidase inhibitor 1

Alternate names

metalloproteinase inhibitor 1, collagenase inhibitor, erythroid potentiating activity, fibroblast collagenase inhibitor, tissue inhibitor of metalloproteinases 1,

Gene location

Xp11.3 (47582290: 47586790) Exons: 6 NC_000023.11

Gene summary(Entrez)

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]

OMIM

305370

Protein Summary

Protein general information

P01033

Name: Metalloproteinase inhibitor 1 (Erythroid potentiating activity) (EPA) (Fibroblast collagenase inhibitor) (Collagenase inhibitor) (Tissue inhibitor of metalloproteinases 1) (TIMP 1)

Length: 207 Mass: 23,171

Tissue specificity: Detected in rheumatoid synovial fluid (at protein level). {ECO

Sequence

MAPFEPLASGILLLLWLIAPSRACTCVPPHPQTAFCNSDLVIRAKFVGTPEVNQTTLYQRYEIKMTKMYKGFQAL
GDAADIRFVYTPAMESVCGYFHRSHNRSEEFLIAGKLQDGLLHITTCSFVAPWNSLSLAQRRGFTKTYTVGCEEC
TVFPCLSIPCKLQSGTHCLWTDQLLQGSEKGFQSRHLACLPREPGLCTWQSLRSQIA

Structural information

Protein Domains	NTR. (24-147)
Interpro:	IPR001134 IPR001820 IPR008993 IPR015611 IPR027465 IPR030490
Prosite:	PS50189 PS00288
Pfam:	PF00965
PDB:	1D2B 1LQN 1OO9 1UEA 2J0T 3MA2 3V96
PDBsum:	1D2B 1LQN 1OO9 1UEA 2J0T 3MA2 3V96
DIP:	1107
MINT:	2981826
STRING:	ENSP00000218388;

Other Databases

GeneCards: TIMP1; Malacards: TIMP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001775	cell activation	IEA	biological_process
GO:0002020	protease binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IBA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007568	aging	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IDA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009725	response to hormone	IBA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IDA	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0034097	response to cytokine	IBA	biological_process
GO:0042060	wound healing	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043086	negative regulation of ca talytic activity	IDA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051045	negative regulation of me mbrane protein ectodomain proteolysis	IDA	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1901164	negative regulation of tr ophoblast cell migration	IMP	biological_process
GO:2001044	regulation of integrin-me diated signaling pathway	IMP	biological_process
GO:0001775	cell activation	IEA	biological_process
GO:0002020	protease binding	IEA	molecular_function
GO:0002020	protease binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0004857	enzyme inhibitor activity	IEA	molecular_function
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	IEA	cellular_component
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IBA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0007568	aging	IEA	biological_process
GO:0008083	growth factor activity	IEA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IEA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IEA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IDA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009725	response to hormone	IBA	biological_process
GO:0010033	response to organic subst ance	IEA	biological_process
GO:0010466	negative regulation of pe ptidase activity	IEA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IDA	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0030414	peptidase inhibitor activ ity	IEA	molecular_function
GO:0031012	extracellular matrix	IEA	cellular_component
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0034097	response to cytokine	IEA	biological_process
GO:0034097	response to cytokine	IBA	biological_process
GO:0042060	wound healing	IEA	biological_process
GO:0043066	negative regulation of ap optotic process	IEA	biological_process
GO:0043086	negative regulation of ca talytic activity	IDA	biological_process
GO:0043434	response to peptide hormo ne	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0051045	negative regulation of me mbrane protein ectodomain proteolysis	IDA	biological_process
GO:0051216	cartilage development	IEA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1901164	negative regulation of tr ophoblast cell migration	IMP	biological_process
GO:2001044	regulation of integrin-me diated signaling pathway	IMP	biological_process
GO:0002020	protease binding	IBA	molecular_function
GO:0002576	platelet degranulation	TAS	biological_process
GO:0005125	cytokine activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	NAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IBA	cellular_component
GO:0005615	extracellular space	IDA	cellular_component
GO:0008191	metalloendopeptidase inhi bitor activity	IDA	molecular_function
GO:0008191	metalloendopeptidase inhi bitor activity	IDA	molecular_function
GO:0008284	positive regulation of ce ll proliferation	IDA	biological_process
GO:0009725	response to hormone	IBA	biological_process
GO:0010951	negative regulation of en dopeptidase activity	IDA	biological_process
GO:0022617	extracellular matrix disa ssembly	TAS	biological_process
GO:0031093	platelet alpha granule lu men	TAS	cellular_component
GO:0034097	response to cytokine	IBA	biological_process
GO:0043086	negative regulation of ca talytic activity	IDA	biological_process
GO:0051045	negative regulation of me mbrane protein ectodomain proteolysis	IDA	biological_process
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:1901164	negative regulation of tr ophoblast cell migration	IMP	biological_process
GO:2001044	regulation of integrin-me diated signaling pathway	IMP	biological_process

KEGG pathways

hsa04066 HIF-1 signaling pathway

Diseases

Associated diseases	References
Abnormal sperm	PMID: 12185105
Alzheimer's disease	PMID: 12218659
Aortic aneurysm	PMID: 15944607
Arthritis	PMID: 11981324
Asthma	PMID: 16061701
Azoospermia	PMID: 12406369
Crohn's disease	PMID: 17589947
Ectopic endometriosis	PMID: 15733405
Endometriosis	PMID: 11331642
Impaired reproduction	PMID: 18292822
Implantation failure	PMID: 17156190
Peritoneal endometriosis	INFBASE28030938
Ectopic endometriosis	INFBASE15733405
Female infertility	INFBASE11821264
Endometriosis	INFBASE11331642
Myopia	PMID: 16935611
Polycystic ovary syndrome (PCOS)	PMID: 23900753
Recurrent miscarriage	PMID: 17156190
Systemic sclerosis	PMID: 16960901
Unexplained infertility	PMID: 12895377

PubMed references

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
11331642	Endometrio sis	60 (42 patients with endometri osis, 18 withou t endometriosis )		Epo	Show abstract
11949944	Endometrio sis			TIMP	Show abstract
21111772	Endometrio sis			PGE2 COX-2 MMP1 MMP2 MMP3 MMP7 MMP9 TIMP1 TIMP2 TIMP3 TIMP4	Show abstract
15733405	Endometrio sis	77 (45 patients with endometri osis (study gro up), in 32 pati ents with uteri ne fibroid (con trol group))		MMP-9 TIMP-1	Show abstract
11821264	Endometrio sis	43 (22 infertil e women with mi ld or moderate endometriosis, 21 control grou p of infertile patients)	Female infertility	MMP-9 TIMP-1	Show abstract
18584412	Endometrio sis	37 (15 mild end ometriosis, 22 severe endometr iosis)		MMP-2 MMP-9 TIMP-1 and TIMP-2	Show abstract
16635325	Endometrio sis	109 (38 specime ns of ovarian e ndometrioma (ov arian chocolate cysts, OCC), 1 6 red peritonea l endometriotic lesions (RPL), and 35 matched eutopic endome trium (Eu), 20 specimens of en dometrium from reproductive wo men undergoing laparoscopic su rgery without e		MMP-9 TIMP-1	Show abstract
24188612	Endometrio sis	32 (18 with end ometriosis, 14 controls)		AKT1 TYMP JAG1 LAMA5 TIMP-1	Show abstract
15579491	Endometrio sis	89 (57 women wi th endometriosi s, 32 controls)			Show abstract
12832381	Endometrio sis	74 (39 women wi th endometriosi s, 35 controls)		uPA PAI-1 MMP-3 TIMP-1	Show abstract
20423842	Endometrio sis	85 (35 patients with endometri osis, 22 eutopi c endometrium t issues from wom en with endomet riosis, 28 norm al controls)		TIMP-1	Show abstract
26656198	Endometrio sis	6 endometriosis patients		MMP9 TIMP1 VEGFA	Show abstract
16880228	Endometrio sis			MMP-9 TIMP-1	Show abstract
28030938	Endometrio sis	42 (18 ((n=14; primary � 11, s econdary � 3), suspicion of e ndometriosis (n =7), recurrent miscarriages (n =4) or bilater al occlusion of the fallopian tubes (n=2)), 2 2 in thecontrol group( inferti lity (n=16; pri mary � 13, sec ondary � 3; amo ng them, male f actor � 3), occ lusion of the fallopian tubes (n=11; bilater al � 5, unilate ral � 6), uteri ne fibroids (n =5), recurrent miscarriages (n =3) or suspicio n of endometri osis (n=1)))	Female infertility	MMP2 MMP9 TIMP1 TGFB2	Show abstract