Human Gene TIMP1 (ENST00000218388.9_4) from GENCODE V47lift37
  Description: TIMP metallopeptidase inhibitor 1 (from RefSeq NM_003254.3)
Gencode Transcript: ENST00000218388.9_4
Gencode Gene: ENSG00000102265.12_7
Transcript (Including UTRs)
   Position: hg19 chrX:47,441,835-47,446,188 Size: 4,354 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chrX:47,442,815-47,446,090 Size: 3,276 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:47,441,835-47,446,188)mRNA (may differ from genome)Protein (207 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: Q6FGX5_HUMAN
DESCRIPTION: SubName: Full=TIMP metallopeptidase inhibitor 1; SubName: Full=TIMP metallopeptidase inhibitor 1, isoform CRA_a; SubName: Full=TIMP1 protein; SubName: Full=cDNA, FLJ92204, Homo sapiens tissue inhibitor of metalloproteinase 1 (erythroidpotentiating activity, collagenase inhibitor) (TIMP1), mRNA;
SIMILARITY: Contains 1 NTR domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
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To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TIMP1
Diseases sorted by gene-association score: oral submucous fibrosis (20), chronic venous leg ulcers (18), lung giant cell carcinoma (17), gingival overgrowth (15), abdominal aortic aneurysm (14), conjunctivochalasis (14), cryptogenic organizing pneumonia (12), lymphoma, large-cell, immunoblastic (10), biliary atresia (10), kawasaki disease (9), pleural tuberculosis (9), joint disorders (9), hypertrophic scars (9), chronic venous insufficiency (8), mid-dermal elastolysis (8), keratoconus (8), gingival fibromatosis (8), relapsing-remitting multiple sclerosis (8), fibrosarcoma (7), periodontal disease (7), retinitis pigmentosa 2 (7), tendinosis (7), sorsby fundus dystrophy (7), tonsil squamous cell carcinoma (7), bronchopulmonary dysplasia (7), venous insufficiency (7), vulvar intraepithelial neoplasia (7), endodermal sinus tumor (7), carotid artery disease (7), pulmonary emphysema (6), spinal stenosis (6), bronchiolitis obliterans (6), inguinal hernia (6), hydronephrosis (6), appendicitis (6), periodontitis (6), h. pylori infection (6), conjunctival nevus (6), microcystic meningioma (6), gingival disease (5), vitreoretinopathy, neovascular inflammatory (5), myelofibrosis with myeloid metaplasia, somatic (5), liver cirrhosis (5), nasal cavity squamous cell carcinoma (5), osteoarthritis (5), central nervous system tuberculosis (5), aland island eye disease (5), nephrogenic systemic fibrosis (4), fundus dystrophy (4), bone deterioration disease (4), eumycotic mycetoma (4), diffuse pulmonary fibrosis (4), pulmonary fibrosis (4), breast cancer (3), appendix adenocarcinoma (3), aortic aneurysm (3), interstitial lung disease (3), lung cancer (3), refractive error (2), rheumatoid arthritis (2), colorectal cancer (2), obesity (2), pulmonary fibrosis, idiopathic (2), myocardial infarction (1), dilated cardiomyopathy (1), bone inflammation disease (1), retinitis pigmentosa (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 632.53 RPKM in Artery - Coronary
Total median expression: 5613.26 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -2.5047-0.053 Picture PostScript Text
3' UTR -17.6098-0.180 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001134 - Netrin_domain
IPR001820 - Prot_inh_TIMP
IPR008993 - TIMP-like_OB-fold
IPR015611 - TIMP1

Pfam Domains:
PF00965 - Tissue inhibitor of metalloproteinase

SCOP Domains:
50242 - TIMP-like

ModBase Predicted Comparative 3D Structure on Q6FGX5
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0002020 protease binding
GO:0008191 metalloendopeptidase inhibitor activity

Biological Process:
GO:0001775 cell activation
GO:0002248 connective tissue replacement involved in inflammatory response wound healing
GO:0007568 aging
GO:0010033 response to organic substance
GO:0010951 negative regulation of endopeptidase activity
GO:0034097 response to cytokine
GO:0042060 wound healing
GO:0043066 negative regulation of apoptotic process
GO:0043434 response to peptide hormone
GO:0051216 cartilage development

Cellular Component:
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005604 basement membrane
GO:0031012 extracellular matrix


-  Descriptions from all associated GenBank mRNAs
  LF385311 - JP 2014500723-A/192814: Polycomb-Associated Non-Coding RNAs.
MA620888 - JP 2018138019-A/192814: Polycomb-Associated Non-Coding RNAs.
HW418419 - JP 2013543722-A/1: MODULATION of TIMP1 and TIMP2 EXPRESSION.
JB810680 - Sequence 1 from Patent EP2621502.
LF791224 - JP 2016185150-A/1: MODULATION of TIMP1 and TIMP2 EXPRESSION.
LP895638 - Sequence 502 from Patent EP3253886.
LF211436 - JP 2014500723-A/18939: Polycomb-Associated Non-Coding RNAs.
AK074854 - Homo sapiens cDNA FLJ90373 fis, clone NT2RP2004606, highly similar to Metalloproteinase inhibitor 1 precursor.
AK296116 - Homo sapiens cDNA FLJ60276 complete cds, weakly similar to Metalloproteinase inhibitor 1 precursor.
BC000866 - Homo sapiens TIMP metallopeptidase inhibitor 1, mRNA (cDNA clone MGC:5065 IMAGE:3460153), complete cds.
GQ891504 - Homo sapiens clone HEL-S-225 epididymis secretory sperm binding protein mRNA, complete cds.
BC007097 - Homo sapiens TIMP metallopeptidase inhibitor 1, mRNA (cDNA clone IMAGE:4272513).
E00985 - cDNA encoding NIC(Natural Inhibitor of Collagenase).
X03124 - Human mRNA for tissue inhibitor of metalloproteinases (TIMP).
A10416 - Nucleotide sequence of human TIMP cDNA.
M12670 - Human fibroblast collagenase inhibitor mRNA, complete cds.
E01043 - cDNA encoding human metaloprotease inhibitor.
AK310206 - Homo sapiens cDNA, FLJ17248.
AK311937 - Homo sapiens cDNA, FLJ92204, Homo sapiens tissue inhibitor of metalloproteinase 1 (erythroidpotentiating activity, collagenase inhibitor) (TIMP1), mRNA.
AK307222 - Homo sapiens cDNA, FLJ97170.
M59906 - Homo sapiens collagenase inhibitor (CLGI) mRNA, complete cds.
X02598 - Human mRNA for EPA glycoprotein (erythroid-potentiating activity).
JD386991 - Sequence 368015 from Patent EP1572962.
DQ891122 - Synthetic construct clone IMAGE:100003752; FLH169510.01X; RZPDo839D0296D TIMP metallopeptidase inhibitor 1 (TIMP1) gene, encodes complete protein.
DQ894301 - Synthetic construct Homo sapiens clone IMAGE:100008761; FLH169506.01L; RZPDo839D0295D TIMP metallopeptidase inhibitor 1 (TIMP1) gene, encodes complete protein.
S68252 - TIMP-1=metalloproteinase inhibitor [human, keratoconus keratocytes, mRNA, 636 nt].
KJ905941 - Synthetic construct Homo sapiens clone ccsbBroadEn_15611 TIMP1 gene, encodes complete protein.
CU674426 - Synthetic construct Homo sapiens gateway clone IMAGE:100018577 5' read TIMP1 mRNA.
CR407638 - Homo sapiens full open reading frame cDNA clone RZPDo834F072D for gene TIMP1, tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor) complete cds, without stopcodon.
CR541982 - Homo sapiens full open reading frame cDNA clone RZPDo834B0335D for gene TIMP1, tissue inhibitor of metalloproteinase 1 (erythroid potentiating activity, collagenase inhibitor); complete cds, incl. stopcodon.
LF379553 - JP 2014500723-A/187056: Polycomb-Associated Non-Coding RNAs.
LF379555 - JP 2014500723-A/187058: Polycomb-Associated Non-Coding RNAs.
LF379559 - JP 2014500723-A/187062: Polycomb-Associated Non-Coding RNAs.
LF379561 - JP 2014500723-A/187064: Polycomb-Associated Non-Coding RNAs.
LF379565 - JP 2014500723-A/187068: Polycomb-Associated Non-Coding RNAs.
LF379567 - JP 2014500723-A/187070: Polycomb-Associated Non-Coding RNAs.
JD549753 - Sequence 530777 from Patent EP1572962.
LF379568 - JP 2014500723-A/187071: Polycomb-Associated Non-Coding RNAs.
MA447013 - JP 2018138019-A/18939: Polycomb-Associated Non-Coding RNAs.
MA615130 - JP 2018138019-A/187056: Polycomb-Associated Non-Coding RNAs.
MA615132 - JP 2018138019-A/187058: Polycomb-Associated Non-Coding RNAs.
MA615136 - JP 2018138019-A/187062: Polycomb-Associated Non-Coding RNAs.
MA615138 - JP 2018138019-A/187064: Polycomb-Associated Non-Coding RNAs.
MA615142 - JP 2018138019-A/187068: Polycomb-Associated Non-Coding RNAs.
MA615144 - JP 2018138019-A/187070: Polycomb-Associated Non-Coding RNAs.
MA615145 - JP 2018138019-A/187071: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_reckPathway - Inhibition of Matrix Metalloproteinases

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000218388.1, ENST00000218388.2, ENST00000218388.3, ENST00000218388.4, ENST00000218388.5, ENST00000218388.6, ENST00000218388.7, ENST00000218388.8, hCG_29141 , NM_003254, Q6FGX5, Q6FGX5_HUMAN, TIMP1 , uc317cvo.1, uc317cvo.2
UCSC ID: ENST00000218388.9_4
RefSeq Accession: NM_003254.3
Protein: Q6FGX5

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.