Human Gene TIMP1 (ENST00000218388.9) from GENCODE V44
Description: Homo sapiens TIMP metallopeptidase inhibitor 1 (TIMP1), mRNA. (from RefSeq NM_003254)
RefSeq Summary (NM_003254): 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].
Gencode Transcript: ENST00000218388.9
Gencode Gene: ENSG00000102265.12
Transcript (Including UTRs)
Position: hg38 chrX:47,582,436-47,586,789 Size: 4,354 Total Exon Count: 6 Strand: +
Coding Region
Position: hg38 chrX:47,583,416-47,586,691 Size: 3,276 Coding Exon Count: 5
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
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
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)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
ModBase Predicted Comparative 3D Structure on Q6FGX5
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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.MA447013 - JP 2018138019-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.MA615130 - JP 2018138019-A/187056: Polycomb-Associated Non-Coding RNAs.LF379555 - JP 2014500723-A/187058: Polycomb-Associated Non-Coding RNAs.MA615132 - JP 2018138019-A/187058: Polycomb-Associated Non-Coding RNAs.LF379559 - JP 2014500723-A/187062: Polycomb-Associated Non-Coding RNAs.MA615136 - JP 2018138019-A/187062: Polycomb-Associated Non-Coding RNAs.LF379561 - JP 2014500723-A/187064: Polycomb-Associated Non-Coding RNAs.MA615138 - JP 2018138019-A/187064: Polycomb-Associated Non-Coding RNAs.LF379565 - JP 2014500723-A/187068: Polycomb-Associated Non-Coding RNAs.MA615142 - JP 2018138019-A/187068: Polycomb-Associated Non-Coding RNAs.LF379567 - JP 2014500723-A/187070: Polycomb-Associated Non-Coding RNAs.MA615144 - JP 2018138019-A/187070: Polycomb-Associated Non-Coding RNAs.JD549753 - Sequence 530777 from Patent EP1572962.LF379568 - JP 2014500723-A/187071: 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, RP1-230G1.3-001, uc004dif.1, uc004dif.2, uc004dif.3, uc004dif.4, uc004dif.5UCSC ID: ENST00000218388.9RefSeq Accession: NM_003254
Protein: Q6FGX5
CCDS: CCDS14281.1
Methods, Credits, and Use Restrictions
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