Human Gene TGFB1 (ENST00000221930.6) from GENCODE V44
Description: Homo sapiens transforming growth factor beta 1 (TGFB1), mRNA. (from RefSeq NM_000660)
RefSeq Summary (NM_000660): This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016].
Gencode Transcript: ENST00000221930.6
Gencode Gene: ENSG00000105329.11
Transcript (Including UTRs)
Position: hg38 chr19:41,330,323-41,353,922 Size: 23,600 Total Exon Count: 7 Strand: -
Coding Region
Position: hg38 chr19:41,331,052-41,353,044 Size: 21,993 Coding Exon Count: 7
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: TGFB1
Diseases sorted by gene-association score: camurati-engelmann disease * (1756), cystic fibrosis * (433), renal fibrosis (36), ureteral obstruction (29), hypertrophic scars (28), keloids (27), urinary tract obstruction (25), interstitial lung disease (25), gingival overgrowth (23), peyronie's disease (22), biliary atresia (20), communicating hydrocephalus (19), facial paralysis (18), dupuytren contracture (18), nephrogenic systemic fibrosis (18), epithelial basement membrane dystrophy (18), burn scar (18), diffuse scleroderma (17), ureteral disease (17), gingival fibromatosis (16), nephrosclerosis (16), eosinophilia-myalgia syndrome (15), submandibular gland disease (15), oral submucous fibrosis (14), diabetic foot ulcers (13), juvenile myasthenia gravis (13), acoustic neuroma (12), stiff skin syndrome (12), localized scleroderma (12), idiopathic interstitial pneumonia (12), osteoarthritis (12), pulmonary fibrosis (12), pneumoconiosis (12), otosclerosis (11), hydronephrosis (11), systemic scleroderma (11), congenital absence of the vas deferens (11), idiopathic neutropenia (10), hereditary hemorrhagic telangiectasia (10), bone fracture (10), cholecystolithiasis (10), heart valve disease (10), penile disease (9), pustulosis palmaris et plantaris (9), rheumatic heart disease (9), posterior urethral valves (9), shprintzen-goldberg syndrome (9), tuberculoid leprosy (9), geleophysic dysplasia (9), osteochondrosis (9), strongyloidiasis (9), neutropenia, cyclic (9), lattice corneal dystrophy (8), liver cirrhosis (8), spinal cord injury (8), chondromyxoid fibroma (8), familial vesicoureteral reflux (8), laryngitis (8), silicosis (8), ocular cicatricial pemphigoid (8), chronic active epstein-barr virus infection (7), chagas disease (7), vitreoretinopathy, neovascular inflammatory (7), beryllium disease (7), clonorchiasis (7), recessive dystrophic epidermolysis bullosa (7), eosinophilic variant of chromophobe renal cell carcinoma (7), moyamoya disease (7), exophthalmos (7), fibromuscular dysplasia (7), pancreatic cancer (7), hyperostosis (6), vesicoureteral reflux (6), rapidly progressive glomerulonephritis (6), giardiasis (6), pulmonary fibrosis, idiopathic (6), prostatitis (6), hepatocellular carcinoma (6), eisenmenger syndrome (6), neuroma (6), chronic fatigue syndrome (6), microvascular complications of diabetes 3 (6), sick sinus syndrome (6), crouzon syndrome (6), esophagitis (5), end stage renal failure (5), nonspecific interstitial pneumonia (5), iga glomerulonephritis (5), diffuse mesangial sclerosis (5), hepatitis a (5), portal hypertension (5), craniodiaphyseal dysplasia (5), paranasal sinus disease (5), giant hemangioma (5), hepatitis b (5), epidermodysplasia verruciformis (5), osteofibrous dysplasia (5), cataract 31, multiple types (5), myelofibrosis with myeloid metaplasia, somatic (5), glomerulonephritis (5), focal segmental glomerulosclerosis (4), lacrimal duct obstruction (4), lung disease (4), osteoporosis (4), ascending cholangitis (4), liver disease (4), gingival disease (4), norwegian scabies (4), leishmaniasis (4), aortic valve disease 1 (4), calcific tendinitis (3), colorectal cancer (3), sialolithiasis (3), breast cancer (3), stomach cancer (3), malaria (3), dilated cardiomyopathy (3), differentiated thyroid carcinoma (3), renal cell carcinoma (3), prostate cancer (3), rheumatoid arthritis (2), endometrial cancer (2), hydrocephalus (2), lung cancer (2), urinary system disease (2), diamond-blackfan anemia (1)* = Manually curated disease association
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.
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.
Descriptions from all associated GenBank mRNAs
X02812 - Human mRNA for transforming growth factor-beta (TGF-beta).JD237455 - Sequence 218479 from Patent EP1572962.JD219186 - Sequence 200210 from Patent EP1572962.JD319645 - Sequence 300669 from Patent EP1572962.JD075264 - Sequence 56288 from Patent EP1572962.JD047434 - Sequence 28458 from Patent EP1572962.JD171529 - Sequence 152553 from Patent EP1572962.JD557779 - Sequence 538803 from Patent EP1572962.JD064481 - Sequence 45505 from Patent EP1572962.JD185903 - Sequence 166927 from Patent EP1572962.JD067985 - Sequence 49009 from Patent EP1572962.E00973 - cDNA encoding human TGF-beta.JD121542 - Sequence 102566 from Patent EP1572962.JD255101 - Sequence 236125 from Patent EP1572962.JD255100 - Sequence 236124 from Patent EP1572962.JD488828 - Sequence 469852 from Patent EP1572962.JD375058 - Sequence 356082 from Patent EP1572962.JD452182 - Sequence 433206 from Patent EP1572962.M38449 - Homo sapiens transforming growth factor-beta (TGF-beta) mRNA, partial cds.HV703915 - WO 2012050181-A/1: PREVENTIVE OR THERAPEUTIC AGENT FOR FIBROSIS.LV503004 - JP 2017000155-A/1: PREVENTIVE OR THERAPEUTIC AGENT FOR FIBROSIS.MA378590 - JP 2018088923-A/1: PREVENTIVE OR THERAPEUTIC AGENT FOR FIBROSIS.JD318412 - Sequence 299436 from Patent EP1572962.JD398884 - Sequence 379908 from Patent EP1572962.JD150471 - Sequence 131495 from Patent EP1572962.JD261031 - Sequence 242055 from Patent EP1572962.CQ873703 - Sequence 122 from Patent WO2004076622.DD413540 - Regulation of Mammalian Cells.JD416668 - Sequence 397692 from Patent EP1572962.JD416667 - Sequence 397691 from Patent EP1572962.JD366857 - Sequence 347881 from Patent EP1572962.JD386595 - Sequence 367619 from Patent EP1572962.HW061212 - JP 2012529430-A/87: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.JB252020 - Sequence 87 from Patent EP2440214.LF384230 - JP 2014500723-A/191733: Polycomb-Associated Non-Coding RNAs.LP764919 - Sequence 87 from Patent EP3276004.MA619807 - JP 2018138019-A/191733: Polycomb-Associated Non-Coding RNAs.BC000125 - Homo sapiens transforming growth factor, beta 1, mRNA (cDNA clone MGC:3119 IMAGE:3351664), complete cds.BC001180 - Homo sapiens transforming growth factor, beta 1, mRNA (cDNA clone MGC:2323 IMAGE:3356605), complete cds.BC022242 - Homo sapiens transforming growth factor, beta 1, mRNA (cDNA clone MGC:22008 IMAGE:4399762), complete cds.AK291907 - Homo sapiens cDNA FLJ75750 complete cds, highly similar to Homo sapiens transforming growth factor, beta 1 (Camurati-Engelmanndisease) (TGFB1), mRNA.E03028 - DNA encoding human prepro TGF-beta1.JD116363 - Sequence 97387 from Patent EP1572962.JD121945 - Sequence 102969 from Patent EP1572962.JD389828 - Sequence 370852 from Patent EP1572962.JD190584 - Sequence 171608 from Patent EP1572962.JD191218 - Sequence 172242 from Patent EP1572962.A23751 - TGF-beta1 coding region.EU832132 - Synthetic construct Homo sapiens clone HAIB:100067161; DKFZo008D1025 transforming growth factor, beta 1 protein (TGFB1) gene, encodes complete protein.KJ897662 - Synthetic construct Homo sapiens clone ccsbBroadEn_07056 TGFB1 gene, encodes complete protein.EU832225 - Synthetic construct Homo sapiens clone HAIB:100067254; DKFZo004D1026 transforming growth factor, beta 1 protein (TGFB1) gene, encodes complete protein.BT007245 - Homo sapiens transforming growth factor, beta 1 (Camurati-Engelmann disease) mRNA, complete cds.CU692504 - Synthetic construct Homo sapiens gateway clone IMAGE:100019204 5' read TGFB1 mRNA.A23755 - TGF-beta1(44/45)beta3 hybrid coding region.A23754 - TGF-beta1(44/45)beta2 hybrid coding region.AK307742 - Homo sapiens cDNA, FLJ97690.LF367150 - JP 2014500723-A/174653: Polycomb-Associated Non-Coding RNAs.MA602727 - JP 2018138019-A/174653: Polycomb-Associated Non-Coding RNAs.AY820829 - Homo sapiens transforming growth factor beta 1 mRNA, partial cds.LF367148 - JP 2014500723-A/174651: Polycomb-Associated Non-Coding RNAs.MA602725 - JP 2018138019-A/174651: Polycomb-Associated Non-Coding RNAs.LF212094 - JP 2014500723-A/19597: Polycomb-Associated Non-Coding RNAs.MA447671 - JP 2018138019-A/19597: Polycomb-Associated Non-Coding RNAs.JD476913 - Sequence 457937 from Patent EP1572962.LF213070 - JP 2014500723-A/20573: Polycomb-Associated Non-Coding RNAs.MA448647 - JP 2018138019-A/20573: Polycomb-Associated Non-Coding RNAs.JD408098 - Sequence 389122 from Patent EP1572962.JD394113 - Sequence 375137 from Patent EP1572962.JD126900 - Sequence 107924 from Patent EP1572962.JD054667 - Sequence 35691 from Patent EP1572962.JD380735 - Sequence 361759 from Patent EP1572962.JD329740 - Sequence 310764 from Patent EP1572962.LF367147 - JP 2014500723-A/174650: Polycomb-Associated Non-Coding RNAs.MA602724 - JP 2018138019-A/174650: Polycomb-Associated Non-Coding RNAs.JD142470 - Sequence 123494 from Patent EP1572962.JD520508 - Sequence 501532 from Patent EP1572962.JD147618 - Sequence 128642 from Patent EP1572962.JD234287 - Sequence 215311 from Patent EP1572962.JD340379 - Sequence 321403 from Patent EP1572962.JD471505 - Sequence 452529 from Patent EP1572962.JD484078 - Sequence 465102 from Patent EP1572962.JD381628 - Sequence 362652 from Patent EP1572962.LF367146 - JP 2014500723-A/174649: Polycomb-Associated Non-Coding RNAs.MA602723 - JP 2018138019-A/174649: Polycomb-Associated Non-Coding RNAs.JD205505 - Sequence 186529 from Patent EP1572962.JD141664 - Sequence 122688 from Patent EP1572962.JD210619 - Sequence 191643 from Patent EP1572962.MB023309 - WO 2019074110-A/5: A single-stranded nucleic acid molecule and a production method thereof.MP202690 - Sequence 1 from Patent WO2019090263.MP245291 - Sequence 1 from Patent EP3517614.
Biochemical and Signaling Pathways
Other Names for This Gene
Alternate Gene Symbols: A0A499FJK2, ENST00000221930.1, ENST00000221930.2, ENST00000221930.3, ENST00000221930.4, ENST00000221930.5, NM_000660, uc002oqh.1, uc002oqh.2, uc002oqh.3, uc002oqh.4, uc002oqh.5UCSC ID: ENST00000221930.6RefSeq Accession: NM_000660
CCDS: CCDS33031.1
GeneReviews for This Gene
GeneReviews article(s) related to gene TGFB1:ced (Camurati-Engelmann Disease)
Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.