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 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
GeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:41,330,323-41,353,922)mRNA (may differ from genome)Protein (390 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
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HGNCHPRDLynxMalacardsMGIOMIM
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-  Primer design for this transcript
 

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-  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)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 146.30 RPKM in Whole Blood
Total median expression: 1293.68 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 -395.40878-0.450 Picture PostScript Text
3' UTR -271.70729-0.373 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.

-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04010 - MAPK signaling pathway
hsa04060 - Cytokine-cytokine receptor interaction
hsa04110 - Cell cycle
hsa04144 - Endocytosis
hsa04350 - TGF-beta signaling pathway
hsa04672 - Intestinal immune network for IgA production
hsa05140 - Leishmaniasis
hsa05142 - Chagas disease
hsa05200 - Pathways in cancer
hsa05210 - Colorectal cancer
hsa05211 - Renal cell carcinoma
hsa05212 - Pancreatic cancer
hsa05220 - Chronic myeloid leukemia
hsa05410 - Hypertrophic cardiomyopathy (HCM)
hsa05414 - Dilated cardiomyopathy

BioCarta from NCI Cancer Genome Anatomy Project
h_p38mapkPathway - p38 MAPK Signaling Pathway
h_erythPathway - Erythrocyte Differentiation Pathway
h_inflamPathway - Cytokines and Inflammatory Response
h_mapkPathway - MAPKinase Signaling Pathway
h_tgfbPathway - TGF beta signaling pathway
h_tob1Pathway - Role of Tob in T-cell activation
h_alkPathway - ALK in cardiac myocytes
h_ctcfPathway - CTCF: First Multivalent Nuclear Factor
h_nktPathway - Selective expression of chemokine receptors during T-cell polarization
h_slrp2Pathway - Function of SLRP in Bone: An Integrated View
h_g1Pathway - Cell Cycle: G1/S Check Point
h_il1rPathway - Signal transduction through IL1R

-  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.5
UCSC ID: ENST00000221930.6
RefSeq 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
  Click here for details on how this gene model was made and data restrictions if any.