Gene: TGFB1

Basic information

Tag Content
Uniprot ID P01137; A8K792; Q9UCG4;
Entrez ID 7040
Genbank protein ID CAA26580.1; AAP35909.1; CAA29283.1; AAH01180.1; AAH22242.1; BAF84596.1; AAA36735.1; EAW57032.1; AAH00125.1;
Genbank nucleotide ID NM_000660.6
Ensembl protein ID
Ensembl nucleotide ID
Gene name Transforming growth factor beta-1 proprotein
Gene symbol TGFB1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 26954016
Functional description Transforming growth factor beta-1 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-1 (TGF-beta-1) chains, which constitute the regulatory and active subunit of TGF-beta-1, respectively.
Sequence
MPPSGLRLLL LLLPLLWLLV LTPGRPAAGL STCKTIDMEL VKRKRIEAIR GQILSKLRLA 60
SPPSQGEVPP GPLPEAVLAL YNSTRDRVAG ESAEPEPEPE ADYYAKEVTR VLMVETHNEI 120
YDKFKQSTHS IYMFFNTSEL REAVPEPVLL SRAELRLLRL KLKVEQHVEL YQKYSNNSWR 180
YLSNRLLAPS DSPEWLSFDV TGVVRQWLSR GGEIEGFRLS AHCSCDSRDN TLQVDINGFT 240
TGRRGDLATI HGMNRPFLLL MATPLERAQH LQSSRHRRAL DTNYCFSSTE KNCCVRQLYI 300
DFRKDLGWKW IHEPKGYHAN FCLGPCPYIW SLDTQYSKVL ALYNQHNPGA SAAPCCVPQA 360
LEPLPIVYYV GRKPKVEQLS NMIVRSCKCS

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


loading...

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologTGFB1F1PI70Canis lupus familiarisPredictionMore>>
1:1 orthologTGF beta102191364G9LQW0Capra hircusPredictionMore>>
1:1 orthologTGFB1100033900O19011Equus caballusPredictionMore>>
1:1 orthologTGFB17040P01137Homo sapiensPublicationMore>>
1:1 orthologTgfb121803P04202CPOE12.5, E14.0, E13.5, E15.0, E14.5, E15.5, E17.5Mus musculusPublicationMore>>
1:1 orthologTGFB1456060H2QGE0Pan troglodytesPredictionMore>>
1:1 orthologTGFB1397078P07200Sus scrofaPredictionMore>>
1:1 orthologTgfb159086P17246Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
TGFB1p.Arg25ProPCR; sequencing26954016
TGFB1p.Pro10LeuPCR; sequencing26954016

Other genetic variants/mutations

loading...

Disease or phenotype associated information

loading...

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003823 antigen bindingIPI
GO:0005114 type II transforming growth factor beta receptor bindingIDA
GO:0005114 type II transforming growth factor beta receptor bindingIPI
GO:0005114 type II transforming growth factor beta receptor bindingIBA
GO:0005114 type II transforming growth factor beta receptor bindingIMP
GO:0005125 cytokine activityIBA
GO:0005125 cytokine activityTAS
GO:0005515 protein bindingIPI
GO:0008083 growth factor activityIEA
GO:0019899 enzyme bindingIPI
GO:0034713 type I transforming growth factor beta receptor bindingIPI
GO:0034713 type I transforming growth factor beta receptor bindingIMP
GO:0034714 type III transforming growth factor beta receptor bindingIPI
GO:0034714 type III transforming growth factor beta receptor bindingIBA
GO:0034714 type III transforming growth factor beta receptor bindingIMP
GO:0042802 identical protein bindingIPI

GO:Biological Process

GO ID GO Term Evidence
GO:0000165 MAPK cascadeIMP
GO:0001570 vasculogenesisISS
GO:0001837 epithelial to mesenchymal transitionIDA
GO:0001843 neural tube closureISS
GO:0001933 negative regulation of protein phosphorylationIDA
GO:0001934 positive regulation of protein phosphorylationIDA
GO:0002062 chondrocyte differentiationIDA
GO:0002244 hematopoietic progenitor cell differentiationIDA
GO:0002248 connective tissue replacement involved in inflammatory response wound healingTAS
GO:0002576 platelet degranulationTAS
GO:0003179 heart valve morphogenesisISS
GO:0003180 aortic valve morphogenesisIMP
GO:0006468 protein phosphorylationISS
GO:0006611 protein export from nucleusIDA
GO:0006754 ATP biosynthetic processIDA
GO:0006796 phosphate-containing compound metabolic processIDA
GO:0006954 inflammatory responseIDA
GO:0007050 cell cycle arrestIDA
GO:0007093 mitotic cell cycle checkpointIDA
GO:0007173 epidermal growth factor receptor signaling pathwayIDA
GO:0007179 transforming growth factor beta receptor signaling pathwayIDA
GO:0007179 transforming growth factor beta receptor signaling pathwayIBA
GO:0007179 transforming growth factor beta receptor signaling pathwayTAS
GO:0007182 common-partner SMAD protein phosphorylationIDA
GO:0007183 SMAD protein complex assemblyIDA
GO:0007435 salivary gland morphogenesisIEP
GO:0007507 heart developmentISS
GO:0008284 positive regulation of cell population proliferationIDA
GO:0008284 positive regulation of cell population proliferationIMP
GO:0008285 negative regulation of cell population proliferationIMP
GO:0008285 negative regulation of cell population proliferationIDA
GO:0009611 response to woundingIEP
GO:0010575 positive regulation of vascular endothelial growth factor productionTAS
GO:0010628 positive regulation of gene expressionISS
GO:0010628 positive regulation of gene expressionIDA
GO:0010628 positive regulation of gene expressionIGI
GO:0010628 positive regulation of gene expressionIMP
GO:0010629 negative regulation of gene expressionISS
GO:0010629 negative regulation of gene expressionIDA
GO:0010629 negative regulation of gene expressionIGI
GO:0010716 negative regulation of extracellular matrix disassemblyIC
GO:0010718 positive regulation of epithelial to mesenchymal transitionIDA
GO:0010718 positive regulation of epithelial to mesenchymal transitionNAS
GO:0010742 macrophage derived foam cell differentiationIC
GO:0010763 positive regulation of fibroblast migrationIDA
GO:0010800 positive regulation of peptidyl-threonine phosphorylationIDA
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIDA
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylationIBA
GO:0010936 negative regulation of macrophage cytokine productionIDA
GO:0014008 positive regulation of microglia differentiationISS
GO:0016202 regulation of striated muscle tissue developmentISS
GO:0016477 cell migrationIDA
GO:0017015 regulation of transforming growth factor beta receptor signaling pathwayIDA
GO:0019221 cytokine-mediated signaling pathwayTAS
GO:0021915 neural tube developmentISS
GO:0022408 negative regulation of cell-cell adhesionIDA
GO:0030214 hyaluronan catabolic processIDA
GO:0030308 negative regulation of cell growthIDA
GO:0030334 regulation of cell migrationTAS
GO:0030335 positive regulation of cell migrationIDA
GO:0030335 positive regulation of cell migrationIMP
GO:0030501 positive regulation of bone mineralizationIEP
GO:0030509 BMP signaling pathwayIBA
GO:0030512 negative regulation of transforming growth factor beta receptor signaling pathwayTAS
GO:0031293 membrane protein intracellular domain proteolysisIDA
GO:0031334 positive regulation of protein-containing complex assemblyIDA
GO:0031663 lipopolysaccharide-mediated signaling pathwayIDA
GO:0032270 positive regulation of cellular protein metabolic processIDA
GO:0032355 response to estradiolIDA
GO:0032570 response to progesteroneIDA
GO:0032740 positive regulation of interleukin-17 productionIDA
GO:0032801 receptor catabolic processIDA
GO:0032930 positive regulation of superoxide anion generationIDA
GO:0032967 positive regulation of collagen biosynthetic processIMP
GO:0032967 positive regulation of collagen biosynthetic processIDA
GO:0032967 positive regulation of collagen biosynthetic processIGI
GO:0033138 positive regulation of peptidyl-serine phosphorylationIDA
GO:0035307 positive regulation of protein dephosphorylationIDA
GO:0042127 regulation of cell population proliferationIBA
GO:0042306 regulation of protein import into nucleusISS
GO:0042307 positive regulation of protein import into nucleusIDA
GO:0043117 positive regulation of vascular permeabilityIDA
GO:0043406 positive regulation of MAP kinase activityIDA
GO:0043491 protein kinase B signalingIMP
GO:0043536 positive regulation of blood vessel endothelial cell migrationIDA
GO:0043537 negative regulation of blood vessel endothelial cell migrationIDA
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activityIDA
GO:0043932 ossification involved in bone remodelingIEP
GO:0045216 cell-cell junction organizationIDA
GO:0045596 negative regulation of cell differentiationIEP
GO:0045599 negative regulation of fat cell differentiationIDA
GO:0045662 negative regulation of myoblast differentiationIDA
GO:0045786 negative regulation of cell cycleIDA
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045893 positive regulation of transcription, DNA-templatedISS
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045918 negative regulation of cytolysisIDA
GO:0045930 negative regulation of mitotic cell cycleIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIDA
GO:0048298 positive regulation of isotype switching to IgA isotypesIDA
GO:0048535 lymph node developmentISS
GO:0048642 negative regulation of skeletal muscle tissue developmentIDA
GO:0050680 negative regulation of epithelial cell proliferationIMP
GO:0050680 negative regulation of epithelial cell proliferationIDA
GO:0050714 positive regulation of protein secretionIDA
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylationIDA
GO:0050900 leukocyte migrationTAS
GO:0050921 positive regulation of chemotaxisIDA
GO:0051098 regulation of bindingISS
GO:0051101 regulation of DNA bindingISS
GO:0051781 positive regulation of cell divisionIEA
GO:0051897 positive regulation of protein kinase B signalingIDA
GO:0055010 ventricular cardiac muscle tissue morphogenesisISS
GO:0060312 regulation of blood vessel remodelingIC
GO:0060312 regulation of blood vessel remodelingNAS
GO:0060389 pathway-restricted SMAD protein phosphorylationIDA
GO:0060390 regulation of SMAD protein signal transductionIDA
GO:0060391 positive regulation of SMAD protein signal transductionIDA
GO:0060395 SMAD protein signal transductionIBA
GO:0060965 negative regulation of gene silencing by miRNAIGI
GO:0070168 negative regulation of biomineral tissue developmentIDA
GO:0070374 positive regulation of ERK1 and ERK2 cascadeIDA
GO:0070723 response to cholesterolIDA
GO:0071407 cellular response to organic cyclic compoundIDA
GO:0071560 cellular response to transforming growth factor beta stimulusIDA
GO:0071560 cellular response to transforming growth factor beta stimulusIGI
GO:0085029 extracellular matrix assemblyIDA
GO:0090263 positive regulation of canonical Wnt signaling pathwayIDA
GO:0097191 extrinsic apoptotic signaling pathwayIDA
GO:1900126 negative regulation of hyaluronan biosynthetic processIDA
GO:1900182 positive regulation of protein localization to nucleusIDA
GO:1901203 positive regulation of extracellular matrix assemblyIC
GO:1901666 positive regulation of NAD+ ADP-ribosyltransferase activityIDA
GO:1902895 positive regulation of pri-miRNA transcription by RNA polymerase IIIDA
GO:1903077 negative regulation of protein localization to plasma membraneIDA
GO:1903799 negative regulation of production of miRNAs involved in gene silencing by miRNAIGI
GO:1903800 positive regulation of production of miRNAs involved in gene silencing by miRNAIDA
GO:1905313 transforming growth factor beta receptor signaling pathway involved in heart developmentISS
GO:1990402 embryonic liver developmentISS
GO:2000679 positive regulation of transcription regulatory region DNA bindingIDA
GO:2000727 positive regulation of cardiac muscle cell differentiationIDA
GO:1902893 regulation of pri-miRNA transcription by RNA polymerase IIIMP
GO:1905005 regulation of epithelial to mesenchymal transition involved in endocardial cushion formationISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005615 extracellular spaceIDA
GO:0005615 extracellular spaceIBA
GO:0005634 nucleusIDA
GO:0005737 cytoplasmIDA
GO:0005796 Golgi lumenTAS
GO:0005886 plasma membraneTAS
GO:0009986 cell surfaceIMP
GO:0031012 extracellular matrixISS
GO:0031093 platelet alpha granule lumenTAS
GO:0062023 collagen-containing extracellular matrixHDA
GO:0072562 blood microparticleHDA
GO:0005902 microvillusIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109582 HemostasisTAS
R-HSA-114608 Platelet degranulation TAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1474244 Extracellular matrix organizationTAS
R-HSA-1474244 Extracellular matrix organizationIEA
R-HSA-1566948 Elastic fibre formationTAS
R-HSA-162582 Signal TransductionTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-1643685 DiseaseTAS
R-HSA-168253 Host Interactions with Influenza FactorsTAS
R-HSA-168254 Influenza InfectionTAS
R-HSA-168256 Immune SystemTAS
R-HSA-168277 Influenza Virus Induced ApoptosisTAS
R-HSA-170834 Signaling by TGF-beta Receptor ComplexTAS
R-HSA-170834 Signaling by TGF-beta Receptor ComplexIEA
R-HSA-202733 Cell surface interactions at the vascular wallTAS
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-2129379 Molecules associated with elastic fibresTAS
R-HSA-2173788 Downregulation of TGF-beta receptor signalingTAS
R-HSA-2173788 Downregulation of TGF-beta receptor signalingIEA
R-HSA-2173789 TGF-beta receptor signaling activates SMADsTAS
R-HSA-2173789 TGF-beta receptor signaling activates SMADsIEA
R-HSA-2173791 TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)TAS
R-HSA-2173791 TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)IEA
R-HSA-3000170 Syndecan interactionsTAS
R-HSA-3000171 Non-integrin membrane-ECM interactionsTAS
R-HSA-3000178 ECM proteoglycansIEA
R-HSA-3304349 Loss of Function of SMAD2/3 in CancerTAS
R-HSA-3304351 Signaling by TGF-beta Receptor Complex in CancerTAS
R-HSA-3304356 SMAD2/3 Phosphorylation Motif Mutants in CancerTAS
R-HSA-3642278 Loss of Function of TGFBR2 in CancerTAS
R-HSA-3642279 TGFBR2 MSI Frameshift Mutants in CancerTAS
R-HSA-3645790 TGFBR2 Kinase Domain Mutants in CancerTAS
R-HSA-3656532 TGFBR1 KD Mutants in CancerTAS
R-HSA-3656534 Loss of Function of TGFBR1 in CancerTAS
R-HSA-3656535 TGFBR1 LBD Mutants in CancerTAS
R-HSA-381340 Transcriptional regulation of white adipocyte differentiationIEA
R-HSA-392499 Metabolism of proteinsIEA
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-5663202 Diseases of signal transductionTAS
R-HSA-5663205 Infectious diseaseTAS
R-HSA-5688426 DeubiquitinationIEA
R-HSA-5689603 UCH proteinasesIEA
R-HSA-597592 Post-translational protein modificationIEA
R-HSA-6785807 Interleukin-4 and Interleukin-13 signalingTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-76002 Platelet activation, signaling and aggregationTAS
R-HSA-76005 Response to elevated platelet cytosolic Ca2+TAS
R-HSA-8878159 Transcriptional regulation by RUNX3TAS
R-HSA-8941855 RUNX3 regulates CDKN1A transcriptionTAS
R-HSA-8941858 Regulation of RUNX3 expression and activityTAS
R-HSA-8951936 RUNX3 regulates p14-ARFTAS
R-HSA-9006936 Signaling by TGF-beta family membersTAS
R-HSA-9006936 Signaling by TGF-beta family membersIEA

Drugs and compounds information

loading...

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0165 Cleavage on pair of basic residues
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0272 Extracellular matrix
KW-0325 Glycoprotein
KW-0339 Growth factor
KW-0497 Mitogen
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0964 Secreted
KW-0732 Signal

Interpro

InterPro ID InterPro Term
IPR029034 Cystine-knot_cytokine
IPR001839 TGF-b_C
IPR001111 TGF-b_propeptide
IPR016319 TGF-beta
IPR015615 TGF-beta-rel
IPR003939 TGFb1
IPR017948 TGFb_CS

PROSITE

PROSITE ID PROSITE Term
PS00250 TGF_BETA_1
PS51362 TGF_BETA_2

Pfam

Pfam ID Pfam Term
PF00019 TGF_beta
PF00688 TGFb_propeptide

Protein-protein interaction

Protein-miRNA interaction