AutismKB 2.0

Annotation Details for TGFB1


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Basic Information Top
Gene Symbol:TGFB1 ( CED,DPD1,LAP,TGFB,TGFbeta )
Gene Full Name: transforming growth factor, beta 1
Band: 19q13.1
Quick LinksEntrez ID:7040; OMIM: 190180; Uniprot ID:TGFB1_HUMAN; ENSEMBL ID: ENSG00000105329; HGNC ID: 11766
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005576TAS-extracellular region-
GO:0005578ISS-proteinaceous extracellular matrix-
GO:0005615IDA-extracellular space19734317
GO:0005634IDA-nucleus18040277
GO:0005737IDA-cytoplasm18040277
GO:0005796TAS-Golgi lumen-
GO:0005886TAS-plasma membrane-
GO:0005902IDAcolocalizes_withmicrovillus19366691
GO:0009986IMP-cell surface19366691
GO:0030424IEA-axon-
GO:0031012IDA-extracellular matrix23979707
GO:0031093TAS-platelet alpha granule lumen-
GO:0043025IEA-neuronal cell body-
GO:0072562IDA-blood microparticle22516433
GO ID Evidence Qualifier GO_term References
GO:0001948IPI-glycoprotein binding15247411
GO:0003823IPI-antigen binding16754747
GO:0005114IDA-type II transforming growth factor beta receptor binding11157754
GO:0005114IMP-type II transforming growth factor beta receptor binding8167376
GO:0005114IPI-type II transforming growth factor beta receptor binding1333888
GO:0005125TAS-cytokine activity24263861
GO:0005160TAS-transforming growth factor beta receptor binding-
GO:0005515IPI-protein binding1326540
GO:0008083IEA-growth factor activity-
GO:0019899IPI-enzyme binding19366691
GO:0034713IMP-type I transforming growth factor beta receptor binding8167376
GO:0034713IPI-type I transforming growth factor beta receptor binding10885742
GO:0034714IMP-type III transforming growth factor beta receptor binding8167376
GO:0034714IPI-type III transforming growth factor beta receptor binding10092230
GO:0042803IEA-protein homodimerization activity-
GO:0043539IEA-protein serine/threonine kinase activator activity-
GO:0046982IEA-protein heterodimerization activity-
GO:0047485IEA-protein N-terminus binding-
GO ID Evidence Qualifier GO_term References
GO:0000060IDA-protein import into nucleus, translocation21390327
GO:0000122IEA-negative regulation of transcription from RNA polymerase II promoter-
GO:0000165IMP-MAPK cascade21147091
GO:0001570ISS-vasculogenesis-
GO:0001657IEA-ureteric bud development-
GO:0001666IEA-response to hypoxia-
GO:0001837IDA-epithelial to mesenchymal transition25893292
GO:0001843ISS-neural tube closure-
GO:0001933IDA-negative regulation of protein phosphorylation8053900
GO:0001934IDA-positive regulation of protein phosphorylation18625725
GO:0002028IEA-regulation of sodium ion transport-
GO:0002062IDA-chondrocyte differentiation15040835
GO:0002244IDA-hematopoietic progenitor cell differentiation15451575
GO:0002248TAS-connective tissue replacement involved in inflammatory response wound healing9639571
GO:0002460IEA-adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains-
GO:0002513IEA-tolerance induction to self antigen-
GO:0002576TAS-platelet degranulation-
GO:0003179ISS-heart valve morphogenesis-
GO:0006468ISS-protein phosphorylation-
GO:0006611IDA-protein export from nucleus9770491
GO:0006754IDA-ATP biosynthetic process10513816
GO:0006796IDA-phosphate-containing compound metabolic process10513816
GO:0006874IEA-cellular calcium ion homeostasis-
GO:0006954IDA-inflammatory response21147091
GO:0007050IDA-cell cycle arrest14555988
GO:0007093IDA-mitotic cell cycle checkpoint15334054
GO:0007173IDA-epidermal growth factor receptor signaling pathway18625725
GO:0007179IDA-transforming growth factor beta receptor signaling pathway9389648
GO:0007179TAS-transforming growth factor beta receptor signaling pathway-
GO:0007182IDA-common-partner SMAD protein phosphorylation20573232
GO:0007183IDA-SMAD protein complex assembly17438144
GO:0007184IDA-SMAD protein import into nucleus15334054
GO:0007219IEA-Notch signaling pathway-
GO:0007406IEA-negative regulation of neuroblast proliferation-
GO:0007435IEP-salivary gland morphogenesis18080134
GO:0007492IEA-endoderm development-
GO:0007507ISS-heart development-
GO:0007565IEA-female pregnancy-
GO:0007568IEA-aging-
GO:0008156IMP-negative regulation of DNA replication11158066
GO:0008284IDA-positive regulation of cell proliferation10513816
GO:0008284IMP-positive regulation of cell proliferation26169693
GO:0008285IDA-negative regulation of cell proliferation15334054
GO:0008354IEA-germ cell migration-
GO:0009611IEP-response to wounding18040277
GO:0009749IEA-response to glucose-
GO:0009817IEA-defense response to fungus, incompatible interaction-
GO:0010575TAS-positive regulation of vascular endothelial growth factor production19506300
GO:0010628IDA-positive regulation of gene expression18625725
GO:0010628IGI-positive regulation of gene expression22269326
GO:0010628IMP-positive regulation of gene expression26169693
GO:0010629IDA-negative regulation of gene expression19913496
GO:0010629IGI-negative regulation of gene expression22269326
GO:0010716IC-negative regulation of extracellular matrix disassembly22269326
GO:0010718IDA-positive regulation of epithelial to mesenchymal transition17999987
GO:0010718NAS-positive regulation of epithelial to mesenchymal transition21319131
GO:0010742IC-macrophage derived foam cell differentiation15219857
GO:0010763IDA-positive regulation of fibroblast migration18555217
GO:0010800IDA-positive regulation of peptidyl-threonine phosphorylation18625725
GO:0010862IDA-positive regulation of pathway-restricted SMAD protein phosphorylation9389648
GO:0010936IDA-negative regulation of macrophage cytokine production20875417
GO:0014003IEA-oligodendrocyte development-
GO:0016049IEA-cell growth-
GO:0016202ISS-regulation of striated muscle tissue development-
GO:0016477IDA-cell migration25893292
GO:0017015IDA-regulation of transforming growth factor beta receptor signaling pathway15334054
GO:0019049IDA-evasion or tolerance of host defenses by virus15334054
GO:0021915ISS-neural tube development-
GO:0022408IDA-negative regulation of cell-cell adhesion18593713
GO:0030214IDA-hyaluronan catabolic process17324121
GO:0030279IEA-negative regulation of ossification-
GO:0030308IDA-negative regulation of cell growth15334054
GO:0030334TAS-regulation of cell migration19018011
GO:0030335IDA-positive regulation of cell migration19736306
GO:0030335IMP-positive regulation of cell migration26169693
GO:0030501IEP-positive regulation of bone mineralization17401695
GO:0030509IBA-BMP signaling pathway-
GO:0030512TAS-negative regulation of transforming growth factor beta receptor signaling pathway-
GO:0031065IEA-positive regulation of histone deacetylation-
GO:0031293IDA-membrane protein intracellular domain proteolysis25310401
GO:0031334IDA-positive regulation of protein complex assembly19366691
GO:0031536IEA-positive regulation of exit from mitosis-
GO:0031663IDA-lipopolysaccharide-mediated signaling pathway21147091
GO:0032270IDA-positive regulation of cellular protein metabolic process15219857
GO:0032355IDA-response to estradiol18039789
GO:0032570IDA-response to progesterone18039789
GO:0032667IEA-regulation of interleukin-23 production-
GO:0032700IEA-negative regulation of interleukin-17 production-
GO:0032740IDA-positive regulation of interleukin-17 production18453574
GO:0032801IDA-receptor catabolic process17878231
GO:0032930IDA-positive regulation of superoxide anion generation22073128
GO:0032943IEA-mononuclear cell proliferation-
GO:0032967IDA-positive regulation of collagen biosynthetic process19734317
GO:0032967IGI-positive regulation of collagen biosynthetic process22269326
GO:0032967IMP-positive regulation of collagen biosynthetic process11158066
GO:0033138IDA-positive regulation of peptidyl-serine phosphorylation18625725
GO:0033280IEA-response to vitamin D-
GO:0034616IEA-response to laminar fluid shear stress-
GO:0035066IEA-positive regulation of histone acetylation-
GO:0035307IDA-positive regulation of protein dephosphorylation14555988
GO:0035902IEA-response to immobilization stress-
GO:0042130IEA-negative regulation of T cell proliferation-
GO:0042306ISS-regulation of protein import into nucleus-
GO:0042307IDA-positive regulation of protein import into nucleus19366691
GO:0042482IEA-positive regulation of odontogenesis-
GO:0042493IEA-response to drug-
GO:0042552IEA-myelination-
GO:0042981IBA-regulation of apoptotic process-
GO:0043011IEA-myeloid dendritic cell differentiation-
GO:0043029IEA-T cell homeostasis-
GO:0043065IEA-positive regulation of apoptotic process-
GO:0043117IDA-positive regulation of vascular permeability21168935
GO:0043406IDA-positive regulation of MAP kinase activity18625725
GO:0043491IMP-protein kinase B signaling21147091
GO:0043536IDA-positive regulation of blood vessel endothelial cell migration18555217
GO:0043537IDA-negative regulation of blood vessel endothelial cell migration18555217
GO:0043552IDA-positive regulation of phosphatidylinositol 3-kinase activity18625725
GO:0043932IEP-ossification involved in bone remodeling17401695
GO:0045066IEA-regulatory T cell differentiation-
GO:0045216IDA-cell-cell junction organization18505915
GO:0045591IEA-positive regulation of regulatory T cell differentiation-
GO:0045596IEP-negative regulation of cell differentiation19357233
GO:0045599IDA-negative regulation of fat cell differentiation15040835
GO:0045662IDA-negative regulation of myoblast differentiation9770491
GO:0045786IDA-negative regulation of cell cycle11502704
GO:0045892IDA-negative regulation of transcription, DNA-templated15702480
GO:0045893IDA-positive regulation of transcription, DNA-templated9389648
GO:0045893ISS-positive regulation of transcription, DNA-templated-
GO:0045930IDA-negative regulation of mitotic cell cycle14555988
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter18832382
GO:0046732TAS-active induction of host immune response by virus-
GO:0048146IEA-positive regulation of fibroblast proliferation-
GO:0048298IDA-positive regulation of isotype switching to IgA isotypes14988498
GO:0048468IBA-cell development-
GO:0048535ISS-lymph node development-
GO:0048565IEA-digestive tract development-
GO:0048642IDA-negative regulation of skeletal muscle tissue development9770491
GO:0048839IEA-inner ear development-
GO:0050679IEA-positive regulation of epithelial cell proliferation-
GO:0050680IDA-negative regulation of epithelial cell proliferation9950587
GO:0050680IMP-negative regulation of epithelial cell proliferation16943770
GO:0050714IDA-positive regulation of protein secretion18505915
GO:0050731IDA-positive regulation of peptidyl-tyrosine phosphorylation21168935
GO:0050765IEA-negative regulation of phagocytosis-
GO:0050900TAS-leukocyte migration-
GO:0050921IDA-positive regulation of chemotaxis18555217
GO:0051092IEA-positive regulation of NF-kappaB transcription factor activity-
GO:0051098ISS-regulation of binding-
GO:0051101ISS-regulation of DNA binding-
GO:0051152IEA-positive regulation of smooth muscle cell differentiation-
GO:0051280IEA-negative regulation of release of sequestered calcium ion into cytosol-
GO:0051781IEA-positive regulation of cell division-
GO:0051897IDA-positive regulation of protein kinase B signaling18625725
GO:0055010ISS-ventricular cardiac muscle tissue morphogenesis-
GO:0060312IC-regulation of blood vessel remodeling22269326
GO:0060312NAS-regulation of blood vessel remodeling22269326
GO:0060325IEA-face morphogenesis-
GO:0060364IEA-frontal suture morphogenesis-
GO:0060389IDA-pathway-restricted SMAD protein phosphorylation11157754
GO:0060390IDA-regulation of SMAD protein import into nucleus25893292
GO:0060391IDA-positive regulation of SMAD protein import into nucleus9389648
GO:0060395IBA-SMAD protein signal transduction-
GO:0060744IEA-mammary gland branching involved in thelarche-
GO:0060751IEA-branch elongation involved in mammary gland duct branching-
GO:0060762IEA-regulation of branching involved in mammary gland duct morphogenesis-
GO:0060965IGI-negative regulation of gene silencing by miRNA22269326
GO:0061035IEA-regulation of cartilage development-
GO:0070306IEA-lens fiber cell differentiation-
GO:0070374IDA-positive regulation of ERK1 and ERK2 cascade25310401
GO:0070723IDA-response to cholesterol17878231
GO:0071158IEA-positive regulation of cell cycle arrest-
GO:0071260IEA-cellular response to mechanical stimulus-
GO:0071407IDA-cellular response to organic cyclic compound21147091
GO:0071479IEA-cellular response to ionizing radiation-
GO:0071549IEA-cellular response to dexamethasone stimulus-
GO:0071560IDA-cellular response to transforming growth factor beta stimulus19736306
GO:0071560IGI-cellular response to transforming growth factor beta stimulus22269326
GO:0071677IEA-positive regulation of mononuclear cell migration-
GO:0085029IDA-extracellular matrix assembly19734317
GO:0090190IEA-positive regulation of branching involved in ureteric bud morphogenesis-
GO:0097191IDA-extrinsic apoptotic signaling pathway15334054
GO:0097421IEA-liver regeneration-
GO:1900126IDA-negative regulation of hyaluronan biosynthetic process17324121
GO:1901203IC-positive regulation of extracellular matrix assembly22269326
GO:1901666IDA-positive regulation of NAD+ ADP-ribosyltransferase activity22073128
GO:1902893IMPNOTregulation of pri-miRNA transcription from RNA polymerase II promoter18548003
GO:1902895IDA-positive regulation of pri-miRNA transcription from RNA polymerase II promoter26311719
GO:1903077IDA-negative regulation of protein localization to plasma membrane21168935
GO:1903799IGI-negative regulation of production of miRNAs involved in gene silencing by miRNA22269326
GO:1903800IDA-positive regulation of production of miRNAs involved in gene silencing by miRNA18548003
GO:1903911IEA-positive regulation of receptor clustering-
GO:1905005ISSNOTregulation of epithelial to mesenchymal transition involved in endocardial cushion formation-
GO:1905313ISS-transforming growth factor beta receptor signaling pathway involved in heart development-
GO:1990314IEA-cellular response to insulin-like growth factor stimulus-
GO:1990402ISS-embryonic liver development-
GO:2000249IEA-regulation of actin cytoskeleton reorganization-
GO:2000679IDA-positive regulation of transcription regulatory region DNA binding22073128
GO:2000727IDA-positive regulation of cardiac muscle cell differentiation25163461
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TGFB1ACVRL110660910716993 Affinity Capture-Western
TGFB1ACVRL111289810716993 Affinity Capture-Western
TGFB1BGN1071028093006 Reconstituted Complex
TGFB1BGN1128988093006 Reconstituted Complex
TGFB1COL2A110767710085302 Reconstituted Complex
TGFB1COL2A111289810085302 Reconstituted Complex
TGFB1DCN1080027798269 8093006 9675033 Reconstituted Complex
TGFB1DCN1128987798269 8093006 9675033 Reconstituted Complex
TGFB1FCN11128987686157 Co-purification
TGFB1FCN11085137686157 Co-purification
TGFB1FKBP1A10857011960000 Two-hybrid
TGFB1FKBP1A11289811960000 Two-hybrid
TGFB1FMOD1086188093006 Reconstituted Complex
TGFB1FMOD1128988093006 Reconstituted Complex
TGFB1FNTA1086258599089 Two-hybrid
TGFB1FNTA1128988599089 Two-hybrid
TGFB1LAMB111010620936779 Two-hybrid
TGFB1LAMB111289820936779 Two-hybrid
TGFB1LTBP111023010930463 Affinity Capture-Western; Reconstituted Complex
TGFB1LTBP111289810930463 Affinity Capture-Western; Reconstituted Complex
TGFB1SMAD211026215009097 Co-localization
TGFB1SMAD211289815009097 Co-localization
TGFB1SMAD311026315009097 Co-localization
TGFB1SMAD311289815009097 Co-localization
TGFB1MMP211045710652271 Biochemical Activity
TGFB1MMP211289810652271 Biochemical Activity
TGFB1MMP911046110652271 Biochemical Activity
TGFB1MMP911289810652271 Biochemical Activity
TGFB1PZP1117967513640 Reconstituted Complex
TGFB1PZP1128987513640 Reconstituted Complex
THBS1TGFB11129151550960 Co-purification
THBS1TGFB11128981550960 Co-purification
TGFBR3TGFB11129078106553 Affinity Capture-Western
TGFBR3TGFB11128988106553 Affinity Capture-Western
TGFBR1TGFB11129048235612 10716993 Affinity Capture-Western
TGFBR1TGFB11128988235612 10716993 Affinity Capture-Western
EIF3ITGFB11142179813058 Affinity Capture-Western
EIF3ITGFB11128989813058 Affinity Capture-Western
SNIP1TGFB112286410887155 Affinity Capture-Western
SNIP1TGFB111289810887155 Affinity Capture-Western
TGFBR2TGFB111290611157754 Affinity Capture-Western
TGFBR2TGFB111289811157754 Affinity Capture-Western
YWHAETGFB111336311172812 Affinity Capture-Western; Reconstituted Complex
YWHAETGFB111289811172812 Affinity Capture-Western; Reconstituted Complex
TGFBRAP1TGFB111479211278302 Affinity Capture-Western
TGFBRAP1TGFB111289811278302 Affinity Capture-Western
TGFB2TGFB111289811483955 Two-hybrid
TGFB2TGFB111290011483955 Two-hybrid
VTNTGFB111328711796824 Reconstituted Complex
VTNTGFB111289811796824 Reconstituted Complex
VASNTGFB112540615247411 Reconstituted Complex
VASNTGFB111289815247411 Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
TGFB1R25P, rs1800468, rs1800469, rs1800472, rs1982073, rs9282871 Gene overview in AlzGene
Gene Symbol Poly Names Gene overview in PDGene
TGFB1rs2241715 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:98725
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030618-1'