Gene Gene information from NCBI Gene database.
Entrez ID 7040
Gene name Transforming growth factor beta 1
Gene symbol TGFB1
Synonyms (NCBI Gene)
CEDDPD1IBDIMDELAPTGF-beta1TGFBTGFbeta
Chromosome 19
Chromosome location 19q13.2
Summary 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
SNPs SNP information provided by dbSNP.
17
SNP ID Visualize variation Clinical significance Consequence
rs1800470 G>A,C Risk-factor, benign Coding sequence variant, missense variant
rs72480429 G>A,C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs104894719 A>G Pathogenic Coding sequence variant, missense variant
rs104894720 C>T Pathogenic Coding sequence variant, missense variant
rs104894721 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
71
miRTarBase ID miRNA Experiments Reference
MIRT005918 hsa-miR-24-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 20945401
MIRT006059 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT006114 hsa-miR-144-3p Luciferase reporter assayqRT-PCR 21991303
MIRT006059 hsa-miR-29b-3p ELISAGFP reporter assayqRT-PCR 21273536
MIRT006114 hsa-miR-144-3p Luciferase reporter assayqRT-PCR 21991303
Transcription factors Transcription factors information provided by TRRUST V2 database.
14
Transcription factor Regulation Reference
ASH1L Unknown 22488473
FOSB Unknown 10843986
FOSL2 Unknown 10843986
JUND Unknown 10843986
NFKB1 Unknown 16365456
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
327
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000902 Process Cell morphogenesis IEA
GO:0001570 Process Vasculogenesis IEA
GO:0001570 Process Vasculogenesis ISS
GO:0001657 Process Ureteric bud development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
190180 11766 ENSG00000105329
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01137
Protein name Transforming growth factor beta-1 proprotein [Cleaved into: Latency-associated peptide (LAP); Transforming growth factor beta-1 (TGF-beta-1)]
Protein function 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. {ECO:00002
PDB 1KLA , 1KLC , 1KLD , 3KFD , 4KV5 , 5FFO , 5VQP , 6OM2 , 6P7J , 7Y1R , 7Y1T , 8UDZ , 8VSC , 8VSD , 9FDY , 9FKP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00688 TGFb_propeptide 29 261 TGF-beta propeptide Family
PF00019 TGF_beta 292 389 Transforming growth factor beta like domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in bone (PubMed:11746498, PubMed:17827158). Abundantly expressed in articular cartilage and chondrocytes and is increased in osteoarthritis (OA) (PubMed:11746498, PubMed:17827158). Colocalizes with ASPN in chondrocytes
Sequence
Sequence length 390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Cytokine-cytokine receptor interaction
FoxO signaling pathway
Cell cycle
Efferocytosis
Cellular senescence
TGF-beta signaling pathway
Osteoclast differentiation
Hippo signaling pathway
Th17 cell differentiation
Intestinal immune network for IgA production
Relaxin signaling pathway
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Leishmaniasis
Chagas disease
Malaria
Toxoplasmosis
Amoebiasis
Tuberculosis
Hepatitis B
Human T-cell leukemia virus 1 infection
Pathways in cancer
Proteoglycans in cancer
Colorectal cancer
Renal cell carcinoma
Pancreatic cancer
Chronic myeloid leukemia
Hepatocellular carcinoma
Gastric cancer
Inflammatory bowel disease
Rheumatoid arthritis
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Diabetic cardiomyopathy
  Platelet degranulation
Influenza Virus Induced Apoptosis
Cell surface interactions at the vascular wall
Molecules associated with elastic fibres
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling activates SMADs
TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
Syndecan interactions
SMAD2/3 Phosphorylation Motif Mutants in Cancer
TGFBR2 MSI Frameshift Mutants in Cancer
TGFBR2 Kinase Domain Mutants in Cancer
TGFBR1 KD Mutants in Cancer
TGFBR1 LBD Mutants in Cancer
Interleukin-4 and Interleukin-13 signaling
RUNX3 regulates CDKN1A transcription
Regulation of RUNX3 expression and activity
RUNX3 regulates p14-ARF
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
70
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CAMURATI-ENGELMANN DISEASE 1 Likely pathogenic; Pathogenic rs104894720 RCV005867746
Diaphyseal dysplasia Pathogenic; Likely pathogenic rs104894719, rs104894720, rs104894721, rs111033611, rs104894722, rs1599893542 RCV000013354
RCV000013355
RCV000013357
RCV000013358
RCV000013359
RCV000990219
Encephalopathy Likely pathogenic rs1555755308, rs1555755242, rs1336387628 RCV000584758
RCV000584755
RCV000584756
IL10-related early-onset inflammatory bowel disease Likely pathogenic rs1555755308, rs1555755242, rs1336387628 RCV000584758
RCV000584755
RCV000584756
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs6508976, rs11466318 RCV005921503
RCV005909237
Breast cancer, invasive, susceptibility to Benign rs1800470 RCV000013361
Cervical cancer Benign rs11466318 RCV005909238
Cystic fibrosis Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs867906741, rs1800470, rs148552731, rs765327656, rs8179181, rs11466318 RCV002503603
RCV005016986
RCV005016751
RCV005017126
RCV002479963
RCV000013360
RCV003224536
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 37207705
AA amyloidosis Associate 32861330
Abortion Threatened Associate 32775426
Accidental Injuries Associate 16367920
Achondrogenesis type 2 Stimulate 32790806
Achondrogenesis type 2 Associate 39367925
Acidemia isovaleric Associate 25510775
Acidosis Associate 23318822
Acidosis Inhibit 36012235
Acne Vulgaris Associate 24927181, 25153527