Format

Send to:

Choose Destination
    • Showing Current items.

    TGFBR1 transforming growth factor beta receptor 1 [ Homo sapiens (human) ]

    Gene ID: 7046, updated on 4-Nov-2018

    Summary

    Official Symbol
    TGFBR1provided by HGNC
    Official Full Name
    transforming growth factor beta receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:11772
    See related
    Ensembl:ENSG00000106799 MIM:190181; Vega:OTTHUMG00000020353
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AAT5; ALK5; ESS1; LDS1; MSSE; SKR4; TBRI; ALK-5; LDS1A; LDS2A; TBR-i; TGFR-1; ACVRLK4; tbetaR-I
    Summary
    The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 13.6), gall bladder (RPKM 8.0) and 24 other tissues See more
    Orthologs

    Genomic context

    See TGFBR1 in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (99104038..99154192)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101867412..101916474)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene NME/NM23 nucleoside diphosphate kinase 2 pseudogene Neighboring gene collagen type XV alpha 1 chain Neighboring gene RNA, 5S ribosomal pseudogene 290 Neighboring gene uncharacterized LOC105376174 Neighboring gene RNA, 7SL, cytoplasmic 794, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TGFBR1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-04-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2012-04-25)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    Genetics of callous-unemotional behavior in children.
    NHGRI GWA Catalog
    Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women.
    NHGRI GWA Catalog
    GWAS of dental caries patterns in the permanent dentition.
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu Antibodies against TGF-beta or a TGF-beta receptor inhibitor SB431452 reverse HIV-1 Vpu-mediated profibrogenic activation of LX2 cells, suggesting that TGF-beta mediates these effects PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, organism-specific biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • AGE-RAGE signaling pathway in diabetic complications, conserved biosystem (from KEGG)
      AGE-RAGE signaling pathway in diabetic complications, conserved biosystemAdvanced glycation end products (AGEs) are a complex group of compounds produced through the non-enzymatic glycation and oxidation of proteins, lipids and nucleic acids, primarily due to aging and un...
    • ALK1 signaling events, organism-specific biosystem (from Pathway Interaction Database)
      ALK1 signaling events, organism-specific biosystem
      ALK1 signaling events
    • Adherens junction, organism-specific biosystem (from KEGG)
      Adherens junction, organism-specific biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Adherens junction, conserved biosystem (from KEGG)
      Adherens junction, conserved biosystemCell-cell adherens junctions (AJs), the most common type of intercellular adhesions, are important for maintaining tissue architecture and cell polarity and can limit cell movement and proliferation....
    • Apelin signaling pathway, organism-specific biosystem (from KEGG)
      Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
    • Canonical and Non-Canonical TGF-B signaling, organism-specific biosystem (from WikiPathways)
      Canonical and Non-Canonical TGF-B signaling, organism-specific biosystemThis pathway is modeled after Figure 9 in the article "Gremlin utilizes canonical and non-canonical TGFB signaling to induce lysyl oxidase (LOX) genes in human trabecular meshwork cells". Gremlin is ...
    • Cardiac Hypertrophic Response, organism-specific biosystem (from WikiPathways)
      Cardiac Hypertrophic Response, organism-specific biosystemIntegrated schematic of the more extensively characterized intracellular signal-transduction pathways that coordinate the cardiac hypertrophic response. During development and in response to physiolo...
    • Chagas disease (American trypanosomiasis), organism-specific biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), organism-specific biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chagas disease (American trypanosomiasis), conserved biosystem (from KEGG)
      Chagas disease (American trypanosomiasis), conserved biosystemTrypanosoma cruzi is an intracellular protozoan parasite that causes Chagas disease. The parasite life cycle involves hematophagous reduviid bugs as vectors. Once parasites enter the host body, they ...
    • Chronic myeloid leukemia, organism-specific biosystem (from KEGG)
      Chronic myeloid leukemia, organism-specific biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • Chronic myeloid leukemia, conserved biosystem (from KEGG)
      Chronic myeloid leukemia, conserved biosystemChronic myeloid leukemia (CML) is a clonal myeloproliferative disorder of a pluripotent stem cell. The natural history of CML has a triphasic clinical course comprising of an initial chronic phase (C...
    • Colorectal cancer, organism-specific biosystem (from KEGG)
      Colorectal cancer, organism-specific biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Colorectal cancer, conserved biosystem (from KEGG)
      Colorectal cancer, conserved biosystemColorectal cancer (CRC) is the second largest cause of cancer-related deaths in Western countries. CRC arises from the colorectal epithelium as a result of the accumulation of genetic alterations in ...
    • Cytokine-cytokine receptor interaction, organism-specific biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, organism-specific biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Cytokine-cytokine receptor interaction, conserved biosystem (from KEGG)
      Cytokine-cytokine receptor interaction, conserved biosystemCytokines are soluble extracellular proteins or glycoproteins that are crucial intercellular regulators and mobilizers of cells engaged in innate as well as adaptive inflammatory host defenses, cell ...
    • Deubiquitination, organism-specific biosystem (from REACTOME)
      Deubiquitination, organism-specific biosystemUbiquitination, the modification of proteins by the covalent attachment of ubiquitin (Ub), is a key regulatory mechanism for many many cellular processes, including protein degradation by the 26S pro...
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Diseases of signal transduction, organism-specific biosystem (from REACTOME)
      Diseases of signal transduction, organism-specific biosystemSignaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecula...
    • Downregulation of TGF-beta receptor signaling, organism-specific biosystem (from REACTOME)
      Downregulation of TGF-beta receptor signaling, organism-specific biosystemTGF-beta receptor signaling is downregulated by proteasome and lysosome-mediated degradation of ubiquitinated TGFBR1, SMAD2 and SMAD3, as well as by dephosphorylation of TGFBR1, SMAD2 and SMAD3. In t...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystem (from WikiPathways)
      Extracellular vesicle-mediated signaling in recipient cells, organism-specific biosystemProtein sorting during formation of multivesicular bodies results in packaging of key molecules in exosomes. Exosomes bound-signaling ligands once released from host cells interacts with the receptor...
    • FoxO signaling pathway, organism-specific biosystem (from KEGG)
      FoxO signaling pathway, organism-specific biosystemThe forkhead box O (FOXO) family of transcription factors regulates the expression of genes in cellular physiological events including apoptosis, cell-cycle control, glucose metabolism, oxidative str...
    • Glypican 1 network, organism-specific biosystem (from Pathway Interaction Database)
      Glypican 1 network, organism-specific biosystem
      Glypican 1 network
    • HTLV-I infection, organism-specific biosystem (from KEGG)
      HTLV-I infection, organism-specific biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • HTLV-I infection, conserved biosystem (from KEGG)
      HTLV-I infection, conserved biosystemHuman T-lymphotropic virus type 1 (HTLV-1) is a pathogenic retrovirus that is associated with adult T-cell leukemia/lymphoma (ATL). It is also strongly implicated in non-neoplastic chronic inflammato...
    • Hepatitis B, organism-specific biosystem (from KEGG)
      Hepatitis B, organism-specific biosystemHepatitis B virus (HBV) is an enveloped virus and contains a partially double-stranded relaxed circular DNA (RC-DNA) genome. After entry into hepatocytes, HBV RC-DNA is transported to the nucleus and...
    • Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystem (from WikiPathways)
      Hepatitis C and Hepatocellular Carcinoma, organism-specific biosystemPathway model based on hub miRNAs and their putative targets from network analysis. - From a set of differentially expressed genes in both chronic HCV (hepatitis C virus) and HCC (hepatocellular carc...
    • Hippo signaling pathway, organism-specific biosystem (from KEGG)
      Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hippo signaling pathway, conserved biosystem (from KEGG)
      Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
    • Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystem (from WikiPathways)
      Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystemThe pathways hypothesized to be involved in cardiovascular diseases begin with LTBPs and Fibrillins activating a TGFBR complex. The complex can begin the canonical TGFB pathway involving SMAD protei...
    • Integrated Breast Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Breast Cancer Pathway, organism-specific biosystemThis pathway incorporates the most important proteins for Breast Cancer. The Rp score from the Connectivity-Maps (C-Maps) webserver was used to determine the rank of the most important proteins in Br...
    • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
      Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
    • Loss of Function of SMAD2/3 in Cancer, organism-specific biosystem (from REACTOME)
      Loss of Function of SMAD2/3 in Cancer, organism-specific biosystemLoss-of-function of SMAD2 and SMAD3 in cancer occurs less frequently than the loss of SMAD4 function and was studied in most detail in colorectal cancer (Fleming et al. 2013). Similarly to SMAD4, cod...
    • Loss of Function of TGFBR1 in Cancer, organism-specific biosystem (from REACTOME)
      Loss of Function of TGFBR1 in Cancer, organism-specific biosystemTGF-beta receptor 1 (TGFBR1) loss-of-function is a less frequent mechanism for inactivation of TGF-beta signaling in cancer compared to SMAD4 and TGFBR2 inactivation. Genomic deletion of TGFBR1 locus...
    • Loss of Function of TGFBR2 in Cancer, organism-specific biosystem (from REACTOME)
      Loss of Function of TGFBR2 in Cancer, organism-specific biosystemLoss-of-function of transforming growth factor-beta receptor II (TGFBR2) is most prevalent in colorectal cancer. Over 60% of colorectal cancers with microsatellite instability (MSI) harbor inactivati...
    • MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
      MAPK Signaling Pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, organism-specific biosystem (from KEGG)
      MAPK signaling pathway, organism-specific biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • MAPK signaling pathway, conserved biosystem (from KEGG)
      MAPK signaling pathway, conserved biosystemThe mitogen-activated protein kinase (MAPK) cascade is a highly conserved module that is involved in various cellular functions, including cell proliferation, differentiation and migration. Mammals e...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Pancreatic cancer, organism-specific biosystem (from KEGG)
      Pancreatic cancer, organism-specific biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pancreatic cancer, conserved biosystem (from KEGG)
      Pancreatic cancer, conserved biosystemInfiltrating ductal adenocarcinoma is the most common malignancy of the pancreas. When most investigators use the term 'pancreatic cancer' they are referring to pancreatic ductal adenocarcinoma (PDA)...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Post-translational protein modification, organism-specific biosystem (from REACTOME)
      Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
    • SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      SMAD2/3 MH2 Domain Mutants in Cancer, organism-specific biosystemMutations in the MH2 domain of SMAD2 and SMAD3 affect their ability to form heterotrimers with SMAD4, thereby impairing TGF-beta signaling (Fleming et al. 2013).The SMAD2 and SMAD3 MH2 domain residue...
    • SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystem (from REACTOME)
      SMAD2/3 Phosphorylation Motif Mutants in Cancer, organism-specific biosystemThe conserved phosphorylation motif Ser-Ser-X-Ser at the C-terminus of SMAD2 and SMAD3 is subject to disruptive mutations in cancer. The last two serine residues in this conserved motif, namely Ser46...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by TGF-beta Receptor Complex, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex, organism-specific biosystemThe TGF-beta/BMP pathway incorporates several signaling pathways that share most, but not all, components of a central signal transduction engine. The general signaling scheme is rather simple: upon ...
    • Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystem (from REACTOME)
      Signaling by TGF-beta Receptor Complex in Cancer, organism-specific biosystemSignaling by the TGF-beta receptor complex is tumor suppressive, as it inhibits cell growth and promotes cell differentiation and apoptosis (Shipley et al. 1986, Hannon et al. 1994, Datto et al. 1995...
    • TGF-beta Receptor Signaling, organism-specific biosystem (from WikiPathways)
      TGF-beta Receptor Signaling, organism-specific biosystemThe Transforming growth factor beta (TGFβ) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiat...
    • TGF-beta Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TGF-beta Signaling Pathway, organism-specific biosystemThe signal transduction mechanisms underlying the pathophysiological activities of transforming growth factor-? (TGF-?) have been extensively studied since its discovery nearly 30 years ago. TGF-? li...
    • TGF-beta receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      TGF-beta receptor signaling, organism-specific biosystem
      TGF-beta receptor signaling
    • TGF-beta receptor signaling activates SMADs, organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling activates SMADs, organism-specific biosystemBinding of transforming growth factor beta 1 (TGF beta 1, i.e. TGFB1) to TGF beta receptor type 2 (TGFBR2) activates TGF beta receptor signaling cascade. TGFB1 is posttranslationally processed by fur...
    • TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystem (from REACTOME)
      TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition), organism-specific biosystemIn normal cells and in the early stages of cancer development, signaling by TGF-beta plays a tumor suppressive role, as SMAD2/3:SMAD4-mediated transcription inhibits cell division by downregulating M...
    • TGF-beta signaling, organism-specific biosystem (from KEGG)
      TGF-beta signaling, organism-specific biosystemFunctional set; Cellular processes; Cell signaling
    • TGF-beta signaling, conserved biosystem (from KEGG)
      TGF-beta signaling, conserved biosystemFunctional set; Cellular processes; Cell signaling
    • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
      TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGF-beta signaling pathway, conserved biosystem (from KEGG)
      TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
    • TGFBR1 KD Mutants in Cancer, organism-specific biosystem (from REACTOME)
      TGFBR1 KD Mutants in Cancer, organism-specific biosystemMutations in the kinase domain (KD) of TGF-beta receptor 1 (TGFBR1) have been found in Ferguson-Smith tumor i.e. multiple self-healing squamous epithelioma - MSSE (Goudie et al. 2011), breast cancer ...
    • TGFBR1 LBD Mutants in Cancer, organism-specific biosystem (from REACTOME)
      TGFBR1 LBD Mutants in Cancer, organism-specific biosystemMutations in the ligand-binding domain (LBD) of TGF-beta receptor 1 (TGFBR1) have been reported as germline mutations in Ferguson-Smith tumor (multiple self-healing squamous epithelioma - MSSE), an a...
    • TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystem (from REACTOME)
      TGFBR2 Kinase Domain Mutants in Cancer, organism-specific biosystemMissense mutations in the kinase domain (KD) of TGF-beta receptor II (TGFBR2) are found in ~20% of microsatellite stable (MSS) colon cancers and make affected tumors resistant to TGF-beta (TGFB1)-med...
    • Th17 cell differentiation, organism-specific biosystem (from KEGG)
      Th17 cell differentiation, organism-specific biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • Th17 cell differentiation, conserved biosystem (from KEGG)
      Th17 cell differentiation, conserved biosystemInterleukin (IL)-17-producing helper T (Th17) cells serve as a subset of CD4+ T cells involved in epithelial cell- and neutrophil mediated immune responses against extracellular microbes and in the p...
    • UCH proteinases, organism-specific biosystem (from REACTOME)
      UCH proteinases, organism-specific biosystemDUBs of the Ub C-terminal Hydrolase (UCH) family are thiol proteases that have an N-terminal catalytic domain sometimes followed by C-terminal extensions that mediate protein-protein interactions. Hu...
    • Ub-specific processing proteases, organism-specific biosystem (from REACTOME)
      Ub-specific processing proteases, organism-specific biosystemUb-specific processing proteases (USPs) are the largest of the DUB families with more than 50 members in humans. The USP catalytic domain varies considerably in size and consists of six conserved mo...
    • p38 MAPK Signaling Pathway, organism-specific biosystem (from WikiPathways)
      p38 MAPK Signaling Pathway, organism-specific biosystemp38 MAPKs are members of the MAPK family that are activated by a variety of environmental stresses and inflammatory cytokines. Stress signals are delivered to this cascade by members of small GTPases...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    contributes_to growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to transforming growth factor beta binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transforming growth factor beta receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transforming growth factor beta-activated receptor activity IC
    Inferred by Curator
    more info
    PubMed 
    transforming growth factor beta-activated receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta-activated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    contributes_to transforming growth factor beta-activated receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    type II transforming growth factor beta receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    type II transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    activation of MAPKK activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    activin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    angiogenesis involved in coronary vascular morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterior/posterior pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blastocyst development IEA
    Inferred from Electronic Annotation
    more info
     
    cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell cycle arrest TAS
    Traceable Author Statement
    more info
    PubMed 
    cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    coronary artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endothelial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    epicardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular structure organization TAS
    Traceable Author Statement
    more info
    PubMed 
    germ cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    mesenchymal cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    neuron fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    parathyroid gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pattern specification process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peptidyl-threonine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pharyngeal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of cellular component movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of endothelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of filopodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of pathway-restricted SMAD protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of protein kinase B signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of stress fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of tight junction disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    NOT proepicardium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein deubiquitination TAS
    Traceable Author Statement
    more info
     
    protein phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to cholesterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    roof of mouth development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skeletal system morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    thymus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    ventricular compact myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ventricular trabecula myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    wound healing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endosome IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    TGF-beta receptor type-1
    Names
    activin A receptor type II-like kinase, 53kDa
    activin A receptor type II-like protein kinase of 53kD
    activin receptor-like kinase 5
    mutant transforming growth factor beta receptor I
    serine/threonine-protein kinase receptor R4
    transforming growth factor beta receptor I
    transforming growth factor-beta receptor type I
    NP_001124388.1
    NP_001293139.1
    NP_004603.1
    XP_011517250.1
    XP_011517251.1
    XP_011517252.1
    XP_016870552.1
    XP_024303426.1

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007461.1 RefSeqGene

      Range
      4960..54063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130916.2NP_001124388.1  TGF-beta receptor type-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001124388.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 3. The encoded isoform (2) is shorter than isoform 3.
      Source sequence(s)
      AJ619019, AK302059, BC071181
      Consensus CDS
      CCDS47998.1
      UniProtKB/Swiss-Prot
      P36897
      UniProtKB/TrEMBL
      B4DXN7
      Related
      ENSP00000364129.2, OTTHUMP00000242324, ENST00000374990.6, OTTHUMT00000406313
      Conserved Domains (3) summary
      cd14143
      Location:132419
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:35110
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:114126
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    2. NM_001306210.1NP_001293139.1  TGF-beta receptor type-1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001293139.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AJ619019, AK302059
      Consensus CDS
      CCDS78413.1
      UniProtKB/Swiss-Prot
      P36897
      UniProtKB/TrEMBL
      B4DXN7
      Related
      ENSP00000447297.1, OTTHUMP00000242326, ENST00000552516.5, OTTHUMT00000406315
      Conserved Domains (4) summary
      cd14143
      Location:213500
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:35114
      Activin_recp; Activin types I and II receptor domain
      pfam07714
      Location:209496
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:180207
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    3. NM_004612.3NP_004603.1  TGF-beta receptor type-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004603.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. The encoded isoform (1) is shorter than isoform 3.
      Source sequence(s)
      AJ619019, AK302059, L11695
      Consensus CDS
      CCDS6738.1
      UniProtKB/Swiss-Prot
      P36897
      UniProtKB/TrEMBL
      B4DXN7, Q5T7S2
      Related
      ENSP00000364133.4, OTTHUMP00000021783, ENST00000374994.8, OTTHUMT00000053390
      Conserved Domains (4) summary
      cd14143
      Location:209496
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:35114
      Activin_recp; Activin types I and II receptor domain
      pfam07714
      Location:205492
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:176203
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p12 Primary Assembly

      Range
      99104038..99154192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518949.2XP_011517251.1  TGF-beta receptor type-1 isoform X2

      See identical proteins and their annotated locations for XP_011517251.1

      UniProtKB/TrEMBL
      B4DY26
      Related
      OTTHUMP00000242329, OTTHUMT00000406319
      Conserved Domains (3) summary
      cd14143
      Location:140427
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:141
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:107134
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    2. XM_017015063.1XP_016870552.1  TGF-beta receptor type-1 isoform X1

      Conserved Domains (4) summary
      cd14143
      Location:144431
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:145
      Activin_recp; Activin types I and II receptor domain
      pfam07714
      Location:140427
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:111138
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    3. XM_011518950.2XP_011517252.1  TGF-beta receptor type-1 isoform X3

      Conserved Domains (4) summary
      cd14143
      Location:63350
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:145
      Activin_recp; Activin types I and II receptor domain
      pfam07714
      Location:59346
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:4557
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    4. XM_024447658.1XP_024303426.1  TGF-beta receptor type-1 isoform X2

      Related
      ENSP00000450052.1, ENST00000550253.1
      Conserved Domains (3) summary
      cd14143
      Location:140427
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:141
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:107134
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    5. XM_011518948.2XP_011517250.1  TGF-beta receptor type-1 isoform X1

      See identical proteins and their annotated locations for XP_011517250.1

      Conserved Domains (4) summary
      cd14143
      Location:144431
      STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
      pfam01064
      Location:145
      Activin_recp; Activin types I and II receptor domain
      pfam07714
      Location:140427
      Pkinase_Tyr; Protein tyrosine kinase
      pfam08515
      Location:111138
      TGF_beta_GS; Transforming growth factor beta type I GS-motif
    Support Center