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

    Gene ID: 7046, updated on 1-Mar-2024

    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; AllianceGenome:HGNC:11772
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TGFBR1 in Genome Data Viewer
    Location:
    9q22.33
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (99103647..99154192)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (111275348..111325904)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101867395..101916474)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene adipocyte associated pyruvate carboxylase interacting lncRNA Neighboring gene CRISPRi-validated cis-regulatory element chr9.1708 Neighboring gene Sharpr-MPRA regulatory region 4619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101724037-101724537 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:101725038-101725622 Neighboring gene collagen type XV alpha 1 chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101733335-101733912 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101733913-101734490 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101760575-101761331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101761332-101762087 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101834020-101834520 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101834521-101835021 Neighboring gene CRISPRi-validated cis-regulatory element chr9.1735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28699 Neighboring gene RNA, 5S ribosomal pseudogene 290 Neighboring gene Sharpr-MPRA regulatory region 12902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101932965-101933747 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103896 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101941126-101941626 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101941627-101942127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28700 Neighboring gene uncharacterized LOC105376174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28701 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What'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 2024-02-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2024-02-13)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables I-SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables SMAD binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables SMAD binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables SMAD binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables activin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables activin receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to growth factor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to transforming growth factor beta binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables 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 
    enables transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta receptor activity IC
    Inferred by Curator
    more info
    PubMed 
    enables transforming growth factor beta receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to transforming growth factor beta receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transforming growth factor beta receptor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables transforming growth factor beta receptor activity, type I IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transforming growth factor beta receptor activity, type I IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transmembrane receptor protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type II transforming growth factor beta receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables type II transforming growth factor beta receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in activin receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in activin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in angiogenesis involved in coronary vascular morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterior/posterior pattern specification ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blastocyst development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to growth factor stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to transforming growth factor beta stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in collagen fibril organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in coronary artery morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic cranial skeleton morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endothelial cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in endothelial cell migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in epicardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in epithelial to mesenchymal transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in extracellular structure organization TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in filopodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in germ cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in heart development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in heart development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in in utero embryonic development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in kidney development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lens development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mesenchymal cell differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in myofibroblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of negative regulation of cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of endothelial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of extrinsic apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron fate commitment ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in parathyroid gland development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in peptidyl-serine phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in pharyngeal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of SMAD protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell growth IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of endothelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of positive regulation of extracellular matrix assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of filopodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of mesenchymal stem cell proliferation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of tight junction disassembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vasculature development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in proepicardium development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cardiac muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cell cycle TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of epithelial to mesenchymal transition ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to cholesterol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in roof of mouth development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal system development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skeletal system morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in thymus development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in transforming growth factor beta receptor signaling pathway IC
    Inferred by Curator
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in transforming growth factor beta receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular compact myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular septum morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ventricular trabecula myocardium morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in wound healing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of activin receptor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane raft IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    part_of receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transforming growth factor beta ligand-receptor complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    part_of transforming growth factor beta ligand-receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    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_001394345.1
    NP_001394346.1
    NP_001394347.1
    NP_001394348.1
    NP_001394349.1
    NP_001394351.1
    NP_001394352.1
    NP_001394353.1
    NP_001394354.1
    NP_001394355.1
    NP_001394356.1
    NP_001394357.1
    NP_001394358.1
    NP_001394359.1
    NP_001394361.1
    NP_001394362.1
    NP_001394363.1
    NP_001394364.1
    NP_001394365.1
    NP_001394366.1
    NP_001394367.1
    NP_004603.1
    XP_011517250.1
    XP_054219631.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      4984..54063
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001130916.3NP_001124388.1  TGF-beta receptor type-1 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001124388.1

      Status: REVIEWED

      Source sequence(s)
      AJ619019, BC071181
      Consensus CDS
      CCDS47998.1
      UniProtKB/TrEMBL
      F8VXZ5
      Related
      ENSP00000364129.2, ENST00000374990.6
      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_001306210.2NP_001293139.1  TGF-beta receptor type-1 isoform 3 precursor

      See identical proteins and their annotated locations for NP_001293139.1

      Status: REVIEWED

      Source sequence(s)
      AJ619019, AK302059
      Consensus CDS
      CCDS78413.1
      UniProtKB/TrEMBL
      B4DXN7
      Related
      ENSP00000447297.1, ENST00000552516.5
      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_001407416.1NP_001394345.1  TGF-beta receptor type-1 isoform 4 precursor

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DXN7
    4. NM_001407417.1NP_001394346.1  TGF-beta receptor type-1 isoform 5 precursor

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DXN7
    5. NM_001407418.1NP_001394347.1  TGF-beta receptor type-1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      A0A8V8TMH4, F8VXZ5, F8W0K6
    6. NM_001407419.1NP_001394348.1  TGF-beta receptor type-1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      A0A8V8TMH4, F8VXZ5, F8W0K6
      Related
      ENSP00000514048.1, ENST00000698941.1
    7. NM_001407420.1NP_001394349.1  TGF-beta receptor type-1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      A0A8V8TMH4, F8VXZ5, F8W0K6
    8. NM_001407422.1NP_001394351.1  TGF-beta receptor type-1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      A0A8V8TMH4, F8VXZ5, F8W0K6
    9. NM_001407423.1NP_001394352.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    10. NM_001407424.1NP_001394353.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      Consensus CDS
      CCDS94447.1
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
      Related
      ENSP00000449934.2, ENST00000547314.6
    11. NM_001407425.1NP_001394354.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    12. NM_001407426.1NP_001394355.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    13. NM_001407427.1NP_001394356.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    14. NM_001407428.1NP_001394357.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    15. NM_001407429.1NP_001394358.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    16. NM_001407430.1NP_001394359.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    17. NM_001407432.1NP_001394361.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    18. NM_001407433.1NP_001394362.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
    19. NM_001407434.1NP_001394363.1  TGF-beta receptor type-1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DY26, F8VVC4, F8VXZ5
      Related
      ENSP00000450052.1, ENST00000550253.1
    20. NM_001407435.1NP_001394364.1  TGF-beta receptor type-1 isoform 8 precursor

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      B4DXN7
    21. NM_001407436.1NP_001394365.1  TGF-beta receptor type-1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL162427
    22. NM_001407437.1NP_001394366.1  TGF-beta receptor type-1 isoform 11 precursor

      Status: REVIEWED

      Source sequence(s)
      AL162427
    23. NM_001407438.1NP_001394367.1  TGF-beta receptor type-1 isoform 10 precursor

      Status: REVIEWED

      Source sequence(s)
      AL162427
      UniProtKB/TrEMBL
      F8VXZ5
    24. NM_004612.4NP_004603.1  TGF-beta receptor type-1 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004603.1

      Status: REVIEWED

      Source sequence(s)
      AJ619019, AK302059, L11695
      Consensus CDS
      CCDS6738.1
      UniProtKB/Swiss-Prot
      P36897, Q6IR47, Q706C0, Q706C1
      UniProtKB/TrEMBL
      B4DXN7, Q5T7S2
      Related
      ENSP00000364133.4, ENST00000374994.9
      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

    RNA

    1. NR_176360.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL162427
    2. NR_176361.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL162427
    3. NR_176362.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL162427
    4. NR_176363.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL162427

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      99103647..99154192
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011518948.3XP_011517250.1  TGF-beta receptor type-1 isoform X1

      See identical proteins and their annotated locations for XP_011517250.1

      UniProtKB/TrEMBL
      A0A8V8TMH4, F8VXZ5, F8W0K6
      Conserved Domains (3) 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:641
      Activin_recp; Activin types I and II receptor domain
      pfam08515
      Location:111138
      TGF_beta_GS; Transforming growth factor beta type I GS-motif

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      111275348..111325904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054363656.1XP_054219631.1  TGF-beta receptor type-1 isoform X1

      UniProtKB/TrEMBL
      A0A8V8TMH4, F8VXZ5, F8W0K6