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FLASH GENE
Symbol TGFBR1 contributors: mct/pgu - updated : 05-11-2011
HGNC name transforming growth factor, beta receptor 1
HGNC id 11772
Corresponding disease
FRLS Furlong syndrome
FTAA4 aortic aneurysm, familial thoracic 4
LDS1A Loeys-Dietz syndrome, type 1A
MSSE multiple self-healing squamous epithelioma
Location 9q22.33      Physical location : 101.867.411 - 101.916.471
Synonym name
  • activin A receptor like kinase
  • serine/threonine-protein kinase receptor R4
  • transforming growth factor, beta receptor I
  • transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa)
    • Synonym symbol(s) ACVRLK4, ALK5, SKR4, TGFR-1, LDS1A, LDS2A, AAT5
    EC.number 2.7.11.30, 2.7.1.37
    DNA
    TYPE functioning gene
    STRUCTURE 49.06 kb     9 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC389777 9 LOC389777 LOC286359 9q22.33 hypothetical protein LOC286359 PCTAIRE2BP 9q22.33 tudor repeat associator with PCTAIRE 2 TMOD1 9q22.32-q22.33 tropomodulin 1 LOC158427 9q22.33 PP4189 NCBP1 9q34.1 nuclear cap binding protein subunit 1, 80kDa XPA 9q22.32 xeroderma pigmentosum, complementation group A LOC392371 9 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) FOXE1 9q22.3 forkhead box E1 (thyroid transcription factor 2) NAP1 19q13.33 pronapsin A HEMGN 9q22.33 hemogen ANP32B 9q22.32 acidic (leucine-rich) nuclear phosphoprotein 32 family, member B NANS 9p24.1-p23 N-acetylneuraminic acid synthase (sialic acid synthase) TRIM14 9q22.32 tripartite motif-containing 14 CORO2A 9q22.3 coronin, actin binding protein, 2A TBC1D2 9q22.33 TBC1 domain family, member 2 GPR51 9q22.1 G protein-coupled receptor 51 SAMD6 9q31.1 sterile alpha motif domain containing 6 GALNT12 9q22.33 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12) LOC392372 9 similar to Nucleoside diphosphate kinase B (NDK B) (NDP kinase B) (P18) COL15A1 9q22.32-q22.33 collagen, type XV, alpha 1 TGFBR1 9q22 transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) ALG2 9q31.1 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) SEC61B 9q22.32-q31.3 asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase) LOC347265 9q31.1 similar to bA13B9.3 (novel protein similar to KRT8) LOC389778 9 LOC389778 NR4A3 9q22.32-q22.33 nuclear receptor subfamily 4, group A, member 3 STX17 9q31.1 syntaxin 17 INVS 9q31 inversin FLJ20287 9q31.1 hypothetical protein FLJ20287 MGC17337 9q31.1 similar to RIKEN cDNA 5730528L13 gene TMEFF1 9q31 transmembrane protein with EGF-like and two follistatin-like domains 1 LOC347273 9q31.1 similar to RIKEN cDNA 2310039E09 LOC392373 9 similar to ACTB protein
    RNA
    TRANSCRIPTS type messenger
    text alternatively spliced in vascular smooth cells (Valcourt)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 6244 - 426 - 2002 12239581
    9 - 6475 - 503 - 2002 12239581
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Hearing/Equilibriumear   highly
    Respiratoryrespiratory tractlarynx  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skeletonosteoblast
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 24 aa signal peptide with a 2,3 kDa molecular weight
  • cysteine-rich N terminal extracellular domain involved in ligand binding
  • a single transmembrane domain
  • glycine-serine-rich domain
  • a regulatory segment called the GS region and a C terminal serine/threonine kinase domain with a stretch of alanine (GCC) repeats
    • conjugated GlycoP
    mono polymer homomer , dimer
    isoforms Precursor 479 aa mature peptide with a 53,6 kDa molecular weight
    HOMOLOGY
    interspecies homolog to rattus Tgfbr1 (97,18 pc)
    homolog to murine Tgfbr1 (97,19 pc)
    Homologene
    FAMILY
  • ser/thr protein kinase family
  • TGFB receptor subfamily
    • CATEGORY signaling growth factor , receptor membrane
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • mediating the induction of several genes involved in cell-matrix interactions
  • TGFB1-TGFBR1-MAPK signaling in tumor cells promotes tumor angiogenesis
    • CELLULAR PROCESS cell cycle
    cell life, proliferation/growth
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development , ossification
    PATHWAY
    metabolism
    signaling
    a component
  • hererodimerizing with TGFBR2
    • INTERACTION
    DNA
    RNA
    small molecule cofactor,
    magnesium or manganese
    protein
  • binding TGFB when coexpressed with TGFBR
  • interacting with TGFBRAP1
  • interaction with GATA6 (promotes angiogenic function and survival in endothelial cells by suppression of TGFBR1)
  • GIPC1, ACVR1, BMPR1A, and TGFBR1 are signaling components required for TGFBR3-mediated endothelial cell epithelial-mesenchymal transformation
    • cell & other
    REGULATION
    activated by Vitamin D3 increasing TGFB1 binding to osteoblasts via TGFBRs
    induced by RUNX2 transcription regulation
    repressed by negatively regulated and degradated by SMURF1 through MADH7 (Smad7)
    ASSOCIATED DISORDERS
    corresponding disease(s) LDS1A , FRLS , FTAA4 , MSSE
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral        
    somatic acquisition of the common TGFBR*6A hypomorphic variant in colorectal and head and neck tumors is a critical event in early stage of cancer development
    Susceptibility
  • to colorectal cancer
  • to abdominal aortic aneurysm (AAA)
    • Variant & Polymorphism SNP , other
  • including two variants TGFBR1, 6A and TGFBR1, 10A
  • germline allele-specific expression increasing the risk of colorectal cancer
  • SNP rs1626340 associated to abdominal aortic aneurysm (AAA)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS