ZFIN ID: ZDB-GENE-051120-75
Gene Name: transforming growth factor, beta receptor 1 a
Gene Symbol: tgfbr1a    Nomenclature History

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Previous Names: tgfbr1 (1), alk5a (1), zgc:123263 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 2 Mapping Details/Browsers
Description: Predicted to have SMAD binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Predicted to be involved in several processes, including heart development; protein phosphorylation; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to localize to activin receptor complex. Is expressed in brain; endoderm; eye; heart; and pharyngeal arch. Human ortholog(s) of this gene implicated in Ferguson-Smith tumor; Loeys-Dietz syndrome 1; Lynch syndrome; and urinary bladder cancer. Orthologous to human TGFBR1 (transforming growth factor beta receptor 1).
Genome Resources: Alliance (1),  Gene:560578 (1),  Ensembl(GRCz11):ENSDARG00000017494 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
la010336Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH tgfbr1a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Loeys-Dietz syndrome 1 Alliance Loeys-Dietz syndrome 1 609192
    {Multiple self-healing squamous epithelioma, susceptibility to} 132800
    DISEASE ASSOCIATED WITH tgfbr1a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process phosphorylation (more)
    Cellular Component integral component of membrane (more)
    Molecular Function ATP binding (more)
    GO Terms (all 24)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA tgfbr1a-201 (1)    Ensembl 1703
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    SignaFish
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM tgfbr1a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    tg(hsp70l:dntgfbr1a-2a-hsa.histh2bj-gfp) hsp70l 2AGFPtgfbr1a Danio rerioHomo sapiens 1 1
    MARKER RELATIONSHIPS
    tgfbr1a Contained in: [BAC] DKEY-24C2 (1) (order this), DKEYP-93C5 (1)
    tgfbr1a Encodes: [cDNA] MGC:123263 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001037683 (1) 2147 nt
    Genomic GenBank:BX649335 (1) 220851 nt Blast at MegaBLAST
    Polypeptide UniProtKB:B0EXP6 (1) 500 aa
    Sequence Information (all 14)
    ORTHOLOGY for tgfbr1a ( Chr: 2 )
    CITATIONS (39)