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Tgfbr1 transforming growth factor, beta receptor I [ Mus musculus (house mouse) ]

Gene ID: 21812, updated on 17-Jan-2023

Summary

Official Symbol
Tgfbr1provided by MGI
Official Full Name
transforming growth factor, beta receptor Iprovided by MGI
Primary source
MGI:MGI:98728
See related
Ensembl:ENSMUSG00000007613 AllianceGenome:MGI:98728
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
ALK5; ESK2; Alk-5; TGFR-1; TbetaRI; TbetaR-I
Summary
This gene encodes a member of the transforming growth factor beta (TGF-beta) receptor family of proteins. These proteins comprise one component of the TGF-beta signaling pathway, which transduces extracellular signals into gene expression changes to regulate a wide range of cellular responses, including proliferation, migration, differentiation and apoptosis. Homozygous knockout mice for this gene exhibit impaired angiogenesis and embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Broad expression in CNS E11.5 (RPKM 19.6), placenta adult (RPKM 12.8) and 25 other tissues See more
Orthologs
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Genomic context

See Tgfbr1 in Genome Data Viewer
Location:
4 B1; 4 26.02 cM
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (47353222..47414926)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (47353222..47414926)

Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene collagen, type XV, alpha 1 Neighboring gene predicted gene, 52732 Neighboring gene predicted gene, 42282 Neighboring gene predicted gene, 32435 Neighboring gene microfibrillar-associated protein 1B pseudogene Neighboring gene asparagine-linked glycosylation 2 (alpha-1,3-mannosyltransferase)

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding ISO
Inferred from Sequence Orthology
more info
 
enables I-SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables SMAD binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables SMAD binding IDA
Inferred from Direct Assay
more info
PubMed 
enables SMAD binding ISO
Inferred from Sequence Orthology
more info
 
enables activin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables activin receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to growth factor binding ISO
Inferred from Sequence Orthology
more info
 
enables kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein serine/threonine kinase activity ISO
Inferred from Sequence Orthology
more info
 
enables protein-containing complex binding ISO
Inferred from Sequence Orthology
more info
 
enables signaling receptor binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
 
enables transforming growth factor beta binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to transforming growth factor beta binding ISO
Inferred from Sequence Orthology
more info
 
enables transforming growth factor beta binding ISO
Inferred from Sequence Orthology
more info
 
enables transforming growth factor beta receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transforming growth factor beta receptor activity IGI
Inferred from Genetic Interaction
more info
PubMed 
contributes_to transforming growth factor beta receptor activity ISO
Inferred from Sequence Orthology
more info
 
enables transforming growth factor beta receptor activity ISO
Inferred from Sequence Orthology
more info
 
enables transforming growth factor beta receptor activity, type I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables transforming growth factor beta receptor activity, type I ISO
Inferred from Sequence Orthology
more info
 
enables transmembrane receptor protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables type II transforming growth factor beta receptor binding ISO
Inferred from Sequence Orthology
more info
 
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
more info
 
Process Evidence Code Pubs
involved_in activin receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within angiogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in angiogenesis involved in coronary vascular morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within anterior/posterior pattern specification IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within blastocyst development IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cell motility ISO
Inferred from Sequence Orthology
more info
 
involved_in cellular response to growth factor stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to transforming growth factor beta stimulus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to transforming growth factor beta stimulus ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within collagen fibril organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in coronary artery morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryo development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of endothelial cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in epicardium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in epithelial to mesenchymal transition ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of filopodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within germ cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within kidney development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within lens development in camera-type eye IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within negative regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of endothelial cell differentiation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within negative regulation of endothelial cell proliferation IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of extrinsic apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in negative regulation of miRNA transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in nervous system development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within neuron fate commitment IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within parathyroid gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pathway-restricted SMAD protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in peptidyl-serine phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in peptidyl-threonine phosphorylation ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within pharyngeal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of positive regulation of MAPK cascade ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of SMAD protein signal transduction ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of apoptotic signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell growth ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell migration ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of cell population proliferation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of epithelial to mesenchymal transition IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within positive regulation of filopodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of miRNA transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of protein kinase B signaling ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of stress fiber assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of tight junction disassembly IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within post-embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT involved_in proepicardium development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein autophosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein phosphorylation ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
 
involved_in regulation of cardiac muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within regulation of growth IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein ubiquitination ISO
Inferred from Sequence Orthology
more info
 
involved_in response to cholesterol IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to cholesterol ISO
Inferred from Sequence Orthology
more info
 
involved_in response to estrogen ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within roof of mouth development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within roof of mouth development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within skeletal system development IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within skeletal system morphogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within thymus development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transforming growth factor beta receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within 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 
acts_upstream_of_or_within transforming growth factor beta receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transforming growth factor beta receptor signaling pathway ISO
Inferred from Sequence Orthology
more info
 
involved_in transmembrane receptor protein serine/threonine kinase signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in ventricular compact myocardium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ventricular septum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ventricular trabecula myocardium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of activin receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in bicellular tight junction ISO
Inferred from Sequence Orthology
more info
 
located_in caveola ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in cell junction IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in membrane raft ISO
Inferred from Sequence Orthology
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 
part_of protein-containing complex ISO
Inferred from Sequence Orthology
more info
 
part_of receptor complex ISO
Inferred from Sequence Orthology
more info
 
part_of transforming growth factor beta ligand-receptor complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
TGF-beta receptor type-1
Names
TGF-beta receptor type I
transforming growth factor-beta receptor type I
NP_001299797.1
NP_001299798.1
NP_033396.1
XP_030109257.1
XP_036019848.1

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.

mRNA and Protein(s)

  1. NM_001312868.1NP_001299797.1  TGF-beta receptor type-1 isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    BC063260, BY200044, CK637995
    Consensus CDS
    CCDS84728.1
    UniProtKB/Swiss-Prot
    Q64729
    Related
    ENSMUSP00000048501.8, ENSMUST00000044234.14
    Conserved Domains (4) summary
    cd14143
    Location:205492
    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:30110
    Activin_recp; Activin types I and II receptor domain
    pfam07714
    Location:201488
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:172199
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. NM_001312869.1NP_001299798.1  TGF-beta receptor type-1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start site compared to variant 1. The encoded isoform (3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AK015337, BC063260
    Consensus CDS
    CCDS84729.1
    UniProtKB/Swiss-Prot
    Q64729
    UniProtKB/TrEMBL
    Q9D5H8
    Related
    ENSMUSP00000103353.3, ENSMUST00000107725.3
    Conserved Domains (3) summary
    cd14143
    Location:126413
    STKc_TGFbR1_ACVR1b_ACVR1c; Catalytic domain of the Serine/Threonine Kinases, Transforming Growth Factor beta Type I Receptor and Activin Type IB/IC Receptors
    pfam07714
    Location:122409
    Pkinase_Tyr; Protein tyrosine kinase
    pfam08515
    Location:93120
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  3. NM_009370.3NP_033396.1  TGF-beta receptor type-1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_033396.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC063260, BY200044
    Consensus CDS
    CCDS18160.1
    UniProtKB/Swiss-Prot
    A2AJN0, Q64729
    UniProtKB/TrEMBL
    Q4FJL1
    Related
    ENSMUSP00000007757.9, ENSMUST00000007757.15
    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:30110
    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: Mus musculus 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 GRCm39 C57BL/6J

Genomic

  1. NC_000070.7 Reference GRCm39 C57BL/6J

    Range
    47353222..47414926
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030253397.1XP_030109257.1  TGF-beta receptor type-1 isoform X2

    Related
    ENSMUSP00000123761.2, ENSMUST00000126171.9
    Conserved Domains (2) 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
    pfam08515
    Location:111138
    TGF_beta_GS; Transforming growth factor beta type I GS-motif
  2. XM_036163955.1XP_036019848.1  TGF-beta receptor type-1 isoform X1

    Conserved Domains (3) summary
    cd14143
    Location:250537
    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:82147
    Activin_recp; Activin types I and II receptor domain
    pfam08515
    Location:217244
    TGF_beta_GS; Transforming growth factor beta type I GS-motif