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Tgfbr1 Gene Detail
Summary
  • Symbol
    Tgfbr1
  • Name
    transforming growth factor, beta receptor I
  • Synonyms
    Alk-5, ALK5, TbetaR-I, TbetaRI
  • Feature Type
    protein coding gene
  • IDs
    MGI:98728
    NCBI Gene: 21812
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:47353258-47414926 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 26.02 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    901 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_98728
 protein coding gene Chr4:47353222-47414931 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028267
 protein coding gene Chr4:45733278-45794892 (+)
A/J MGP_AJ_G0028226
 protein coding gene Chr4:44009013-44071238 (+)
AKR/J MGP_AKRJ_G0028176
 protein coding gene Chr4:45123712-45184935 (+)
BALB/cJ MGP_BALBcJ_G0028246
 protein coding gene Chr4:44132419-44193653 (+)
C3H/HeJ MGP_C3HHeJ_G0027967
 protein coding gene Chr4:45717731-45781435 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028687
 protein coding gene Chr4:47411724-47476189 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025996
 protein coding gene Chr4:41389917-41450372 (+)
CAST/EiJ MGP_CASTEiJ_G0027406
 protein coding gene Chr4:45298383-45389494 (+)
CBA/J MGP_CBAJ_G0027933
 protein coding gene Chr4:48920685-48984505 (+)
DBA/2J MGP_DBA2J_G0028083
 protein coding gene Chr4:43915196-43975759 (+)
FVB/NJ MGP_FVBNJ_G0028050
 protein coding gene Chr4:43180724-43246018 (+)
LP/J MGP_LPJ_G0028182
 protein coding gene Chr4:45785626-45844236 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028074
 protein coding gene Chr4:51956953-52020600 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028722
 protein coding gene Chr4:45347743-45410919 (+)
PWK/PhJ MGP_PWKPhJ_G0027131
 protein coding gene Chr4:44026424-44089182 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026959
 protein coding gene Chr4:44850390-44911524 (+)
WSB/EiJ MGP_WSBEiJ_G0027484
 protein coding gene Chr4:45268011-45329686 (+)



Homology
more
  • Human Ortholog
    TGFBR1, transforming growth factor beta receptor 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    TGFBR1, transforming growth factor beta receptor 1
  • Synonyms
    AAT5, ACVRLK4, ALK-5, ALK5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, tbetaR-I, TBR-i, TBRI, TGFR-1
  • Links
    NCBI Gene ID: 7046
    neXtProt AC: NX_P36897
    UniProt: P36897

  • Chr Location
    9q22.33; chr9:99103647-99154192 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with Tgfbr1 mouse models; 6 with human TGFBR1 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 1 model
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    79 phenotypes from 11 alleles in 18 genetic backgrounds
    20 phenotypes from multigenic genotypes
    1 images
    163 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygotes for some targeted null mutations exhibit defects of the yolk sac and placenta, lack circulating erythrocytes, and die at midgestation. Mutant endothelial cells show enhanced proliferation, improper migration, and reduced fibronectin production.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    199
  • GO References
    43
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1601
  • Tissues
    591
  • cDNA Data
    154
  • Literature Summary
    98
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 21812 NCBI Gene Model | MGI Sequence Detail 61669 C57BL/6J ±  kb
    transcript NM_001429653 RefSeq | MGI Sequence Detail 5889 C57BL/6  
    polypeptide Q64729 UniProt | EBI | MGI Sequence Detail 503 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 184
      cDNA 155
      Primer pair 24
      Other 5

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-15070, MGI:2140434
    References
    more
    • Summaries
      All 368
      Developmental Gene Expression 98
      Diseases 5
      Gene Ontology 43
      Phenotypes 163
    • Earliest
      J:16378 Segarini PR, TGF-beta receptors: a complicated system of multiple binding proteins. Biochim Biophys Acta. 1993 Dec 23;1155(3):269-75
    • Latest
      J:357895 Houchen CJ, et al., TGF-beta signaling in the cranial neural crest affects late-stage mandibular bone resorption and length. Front Physiol. 2024;15:1435594
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory