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Tgfbr1
Gene Detail
 Symbol
Name
ID
Tgfbr1
transforming growth factor, beta receptor I
MGI:98728
Synonyms Alk-5, ALK5, TbetaRI, TbetaR-I
Feature Type protein coding gene
Genetic Map
Chromosome 4
26.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr4:47353222-47414931 bp, + strand
From VEGA annotation of GRCm38

  61710 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3177  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: type I serine/threonine-protein kinase receptor, Activin/BMP/TGF-beta types
Gene Tree: Tgfbr1

Human
homologs
Human Homolog TGFBR1, transforming growth factor, beta receptor 1
NCBI Gene ID 7046
neXtProt AC  NX_P36897
Human Synonyms  AAT5, ACVRLK4, ALK5, ALK-5, ESS1, LDS1, LDS1A, LDS2A, MSSE, SKR4, TGFR-1
Human Chr (Location)  9q22; chr9:99105130-99154192 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human TGFBR1
Mutations,
alleles, and
phenotypes
All mutations/alleles(20) : Chemically induced (ENU)(1) Gene trapped(5) Targeted(14)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Tgfbr1 (3)    Alleles Annotated to Human Diseases(2)   
Interactions
Tgfbr1 interacts with 432 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (122 annotations)
Process activation of MAPKK activity, angiogenesis, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function ATP binding, growth factor binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (63 records)
Data Summary: Results (482)    Tissues (316)    Images (140)
Theiler Stages: 2, 3, 17, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28
Assay TypeResults
Immunohistochemistry 16
RNA in situ 208
In situ reporter (knock in) 129
Western blot 18
RT-PCR 111
cDNA source data(151)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(165) cDNA(152) Primer pair(11) Other(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000006800 (Evidence)
Ensembl Gene ModelENSMUSG00000007613 (Evidence)
Entrez Gene21812 (Evidence)
UniGene197552
DFCITC1580349, TC1604121, TC1640144, TC1649968
DoTSDT.110830201, DT.489966, DT.94207754
NIA Mouse Gene IndexU004298, U322909
EC2.7.11.30
Consensus CDS ProjectCCDS18160.1
International Mouse Knockout Project StatusTgfbr1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006800 VEGA Gene Model | MGI Sequence Detail 61710 C57BL/6J ±  kb
transcript OTTMUST00000015672 VEGA | MGI Sequence Detail 5756 Not Applicable 
polypeptide OTTMUSP00000007205 VEGA | MGI Sequence Detail 503 Not Applicable 

For the selected sequences
All sequences(51) RefSeq(6) UniProt(6)
Polymorphisms PCR(1) : SNPs within 2kb(163 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000333 Activin type II/Transforming growth factor-beta II receptor
InterPro IPR017441 Protein kinase, ATP binding site
InterPro IPR000719 Protein kinase, catalytic domain
InterPro IPR011009 Protein kinase-like domain
InterPro IPR008271 Serine/threonine-protein kinase, active site
InterPro IPR000472 TGF-beta receptor/activin receptor, type I/II
InterPro IPR003605 TGF beta receptor, GS motif
Protein Ontology PR:000000047 TGF-beta receptor type-1
References (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:209044 El-Gohary Y, et al., A smad signaling network regulates islet cell proliferation. Diabetes. 2014 Jan;63(1):224-36
All references(179)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-15070, MGI:2140434

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory