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

Mammalian homology

human; rat; cattle; chimpanzee; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Tgfbr1 ± 2 cM)

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

Human ortholog

TGFBR1 transforming growth factor, beta receptor 1 NCBI Gene ID 7046
Human Synonyms: AAT5, ACVRLK4, ALK5, ALK-5, LDS1A, LDS2A, MSSE, SKR4, TGFR-1
Human Chr9:101867412-101916474 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human TGFBR1 (3)

Alleles and phenotypes

All alleles(16) : Targeted(10) Gene trapped(5) Chemically induced(1)
 

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

All GO classifications: (111 annotations)

Process	activation of MAPKK activity, angiogenesis, ...
Component	apical plasma membrane, basolateral plasma membrane, ...
Function	ATP binding, I-SMAD binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (59 records)
Data Summary: Results (437)    Tissues (310)    Images (134)
Theiler Stages: 2, 3, 17, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	11
RNA in situ	208
In situ reporter (knock in)	129
RT-PCR	89

cDNA source data(151)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(163) cDNA(152) Primer pair(9) Other(2)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000006800 (Evidence)
Ensembl Gene Model	ENSMUSG00000007613 (Evidence)
Entrez Gene	21812 (Evidence)
UniGene	197552
DFCI	TC1580349, TC1604121, TC1640144, TC1649968
DoTS	DT.110830201, DT.489966, DT.94207754
NIA Mouse Gene Index	U004298, U322909
EC	2.7.11.30
Consensus CDS Project	CCDS18160.1
International Mouse Knockout Project Status	Tgfbr1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006800	VEGA Gene Model | MGI Sequence Detail	61710	C57BL/6J
transcript	OTTMUST00000015672	VEGA | MGI Sequence Detail	5756	Not Applicable
polypeptide	OTTMUSP00000007205	VEGA | MGI Sequence Detail	503	Not Applicable

All sequences(47) RefSeq(2) UniProt(6)

Polymorphisms

PCR(1) : SNPs(147 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192167 Lin HY, et al., Differential response of epithelial stem cell populations in hair follicles to TGF-beta signaling. Dev Biol. 2013 Jan 15;373(2):394-406
All references(156)

Other accession IDs

MGD-MRK-15070, MGI:2140434