Tgfbr1 MGI Mouse Gene Detail - MGI:98728 - transforming growth factor, beta receptor I

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

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 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, LDS1A, LDS2A, MSSE, SKR4, TGFR-1
Human Chr (Location)		9q22; chr9:101867412-101916474 (+) GRCh37.p10
Disease Associations		(3) Diseases Associated with Human TGFBR1

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: (114 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: (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

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:194341 Zhang L, et al., MicroRNA-135b acts as a tumor promoter by targeting the hypoxia-inducible factor pathway in genetically defined mouse model of head and neck squamous cell carcinoma. Cancer Lett. 2013 May 1;331(2):230-8
All references(158)

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
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