Gene: TGFBR1 (transforming growth factor, beta receptor 1)  Homo sapiens
Symbol: TGFBR1
Name: transforming growth factor, beta receptor 1
Description: The protein encoded by this gene forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AAT5; activin A receptor type II-like kinase, 53kD; activin A receptor type II-like kinase, 53kDa; activin A receptor type II-like protein kinase of 53kD; activin receptor-like kinase 5; ACVRLK4; ALK-5; ALK5; LDS1A; LDS2A; MSSE; OTTHUMP00000021783; OTTHUMP00000242324; OTTHUMP00000242325; OTTHUMP00000242326; OTTHUMP00000242329; serine/threonine-protein kinase receptor R4; SKR4; tbetaR-I; TGF-beta receptor type I; TGF-beta receptor type-1; TGF-beta type I receptor; TGFR-1; transforming growth factor beta receptor I; transforming growth factor, beta receptor 1; transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD); transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa); transforming growth factor-beta receptor type I
Orthologs: Mus musculus : Tgfbr1 (transforming growth factor, beta receptor I)  MGI
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_19101,881,430 - 101,930,481+NCBI
Human Genome Assembly HuRef971,464,684 - 71,515,132+NCBI
Human Genome Assembly GRCh379101,867,412 - 101,916,474+NCBI
Human Genome Assembly Build 369100,907,233 - 100,956,295+NCBI
Human Cytogenetic Map9q22 NCBI
Human Genome Assembly998,946,966 - 98,991,862 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)

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Sequence

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Nomenclature History
  
More on TGFBR1
Entrez Gene
Ensembl Gene
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Vista + UCSC

RGD Object Information
RGD ID: 733386
Created: 2004-01-12
Species: Homo sapiens
Last Modified: 2013-04-23
Status: ACTIVE



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