Basic Information

Symbol
TGFBR1
RNA class
mRNA
Alias
Transforming Growth Factor Beta Receptor 1 ALK-5 ALK5 ACVRLK4 TBR-I TBRI Activin A Receptor Type II-Like Protein Kinase Of 53kD Transforming Growth Factor-Beta Receptor Type I Activin A Receptor Type II-Like Kinase, 53kDa Serine/Threonine-Protein Kinase Receptor R4 Transforming Growth Factor Beta Receptor I Activin Receptor-Like Kinase 5 TGF-Beta Receptor Type-1 EC 2.7.11.30 TbetaR-I TGFR-1 ESS1 MSSE SKR4 Mutant Transforming Growth Factor Beta Receptor I Multiple Self-Healing Squamous Epithelioma TGF-Beta Type I Receptor TGF-Beta Receptor Type I EC 2.7.11 LDS1A LDS2A AAT5 LDS1
Location (GRCh38)
9:99104038-99154192
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Cause of death analysis Sudden death from CNS diseases
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_004612.4
Sequence length
6492.0 nt
GC content
0.3880

Transcripts

ID Sequence Length GC content
NM_001130916.3 NCBI
GGCGGCUAGGGAGGUGGGGCGAGGCGAGGUUUGCUGGGGUGAGGCAGCG… 6261 nt 0.3851
NM_001306210.2 NCBI
GGCGGCUAGGGAGGUGGGGCGAGGCGAGGUUUGCUGGGGUGAGGCAGCG… 6504 nt 0.3882
NM_001407416.1 NCBI
GGCGGCUAGGGAGGUGGGGCGAGGCGAGGUUUGCUGGGGUGAGGCAGCG… 6336 nt 0.3867
NM_001407417.1 NCBI
GGCGGCUAGGGAGGUGGGGCGAGGCGAGGUUUGCUGGGGUGAGGCAGCG… 6324 nt 0.3865
NM_001407418.1 NCBI
GAGUUUGCUGCUGAGGCUGCUGGAGCUGCGGUGUAGAGCAAGUUGCAGG… 6409 nt 0.3774
NM_001407419.1 NCBI
AGUUACAAAGGGCCGGAGCGAGGCCGCCGCGGCGGCUAGGGAGCGUUAC… 6357 nt 0.3774
NM_001407420.1 NCBI
GGCGGCUAGGGAGGUGGGGCGAGGCGAGGUUUGCUGGGGUGAGGCAGCG… 6640 nt 0.3895
NM_001407422.1 NCBI
GGCGGCUAGGGAGGUGGGGCGAGGCGAGGUUUGCUGGGGUGAGGCAGCG… 6609 nt 0.3889
NM_001407423.1 NCBI
GAGUUUGCUGCUGAGGCUGCUGGAGCUGCGGUGUAGAGCAAGUUGCAGG… 6397 nt 0.3772
NM_001407424.1 NCBI
AGUCUGACAGGAAGAAUUACAAAUCUGGAGCUCAUUUUGGCGUCGCAGA… 6357 nt 0.3756
Showing 1 to 10 of 24 entries
Summary

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]

Forensic Context

A study in rats demonstrated that irradiation induces significant alterations in mRNA and miRNA expression in lung tissue, with 2183 transcripts up-regulated and 2917 down-regulated, alongside 15 up-regulated and 8 down-regulated miRNA species [Xie et al. DOI:10.1186/1748-717X-9-111]. Separately, a single-cell RNA sequencing study in mice with spinal cord injury identified the TGFBR1 as a hub gene highly expressed 14-days post-injury, where it was closely related to immune cell infiltration and demonstrated high diagnostic efficacy with an AUC of 0.995 in ROC curve analysis [Bao et al. DOI:10.1186/s13018-023-04195-5].