Transforming Growth Factor-Beta Receptor, Type I

Alternative Names

  • TGFBR1
  • Activin Receptor-Like Kinase 5
  • ALK5
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OMIM Number

190181

NCBI Gene ID

7046

Uniprot ID

P36897

Length

50,155 bases

No. of Exons

11

No. of isoforms

3

Protein Name

TGF-beta receptor type-1

Molecular Mass

55960 Da

Amino Acid Count

503

Genomic Location

chr9:99,104,037-99,154,191

Gene Map Locus
9q22.33

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_004612.4:c.51_78=LebanonNC_000009.12:g.99105256_99105283=Colorectal CancerNG_007461.1:g.5127_5154=; NM_004612.4:c.51_78=; NP_004603.1:p.Leu17_Ala26=11466445
NM_004612.4:c.52_54GCG[6]LebanonNC_000009.12:g.99105257_99105259GCG[6]Benign, Likely BenignColorectal CancerNG_007461.1:g.5128_5130GCG[6]; NM_004612.4:c.52_54GCG[6]; NP_004603.1:p.Ala24_Ala26del11466445165381
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