Gene

tgfbr1a

ID
ZDB-GENE-051120-75
Name
transforming growth factor, beta receptor 1 a
Symbol
tgfbr1a Nomenclature History
Previous Names
  • tgfbr1 (1)
  • alk5a (1)
  • zgc:123263 (1)
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have SMAD binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Predicted to be involved in several processes, including heart development; protein phosphorylation; and transmembrane receptor protein serine/threonine kinase signaling pathway. Predicted to localize to activin receptor complex. Is expressed in brain; endoderm; eye; heart; and pharyngeal arch. Human ortholog(s) of this gene implicated in Ferguson-Smith tumor; Loeys-Dietz syndrome 1; Lynch syndrome; and urinary bladder cancer. Orthologous to human TGFBR1 (transforming growth factor beta receptor 1).
Genome Resources
Note
None
Expression
All Expression Data
6 figures from 6 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With tgfbr1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Loeys-Dietz syndrome 1 Alliance Loeys-Dietz syndrome 1 609192
{Multiple self-healing squamous epithelioma, susceptibility to} 132800
Associated With tgfbr1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR008271 Serine/threonine-protein kinase, active site
Binding_site IPR017441 Protein kinase, ATP binding site
Domain IPR000472 Activin types I and II receptor domain
Domain IPR000719 Protein kinase domain
Domain IPR003605 GS domain
Family IPR000333 Ser/Thr protein kinase, TGFB receptor
Homologous_superfamily IPR011009 Protein kinase-like domain superfamily
Domain Details Per Protein
Protein Length Activin types I and II receptor domain GS domain Protein kinase, ATP binding site Protein kinase domain Protein kinase-like domain superfamily Serine/threonine-protein kinase, active site Ser/Thr protein kinase, TGFB receptor
UniProtKB:B0S6E3 500
UniProtKB:Q32LW6 495
UniProtKB:B0EXP6 500
Transcripts
Genome Browsers
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations