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 enable SMAD binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in vascular endothelial cell proliferation. Predicted to be located in bicellular tight junction; cell surface; and membrane raft. Predicted to be part of activin receptor complex. Predicted to be active in plasma membrane. Is expressed in brain; endoderm; eye; heart; and pharyngeal arch. Human ortholog(s) of this gene implicated in Loeys-Dietz syndrome 1; Lynch syndrome; carcinoma (multiple); colorectal cancer; and urinary bladder cancer. Orthologous to human TGFBR1 (transforming growth factor beta receptor 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
8 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from Bensimon-Brito et al., 2021
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
bns329Allele with one delinsUnknownUnknownCRISPR
la010336TgTransgenic insertionUnknownUnknownDNA
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Sequence Targeting Reagents
Targeting Reagent Created Alleles Citations
CRISPR1-tgfbr1a (2)
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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
1 - 2 of 2
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
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Domain Details Per Protein
Protein Additional Resources 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 Snake toxin-like superfamily
UniProtKB:B0EXP6 InterPro 500
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 2
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA tgfbr1a-201 (1) Ensembl 1,703 nt
1 - 1 of 1
Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(hsp70l:dntgfbr1a-2A-Hsa.HISTH2BJ-GFP)
  • Danio rerio
  • Homo sapiens
1Bensimon-Brito et al., 2019
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-24C2ZFIN Curated Data
Contained inBACDKEYP-93C5ZFIN Curated Data
EncodescDNAMGC:123263ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanTGFBR19
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
MouseTgfbr14
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
1 - 10 of 30
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