TGFBRAP1 Gene Summary [Human]

This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes. [provided by RefSeq, Jun 2016]

Details

Type
Protein Coding
Official Symbol
TGFBRAP1
Official Name
transforming growth factor beta receptor associated protein 1 [Source:HGNC Symbol;Acc:HGNC:16836]
Ensembl ID
ENSG00000135966
Bio databases IDs NCBI: 9392 Ensembl: ENSG00000135966
Aliases transforming growth factor beta receptor associated protein 1, VPS3 CORVET complex subunit
Synonyms 3110018K12RIK, TGF beta receptor ASSOCIATED protein 1, TGF β receptor ASSOCIATED protein 1, transforming growth factor beta receptor associated protein 1, transforming growth factor, beta receptor associated protein 1, transforming growth factor β receptor associated protein 1, transforming growth factor, β receptor associated protein 1, TRAP-1, VPS3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TGFBRAP1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • SMAD binding
  • receptor binding domain
  • transforming growth factor-beta receptor binding
  • CNH domain
  • Region in Clathrin and VPS
  • Vacuolar sorting protein 39 domain 2
  • protein binding
  • Clathrin heavy chain repeat homology
  • Vacuolar sorting protein 39 domain 1

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • chronic kidney disease
  • schizophrenia
  • endometriosis
  • abdominal aortic aneurysm
  • metabolic syndrome X
regulated by
  • L-methionine
  • NEF
  • cyclosporin A
  • dexamethasone
  • CD3 (complex)
  • SLC22A5

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • intracellular membrane-bounded organelle
  • cellular membrane
  • early endosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human TGFBRAP1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • regulation of SNARE complex assembly
  • signal transduction
  • autophagy
  • transforming growth factor beta receptor signaling pathway
  • regulation of transcription, DNA-dependent
  • endosome to lysosome transport
  • endosomal vesicle fusion
  • intracellular protein transport

Cellular Component

Where in the cell the gene product is active
  • early endosome
  • cytoplasm
  • CORVET complex
  • intracellular membrane-bounded organelle
  • membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • SMAD binding
  • transforming growth factor beta receptor binding

Gene-Specific Assays for Results You Can Trust

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