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Aliases for TGFBRAP1 Gene

Aliases for TGFBRAP1 Gene

  • Transforming Growth Factor, Beta Receptor Associated Protein 1 2 3
  • TGF-Beta Receptor-Associated Protein 1 3 4
  • TRAP-1 3 4
  • TRAP1 3 4
  • TGF Beta Receptor Associated Protein -1 3

External Ids for TGFBRAP1 Gene

Previous GeneCards Identifiers for TGFBRAP1 Gene

  • GC02M104336
  • GC02M105488
  • GC02M105504
  • GC02M105342
  • GC02M105880
  • GC02M099652

Summaries for TGFBRAP1 Gene

GeneCards Summary for TGFBRAP1 Gene

TGFBRAP1 (Transforming Growth Factor, Beta Receptor Associated Protein 1) is a Protein Coding gene. Among its related pathways are Neuroscience and TGF-beta Receptor Signaling Pathway. GO annotations related to this gene include SMAD binding and transforming growth factor beta receptor binding. An important paralog of this gene is VPS39.

UniProtKB/Swiss-Prot for TGFBRAP1 Gene

  • Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2.

  • Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes and in degradative but not recycling trafficking of endocytosed cargo (PubMed:25266290).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGFBRAP1 Gene

Genomics for TGFBRAP1 Gene

Regulatory Elements for TGFBRAP1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TGFBRAP1 Gene

Chromosome:
2
Start:
105,249,404 bp from pter
End:
105,330,034 bp from pter
Size:
80,631 bases
Orientation:
Minus strand

Genomic View for TGFBRAP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGFBRAP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGFBRAP1 Gene

Proteins for TGFBRAP1 Gene

  • Protein details for TGFBRAP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WUH2-TGFA1_HUMAN
    Recommended name:
    Transforming growth factor-beta receptor-associated protein 1
    Protein Accession:
    Q8WUH2
    Secondary Accessions:
    • A8K5R7
    • D3DVJ8
    • O60466

    Protein attributes for TGFBRAP1 Gene

    Size:
    860 amino acids
    Molecular mass:
    97158 Da
    Quaternary structure:
    • Interacts with TGFBR2 and ACVR2B; in the absence of ligand stimulation. Interacts with TGFBR1, ACVRL1, BMPR1A and ACVR1B; in the absence of ligand stimulation and to a less extent. Interacts with SMAD4; the interaction seems to be mutually exclusive with the interaction of SMAD4 and phosphorylated SMAD2 (PubMed:9545258, PubMed:11278302). May interact with ALOX5 (PubMed:10051563). Interacts with RAB5C (By similarity). Interacts with VPS8, VPS11 and VPS16. Component of the putative class C core vacuaole/endosome tethering (CORVET) complex; the core of which composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, is associated with VPS8 and TGFBRAP1 (PubMed:25266290).

neXtProt entry for TGFBRAP1 Gene

Proteomics data for TGFBRAP1 Gene at MOPED

Post-translational modifications for TGFBRAP1 Gene

  • Ubiquitination at Lys 370 and Lys 630
  • Modification sites at PhosphoSitePlus

Other Protein References for TGFBRAP1 Gene

No data available for DME Specific Peptides for TGFBRAP1 Gene

Domains & Families for TGFBRAP1 Gene

Suggested Antigen Peptide Sequences for TGFBRAP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q8WUH2

UniProtKB/Swiss-Prot:

TGFA1_HUMAN :
  • Contains 1 CNH domain.
  • Belongs to the TRAP1 family.
  • Contains 1 CHCR (clathrin heavy-chain) repeat.
Domain:
  • Contains 1 CNH domain.
Family:
  • Belongs to the TRAP1 family.
Similarity:
  • Contains 1 CHCR (clathrin heavy-chain) repeat.
genes like me logo Genes that share domains with TGFBRAP1: view

No data available for Gene Families for TGFBRAP1 Gene

Function for TGFBRAP1 Gene

Molecular function for TGFBRAP1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2.
UniProtKB/Swiss-Prot Function:
Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes and in degradative but not recycling trafficking of endocytosed cargo (PubMed:25266290).

Gene Ontology (GO) - Molecular Function for TGFBRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005160 transforming growth factor beta receptor binding IDA 11278302
GO:0005515 protein binding IPI 11278302
GO:0046332 SMAD binding IDA 11278302
genes like me logo Genes that share ontologies with TGFBRAP1: view

Phenotypes for TGFBRAP1 Gene

GenomeRNAi human phenotypes for TGFBRAP1:
genes like me logo Genes that share phenotypes with TGFBRAP1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGFBRAP1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TGFBRAP1 Gene

Localization for TGFBRAP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGFBRAP1 Gene

Cytoplasm. Early endosome. Note=Colocalizes with TGF-beta receptors in the absence of signaling.

Gene Ontology (GO) - Cellular Components for TGFBRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005769 early endosome IDA 25266290
GO:0016020 membrane IDA 11278302
GO:0033263 CORVET complex IEA --
genes like me logo Genes that share ontologies with TGFBRAP1: view

No data available for Subcellular locations from COMPARTMENTS for TGFBRAP1 Gene

Pathways & Interactions for TGFBRAP1 Gene

genes like me logo Genes that share pathways with TGFBRAP1: view

Pathways by source for TGFBRAP1 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for TGFBRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IDA 11278302
GO:0006886 intracellular protein transport IEA --
GO:0007165 signal transduction IDA 11278302
GO:0007179 transforming growth factor beta receptor signaling pathway TAS 9545258
GO:0008333 endosome to lysosome transport IMP 25266290
genes like me logo Genes that share ontologies with TGFBRAP1: view

No data available for SIGNOR curated interactions for TGFBRAP1 Gene

Drugs & Compounds for TGFBRAP1 Gene

No Compound Related Data Available

Transcripts for TGFBRAP1 Gene

Unigene Clusters for TGFBRAP1 Gene

Transforming growth factor, beta receptor associated protein 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TGFBRAP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TGFBRAP1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1:
SP2:

Relevant External Links for TGFBRAP1 Gene

GeneLoc Exon Structure for
TGFBRAP1
ECgene alternative splicing isoforms for
TGFBRAP1

Expression for TGFBRAP1 Gene

mRNA expression in normal human tissues for TGFBRAP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TGFBRAP1 Gene

This gene is overexpressed in Lymph node (10.2), Frontal cortex (8.7), and Peripheral blood mononuclear cells (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TGFBRAP1 Gene



SOURCE GeneReport for Unigene cluster for TGFBRAP1 Gene Hs.446350

genes like me logo Genes that share expression patterns with TGFBRAP1: view

Protein tissue co-expression partners for TGFBRAP1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TGFBRAP1 Gene

Orthologs for TGFBRAP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TGFBRAP1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TGFBRAP1 35
  • 83.16 (n)
  • 86.61 (a)
TGFBRAP1 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBRAP1 35
  • 86.73 (n)
  • 89.29 (a)
TGFBRAP1 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfbrap1 35
  • 85.85 (n)
  • 89.3 (a)
Tgfbrap1 16
Tgfbrap1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TGFBRAP1 35
  • 99.42 (n)
  • 99.53 (a)
TGFBRAP1 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGFBRAP1 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFBRAP1 36
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFBRAP1 35
  • 74.35 (n)
  • 78.93 (a)
TGFBRAP1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFBRAP1 36
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfbrap1 35
  • 65.17 (n)
  • 67.53 (a)
zebrafish
(Danio rerio)
Actinopterygii tgfbrap1 35
  • 65.6 (n)
  • 63.95 (a)
tgfbrap1 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7146 36
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-39 36
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VAM6 36
  • 11 (a)
OneToMany
Species with no ortholog for TGFBRAP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TGFBRAP1 Gene

ENSEMBL:
Gene Tree for TGFBRAP1 (if available)
TreeFam:
Gene Tree for TGFBRAP1 (if available)

Paralogs for TGFBRAP1 Gene

Paralogs for TGFBRAP1 Gene

genes like me logo Genes that share paralogs with TGFBRAP1: view

Variants for TGFBRAP1 Gene

Sequence variations from dbSNP and Humsavar for TGFBRAP1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs873738 -- 105,308,624(+) GCTCC(C/T)GGGAG intron-variant, upstream-variant-2KB
rs893248 -- 105,303,259(+) acctc(A/G)tttct intron-variant
rs893249 -- 105,308,854(-) TGACT(A/G)AAGTG intron-variant, upstream-variant-2KB
rs920217 -- 105,288,205(+) AAATA(C/T)CACAG intron-variant
rs934710 -- 105,290,285(+) TGGTC(C/T)GGAAC intron-variant

Variation tolerance for TGFBRAP1 Gene

Residual Variation Intolerance Score: 3.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TGFBRAP1 Gene

HapMap Linkage Disequilibrium report
TGFBRAP1
Human Gene Mutation Database (HGMD)
TGFBRAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TGFBRAP1 Gene

Disorders for TGFBRAP1 Gene

Relevant External Links for TGFBRAP1

Genetic Association Database (GAD)
TGFBRAP1
Human Genome Epidemiology (HuGE) Navigator
TGFBRAP1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TGFBRAP1
genes like me logo Genes that share disorders with TGFBRAP1: view

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TGFBRAP1 Gene

Publications for TGFBRAP1 Gene

  1. Transforming growth factor-beta receptor-associated protein 1 is a Smad4 chaperone. (PMID: 11278302) Wurthner J.U. … Roberts A.B. (J. Biol. Chem. 2001) 2 23 67
  2. A novel protein distinguishes between quiescent and activated forms of the type I transforming growth factor beta receptor. (PMID: 9545258) Charng M.-J. … Schneider M.D. (J. Biol. Chem. 1998) 2 67
  3. Missense mutations of the transforming growth factor beta type II receptor in human head and neck squamous carcinoma cells. (PMID: 7664267) Garrigue-Antar L. … Reiss M. (Cancer Res. 1995) 23 67
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  5. Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations. (PMID: 25266290) Perini E.D. … Zerial M. (Traffic 2014) 67

Products for TGFBRAP1 Gene

Sources for TGFBRAP1 Gene

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