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... See more...

Aliases for TGFBRAP1 Gene

Aliases for TGFBRAP1 Gene

  • Transforming Growth Factor Beta Receptor Associated Protein 1 2 3 5
  • Transforming Growth Factor-Beta Receptor-Associated Protein 1 3 4
  • TGF-Beta Receptor-Associated Protein 1 3 4
  • VPS3 CORVET Complex Subunit 2 3
  • TRAP-1 3 4
  • TRAP1 3 4
  • Transforming Growth Factor, Beta Receptor Associated Protein 1 2
  • VPS3 3

External Ids for TGFBRAP1 Gene

Previous GeneCards Identifiers for TGFBRAP1 Gene

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

Summaries for TGFBRAP1 Gene

Entrez Gene Summary for TGFBRAP1 Gene

  • 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]

GeneCards Summary for TGFBRAP1 Gene

TGFBRAP1 (Transforming Growth Factor Beta Receptor Associated Protein 1) is a Protein Coding gene. Diseases associated with TGFBRAP1 include Arthrogryposis, Renal Dysfunction, And Cholestasis 1. Among its related pathways are SMAD Signaling Network. Gene Ontology (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 Summary 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).

Additional gene information for TGFBRAP1 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TGFBRAP1 Gene

Genomics for TGFBRAP1 Gene

GeneHancer (GH) Regulatory Elements for TGFBRAP1 Gene

Promoters and enhancers for TGFBRAP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TGFBRAP1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TGFBRAP1

Top Transcription factor binding sites by QIAGEN in the TGFBRAP1 gene promoter:
  • E47
  • Evi-1
  • HFH-1
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b
  • Sox5
  • Zic1

Genomic Locations for TGFBRAP1 Gene

Genomic Locations for TGFBRAP1 Gene
chr2:105,249,404-105,329,735
(GRCh38/hg38)
Size:
80,332 bases
Orientation:
Minus strand
chr2:105,880,871-105,946,491
(GRCh37/hg19)
Size:
65,621 bases
Orientation:
Minus strand

Genomic View for TGFBRAP1 Gene

Genes around TGFBRAP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TGFBRAP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 vacuole/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

Post-translational modifications for TGFBRAP1 Gene

  • Ubiquitination at Lys370 and Lys630
  • 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

Gene Families for TGFBRAP1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TGFBRAP1 Gene

GenScript: Design optimal peptide antigens:
  • Transforming growth factor-beta receptor-associated protein 1 (TGFA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WUH2

UniProtKB/Swiss-Prot:

TGFA1_HUMAN :
  • Belongs to the TRAP1 family.
Family:
  • Belongs to the TRAP1 family.
genes like me logo Genes that share domains with TGFBRAP1: view

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).

Phenotypes From GWAS Catalog for TGFBRAP1 Gene

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TGFBRAP1 gene
Compartment Confidence
endosome 5
nucleus 2
cytosol 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TGFBRAP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005769 early endosome IDA,IEA 25266290
GO:0016020 membrane IDA 11278302
GO:0033263 CORVET complex IEA --
genes like me logo Genes that share ontologies with TGFBRAP1: view

Pathways & Interactions for TGFBRAP1 Gene

PathCards logo

SuperPathways for TGFBRAP1 Gene

SuperPathway Contained pathways
1 SMAD Signaling Network
-
genes like me logo Genes that share pathways with TGFBRAP1: view

Pathways by source for TGFBRAP1 Gene

1 Qiagen pathway for TGFBRAP1 Gene
  • SMAD Signaling Network

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 IBA,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

mRNA/cDNA for TGFBRAP1 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for TGFBRAP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for TGFBRAP1 Gene



Protein tissue co-expression partners for TGFBRAP1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TGFBRAP1

SOURCE GeneReport for Unigene cluster for TGFBRAP1 Gene:

Hs.446350

Evidence on tissue expression from TISSUES for TGFBRAP1 Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with TGFBRAP1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia TGFBRAP1 31 30
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TGFBRAP1 31 30
  • 86.73 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tgfbrap1 17 31 30
  • 85.85 (n)
oppossum
(Monodelphis domestica)
Mammalia TGFBRAP1 31
  • 85 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGFBRAP1 31 30
  • 83.16 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TGFBRAP1 31
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves TGFBRAP1 31 30
  • 74.35 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TGFBRAP1 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tgfbrap1 30
  • 65.17 (n)
zebrafish
(Danio rerio)
Actinopterygii tgfbrap1 31 30
  • 65.6 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7146 31
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea vps-39 31
  • 19 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VAM6 31
  • 11 (a)
OneToMany
Species where no ortholog for TGFBRAP1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TGFBRAP1: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TGFBRAP1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
708524 Benign: not provided 105,269,464(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
712358 Benign: not provided 105,307,807(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
712359 Benign: not provided 105,307,840(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
783337 Benign: not provided 105,296,492(-) G/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
786864 Benign: not provided 105,272,937(-) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TGFBRAP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for TGFBRAP1 Gene

Variant ID Type Subtype PubMed ID
nsv1012462 CNV gain 25217958
nsv1138825 CNV deletion 24896259
nsv582577 CNV loss 21841781

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)

Additional Variant Information for TGFBRAP1 Gene

Human Gene Mutation Database (HGMD)
TGFBRAP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TGFBRAP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TGFBRAP1 Gene

Disorders for TGFBRAP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TGFBRAP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
arthrogryposis, renal dysfunction, and cholestasis 1
  • arcs1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for TGFBRAP1

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

No data available for 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 JU … Roberts AB (The Journal of biological chemistry 2001) 2 3 4 23 54
  2. A novel protein distinguishes between quiescent and activated forms of the type I transforming growth factor beta receptor. (PMID: 9545258) Charng MJ … Schneider MD (The Journal of biological chemistry 1998) 2 3 4 54
  3. Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity. (PMID: 26463206) van der Kant R … Neefjes J (The Journal of biological chemistry 2015) 2 3 54
  4. Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations. (PMID: 25266290) Perini ED … Zerial M (Traffic (Copenhagen, Denmark) 2014) 3 4 54
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54

Products for TGFBRAP1 Gene

Sources for TGFBRAP1 Gene