• Gene id: 9392

Gene Summary

• Gene Symbol: TGFBRAP1   Gene   UCSC   Ensembl
• Aliases: TRAP-1, TRAP1, VPS3
• Gene name: transforming growth factor beta receptor associated protein 1
• Alternate names: transforming growth factor-beta receptor-associated protein 1, TGF-beta receptor-associated protein 1, VPS3 CORVET complex subunit,
• Gene location: 2q12.1-q12.2 (105329734: 105249407)     Exons: 14     NC_000002.12
• Gene summary(Entrez): 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 associati
• OMIM: 604255

Protein Summary

• Protein general information: Q8WUH2  
  • Name: Transforming growth factor beta receptor associated protein 1 (TGF beta receptor associated protein 1) (TRAP 1) (TRAP1)
  • Length: 860  
  • Mass: 97158
• Sequence:

  MMSIKAFTLVSAVERELLMGDKERVNIECVECCGRDLYVGTNDCFVYHFLLEERPVPAGPATFTATKQLQRHLGF
  KKPVNELRAASALNRLLVLCDNSISLVNMLNLEPVPSGARIKGAATFALNENPVSGDPFCVEVCIISVKRRTIQM
  FLVYEDRVQIVKEVSTAEQPLAVAVDGHFLCLALTTQYIIHNYSTGVSQDLFPYCSEERPPIVKRIGRQEFLLAG
  PGGLGMFATVAGISQRAPVHWSENVIGAAVSFPYVIALDDEFITVHSMLDQQQKQTLPFKEGHILQDFEGRVIVA
  TSKGVYILVPLPLEKQIQDLLASRRVEEALVLAKGARRNIPKEKFQVMYRRILQQAGFIQFAQLQFLEAKELFRS
  GQLDVRELISLYPFLLPTSSSFTRSHPPLHEYADLNQLTQGDQEKMAKCKRFLMSYLNEVRSTEVANGYKEDIDT
  ALLKLYAEADHDSLLDLLVTENFCLLTDSAAWLEKHKKYFALGLLYHYNNQDAAAVQLWVNIVNGDVQDSTRSDL
  YEYIVDFLTYCLDEELVWAYADWVLQKSEEVGVQVFTKRPLDEQQKNSFNPDDIINCLKKYPKALVKYLEHLVID
  KRLQKEEYHTHLAVLYLEEVLLQRASASGKGAEATETQAKLRRLLQKSDLYRVHFLLERLQGAGLPMESAILHGK
  LGEHEKALHILVHELQDFAAAEDYCLWCSEGRDPPHRQQLFHTLLAIYLHAGPTAHELAVAAVDLLNRHATEFDA
  AQVLQMLPDTWSVQLLCPFLMGAMRDSIHARRTMQVALGLARSENLIYTYDKMKLKGSSIQLSDKKLCQICQNPF
  CEPVFVRYPNGGLVHTHCAASRHTNPSSSSPGTRT

• Structural information:
  • Protein Domains: (24..29-)
    (/note="CNH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00795"-)
  • Interpro: IPR000547  IPR001180  IPR032914  IPR019452  IPR019453  
  • Prosite: PS50236 PS50219
  • STRING: ENSP00000377027
• Other Databases: GeneCards:  TGFBRAP1  Malacards:  TGFBRAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016192	vesicle-mediated transport	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0046332	SMAD binding	IBA	molecular function
GO:0005769	early endosome	IDA	cellular component
GO:0034058	endosomal vesicle fusion	IMP	biological process
GO:0008333	endosome to lysosome transport	IMP	biological process
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0033263	CORVET complex	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005160	transforming growth factor beta receptor binding	IDA	molecular function
GO:0046332	SMAD binding	IDA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq