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    Tgfbrap1 transforming growth factor, beta receptor associated protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 73122, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Tgfbrap1provided by MGI
    Official Full Name
    transforming growth factor, beta receptor associated protein 1provided by MGI
    Primary source
    MGI:MGI:2447427
    See related
    Ensembl:ENSMUSG00000070939 AllianceGenome:MGI:2447427
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Trap1; 3110018K12Rik
    Summary
    Predicted to enable SMAD binding activity and transforming growth factor beta receptor binding activity. Predicted to be involved in several processes, including endosomal vesicle fusion; endosome to lysosome transport; and regulation of DNA-templated transcription. Part of CORVET complex. Is expressed in several structures, including gonad; gut; hemolymphoid system; liver; and lung. Orthologous to human TGFBRAP1 (transforming growth factor beta receptor associated protein 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 11.7), lung adult (RPKM 11.1) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tgfbrap1 in Genome Data Viewer
    Location:
    1 B; 1 22.13 cM
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (43086360..43137788, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (43047200..43098712, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39633 Neighboring gene G protein-coupled receptor 45 Neighboring gene STARR-seq mESC enhancer starr_00772 Neighboring gene DnaJ (Hsp40) homolog, subfamily A, member 1 pseudogene Neighboring gene predicted gene 28782 Neighboring gene RIKEN cDNA 8430432A02 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:43155317-43155426 Neighboring gene expressed sequence AI597479 Neighboring gene STARR-seq mESC enhancer starr_00773 Neighboring gene STARR-seq mESC enhancer starr_00774 Neighboring gene four and a half LIM domains 2 Neighboring gene STARR-seq mESC enhancer starr_00775 Neighboring gene 60S ribosomal protein L29

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. The TGF-β signaling modulators TRAP1/TGFBRAP1 and VPS39/Vam6/TLP are essential for early embryonic development. Messler S, et al. Immunobiology, 2011 Mar. PMID 20961651
    2. VPS39-deficiency observed in type 2 diabetes impairs muscle stem cell differentiation via altered autophagy and epigenetics. Davegårdh C, et al. Nat Commun, 2021 Apr 23. PMID 33893273, Free PMC Article
    3. Chromogranin A regulates renal function by triggering Weibel-Palade body exocytosis. Chen Y, et al. J Am Soc Nephrol, 2009 Jul. PMID 19520754, Free PMC Article
    4. The Fn14 cytoplasmic tail binds tumour-necrosis-factor-receptor-associated factors 1, 2, 3 and 5 and mediates nuclear factor-kappaB activation. Brown SA, et al. Biochem J, 2003 Apr 15. PMID 12529173, Free PMC Article
    5. Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations. Perini ED, et al. Traffic, 2014 Dec. PMID 25266290

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. our data indicate that TRAP1 and VPS39 are nonredundant and essentially required for early embryonic development
      Title: The TGF-β signaling modulators TRAP1/TGFBRAP1 and VPS39/Vam6/TLP are essential for early embryonic development.
    2. CHGA triggered secretion of endothelin-1 from glomerular endothelial cells and TGF-beta1 from mesangial cells cocultured with glomerular endothelial cells.
      Title: Chromogranin A regulates renal function by triggering Weibel-Palade body exocytosis.
    3. The Fn14 cytoplasmic tail binds this protein and mediates nuclear factor-kappaB activation.
      Title: The Fn14 cytoplasmic tail binds tumour-necrosis-factor-receptor-associated factors 1, 2, 3 and 5 and mediates nuclear factor-kappaB activation.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SMAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables SMAD binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transforming growth factor beta receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables transforming growth factor beta receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in autophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endosomal vesicle fusion IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endosomal vesicle fusion ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endosome to lysosome transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endosome to lysosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intracellular protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-templated transcription ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of CORVET complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in early endosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in intracellular membrane-bounded organelle ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    transforming growth factor-beta receptor-associated protein 1
    Names
    TGF beta receptor associated protein 1
    TRAP-1
    tansforming growth factor, beta receptor associated protein 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001013025.3 → NP_001013043.1  transforming growth factor-beta receptor-associated protein 1

      See identical proteins and their annotated locations for NP_001013043.1

      Status: VALIDATED

      Source sequence(s)
      AC112941, BC072608, BP753627
      Consensus CDS
      CCDS14920.1
      UniProtKB/Swiss-Prot
      Q3UR70, Q8BKN4
      Related
      ENSMUSP00000092624.2, ENSMUST00000095014.8
      Conserved Domains (4) summary
      pfam00637
      Location:585 → 699
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:448 → 550
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:738 → 846
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:34 → 283
      CNH; CNH domain

    2. NM_001357299.1 → NP_001344228.1  transforming growth factor-beta receptor-associated protein 1

      Status: VALIDATED

      Source sequence(s)
      AC112941
      Consensus CDS
      CCDS14920.1
      UniProtKB/Swiss-Prot
      Q3UR70, Q8BKN4
      Related
      ENSMUSP00000140132.2, ENSMUST00000186694.7
      Conserved Domains (4) summary
      pfam00637
      Location:585 → 699
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:448 → 550
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:738 → 846
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:34 → 283
      CNH; CNH domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      43086360..43137788 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030243152.2 → XP_030099012.1  transforming growth factor-beta receptor-associated protein 1 isoform X3

      UniProtKB/Swiss-Prot
      Q3UR70, Q8BKN4
      Conserved Domains (4) summary
      pfam00637
      Location:585 → 699
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:448 → 550
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:738 → 846
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:34 → 283
      CNH; CNH domain

    2. XM_011238604.4 → XP_011236906.1  transforming growth factor-beta receptor-associated protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011236906.1

      Conserved Domains (4) summary
      pfam00637
      Location:593 → 707
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:456 → 558
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:746 → 854
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:42 → 291
      CNH; CNH domain

    3. XM_036153757.1 → XP_036009650.1  transforming growth factor-beta receptor-associated protein 1 isoform X4

      Conserved Domains (3) summary
      pfam10366
      Location:28 → 130
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam00637
      Location:165 → 279
      Clathrin; Region in Clathrin and VPS
      pfam10367
      Location:318 → 426
      Vps39_2; Vacuolar sorting protein 39 domain 2

    4. XM_006496303.4 → XP_006496366.1  transforming growth factor-beta receptor-associated protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006496366.1

      UniProtKB/Swiss-Prot
      Q3UR70, Q8BKN4
      Conserved Domains (4) summary
      pfam00637
      Location:585 → 699
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:448 → 550
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:738 → 846
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:34 → 283
      CNH; CNH domain

    5. XM_006496300.4 → XP_006496363.1  transforming growth factor-beta receptor-associated protein 1 isoform X1

      Conserved Domains (4) summary
      pfam00637
      Location:594 → 708
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:457 → 559
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:747 → 855
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:43 → 292
      CNH; CNH domain

    6. XM_006496302.5 → XP_006496365.1  transforming growth factor-beta receptor-associated protein 1 isoform X3

      See identical proteins and their annotated locations for XP_006496365.1

      UniProtKB/Swiss-Prot
      Q3UR70, Q8BKN4
      Conserved Domains (4) summary
      pfam00637
      Location:585 → 699
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:448 → 550
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:738 → 846
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:34 → 283
      CNH; CNH domain

    7. XM_011238603.4 → XP_011236905.1  transforming growth factor-beta receptor-associated protein 1 isoform X2

      See identical proteins and their annotated locations for XP_011236905.1

      Conserved Domains (4) summary
      pfam00637
      Location:593 → 707
      Clathrin; Region in Clathrin and VPS
      pfam10366
      Location:456 → 558
      Vps39_1; Vacuolar sorting protein 39 domain 1
      pfam10367
      Location:746 → 854
      Vps39_2; Vacuolar sorting protein 39 domain 2
      cl02434
      Location:42 → 291
      CNH; CNH domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UR70.1 GenPept UniProtKB/Swiss-Prot:Q3UR70

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