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    Gbf1 golgi-specific brefeldin A-resistance factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 107338, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Gbf1provided by MGI
    Official Full Name
    golgi-specific brefeldin A-resistance factor 1provided by MGI
    Primary source
    MGI:MGI:1861607
    See related
    Ensembl:ENSMUSG00000025224 AllianceGenome:MGI:1861607
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    mKIAA0248; 1700083E03Rik
    Summary
    Predicted to enable phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,5-bisphosphate binding activity. Predicted to be involved in several processes, including Golgi disassembly; Golgi vesicle transport; and protein localization to organelle. Predicted to be located in several cellular components, including Golgi apparatus; endoplasmic reticulum lumen; and endoplasmic reticulum-Golgi intermediate compartment. Is expressed in brain; embryo; and head. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate A. Orthologous to human GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 37.5), duodenum adult (RPKM 22.5) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gbf1 in Genome Data Viewer
    Location:
    19 C3; 19 38.75 cM
    Exon count:
    41
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 19 NC_000085.7 (46140948..46274949)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 19 NC_000085.6 (46152509..46286510)

    Chromosome 19 - NC_000085.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E7666 Neighboring gene nucleolar and coiled-body phosphoprotein 1 Neighboring gene STARR-positive B cell enhancer ABC_E11034 Neighboring gene STARR-positive B cell enhancer ABC_E101 Neighboring gene ELOVL fatty acid elongase 3 Neighboring gene paired-like homeodomain transcription factor 3 Neighboring gene U1 small nuclear ribonucleoprotein C pseudogene Neighboring gene STARR-seq mESC enhancer starr_46298 Neighboring gene STARR-positive B cell enhancer ABC_E11035 Neighboring gene STARR-seq mESC enhancer starr_46300 Neighboring gene RIKEN cDNA 4833438C02 gene Neighboring gene STARR-positive B cell enhancer ABC_E9457 Neighboring gene nuclear factor of kappa light polypeptide gene enhancer in B cells 2, p49/p100 Neighboring gene pleckstrin and Sec7 domain containing

    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 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. Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF-GEFs. Walton K, et al. FEBS Lett, 2020 Jul. PMID 32333796
    2. The membrane-tethering protein p115 interacts with GBF1, an ARF guanine-nucleotide-exchange factor. García-Mata R, et al. EMBO Rep, 2003 Mar. PMID 12634853, Free PMC Article
    3. The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN). Lowery J, et al. J Biol Chem, 2013 Apr 19. PMID 23386609, Free PMC Article
    4. Development of monoclonal antibodies against GBF1 and their use in studying its functions. Roy SK, et al. J Interferon Cytokine Res, 2005 Nov. PMID 16318580
    5. Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Semina EV, et al. Hum Mol Genet, 2000 Jul 1. PMID 10861284

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF-GEFs.
      Title: Regulating the regulators: role of phosphorylation in modulating the function of the GBF1/BIG family of Sec7 ARF-GEFs.
    2. an early acting GEF (GBF1) activates ARFs that mediate recruitment of late acting GEFs (BIG1/2) to coordinate coating events within the pre-Golgi/Golgi/TGN continuum.
      Title: The Sec7 guanine nucleotide exchange factor GBF1 regulates membrane recruitment of BIG1 and BIG2 guanine nucleotide exchange factors to the trans-Golgi network (TGN).
    3. novel interaction between p115 and Golgi-specific brefeldin-A-resistant factor 1 (GBF1)
      Title: The membrane-tethering protein p115 interacts with GBF1, an ARF guanine-nucleotide-exchange factor.
    4. GBF1 is recruited to the endogenous IRF-9 promoter, and interacts with C/EBP-beta, IL-1, and IL-6
      Title: Development of monoclonal antibodies against GBF1 and their use in studying its functions.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC90745, MGC100238

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol-3,4,5-trisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-3,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in COPI coating of Golgi vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Golgi disassembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Golgi organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in Golgi to endosome transport ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cell activation involved in immune response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to virus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum-Golgi intermediate compartment organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in establishment of monopolar cell polarity ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in neutrophil chemotaxis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to endoplasmic reticulum exit site ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein localization to endoplasmic reticulum tubular network ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reactive oxygen species biosynthetic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of mitotic cell cycle ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein localization to cell surface ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde transport, endosome to Golgi ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in Golgi stack IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in Golgi stack ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cell leading edge ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cis-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum lumen ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-Golgi intermediate compartment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in peroxisome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1
    Names
    BFA-resistant GEF 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_178930.3 → NP_849261.2  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1

      See identical proteins and their annotated locations for NP_849261.2

      Status: PROVISIONAL

      Source sequence(s)
      BC076569
      Consensus CDS
      CCDS29873.1
      UniProtKB/Swiss-Prot
      Q6DFZ1
      UniProtKB/TrEMBL
      Q6A099
      Related
      ENSMUSP00000026254.8, ENSMUST00000026254.14
      Conserved Domains (2) summary
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain
      pfam12783
      Location:400 → 545
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    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_000085.7 Reference GRCm39 C57BL/6J

      Range
      46140948..46274949
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006526582.4 → XP_006526645.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X3

      UniProtKB/TrEMBL
      Q6A099
      Related
      ENSMUST00000176992.8
      Conserved Domains (4) summary
      PHA03247
      Location:1725 → 1855
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:483 → 1002
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain
      pfam12783
      Location:400 → 545
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    2. XM_006526580.4 → XP_006526643.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X1

      UniProtKB/TrEMBL
      Q6A099
      Conserved Domains (4) summary
      PHA03247
      Location:1730 → 1860
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:484 → 1003
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:700 → 885
      Sec7; Sec7 domain
      pfam12783
      Location:401 → 546
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    3. XM_006526581.4 → XP_006526644.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X2

      UniProtKB/TrEMBL
      Q6A099
      Conserved Domains (4) summary
      PHA03247
      Location:1726 → 1856
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:484 → 1003
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:700 → 885
      Sec7; Sec7 domain
      pfam12783
      Location:401 → 546
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    4. XM_006526583.3 → XP_006526646.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X4

      Conserved Domains (3) summary
      PHA03247
      Location:979 → 1109
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:20 → 412
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:16 → 134
      Sec7; Sec7 domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6DFZ1.1 GenPept UniProtKB/Swiss-Prot:Q6DFZ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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