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    GBF1 golgi brefeldin A resistant guanine nucleotide exchange factor 1 [ Homo sapiens (human) ]

    Gene ID: 8729, updated on 3-Nov-2024

    Summary

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    Official Symbol
    GBF1provided by HGNC
    Official Full Name
    golgi brefeldin A resistant guanine nucleotide exchange factor 1provided by HGNC
    Primary source
    HGNC:HGNC:4181
    See related
    Ensembl:ENSG00000107862 MIM:603698; AllianceGenome:HGNC:4181
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMT2GG; CMTDI2; CMTDIA; ARF1GEF
    Summary
    This gene encodes a member of the Sec7 domain family. The encoded protein is a guanine nucleotide exchange factor that regulates the recruitment of proteins to membranes by mediating GDP to GTP exchange. The encoded protein is localized to the Golgi apparatus and plays a role in vesicular trafficking by activating ADP ribosylation factor 1. The encoded protein has also been identified as an important host factor for viral replication. Multiple transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Ubiquitous expression in testis (RPKM 18.0), brain (RPKM 12.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GBF1 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    43
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102230643..102382896)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103115630..103267847)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (103990400..104142653)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:103911632-103912831 Neighboring gene nucleolar and coiled-body phosphoprotein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2751 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:103989615-103989783 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2752 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3925 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3926 Neighboring gene ELOVL fatty acid elongase 3 Neighboring gene paired like homeodomain 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104029238-104029738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104029739-104030239 Neighboring gene Sharpr-MPRA regulatory region 13217 Neighboring gene Sharpr-MPRA regulatory region 15234 Neighboring gene uncharacterized LOC107984263 Neighboring gene MPRA-validated peak1080 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104147078-104147638 Neighboring gene NANOG hESC enhancer GRCh37_chr10:104151284-104151791 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:104151792-104152298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3929 Neighboring gene Sharpr-MPRA regulatory region 13585 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104160632-104161328 Neighboring gene Sharpr-MPRA regulatory region 3575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2757 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104169870-104170552 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104170553-104171234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2758 Neighboring gene nuclear factor kappa B subunit 2 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterization of class I and II ADP-ribosylation factors (Arfs) in live cells: GDP-bound class II Arfs associate with the ER-Golgi intermediate compartment independently of GBF1. Chun J, et al. Mol Biol Cell, 2008 Aug. PMID 18524849, Free PMC Article
    2. Dissection of membrane dynamics of the ARF-guanine nucleotide exchange factor GBF1. Szul T, et al. Traffic, 2005 May. PMID 15813748
    3. GBF1, a cis-Golgi and VTCs-localized ARF-GEF, is implicated in ER-to-Golgi protein traffic. Zhao X, et al. J Cell Sci, 2006 Sep 15. PMID 16926190
    4. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation. Mendoza-Ferreira N, et al. Am J Hum Genet, 2020 Oct 1. PMID 32937143, Free PMC Article
    5. Role of the Guanine Nucleotide Exchange Factor GBF1 in the Replication of RNA Viruses. Martínez JL, et al. Viruses, 2020 Jun 24. PMID 32599855, Free PMC Article

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Enterovirus 3A protein disrupts endoplasmic reticulum homeostasis through interaction with GBF1.
      Title: Enterovirus 3A protein disrupts endoplasmic reticulum homeostasis through interaction with GBF1.
    2. Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality.
      Title: Viral protein engagement of GBF1 induces host cell vulnerability through synthetic lethality.
    3. Src activates retrograde membrane traffic through phosphorylation of GBF1.
      Title: Src activates retrograde membrane traffic through phosphorylation of GBF1.
    4. Modeling the dynamic behaviors of the COPI vesicle formation regulators, the small GTPase Arf1 and its activating Sec7 guanine nucleotide exchange factor GBF1 on Golgi membranes.
      Title: Modeling the dynamic behaviors of the COPI vesicle formation regulators, the small GTPase Arf1 and its activating Sec7 guanine nucleotide exchange factor GBF1 on Golgi membranes.
    5. SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection.
      Title: SON DNA-binding protein mediates macrophage autophagy and responses to intracellular infection.
    6. SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.
      Title: SNPs in SNCA, MCCC1, DLG2, GBF1 and MBNL2 are associated with Parkinson's disease in southern Chinese population.
    7. Class II Arfs require a brefeldin-A-sensitive factor for Golgi association.
      Title: Class II Arfs require a brefeldin-A-sensitive factor for Golgi association.
    8. Role of the Guanine Nucleotide Exchange Factor GBF1 in the Replication of RNA Viruses.
      Title: Role of the Guanine Nucleotide Exchange Factor GBF1 in the Replication of RNA Viruses.
    9. De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
      Title: De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
    10. Rab18 plays a role upstream of the cytosolic lipolytic enzyme adipose triglyceride lipase (ATGL) and that recruitment of ATGL by Rab18 is mediated by elements of the Arf/GBF1 machinery. We find that Arf4-GFP is accumulated on the subset of lipid droplets associated with Rab18.
      Title: Rab18 regulates lipolysis via Arf/GBF1 and adipose triglyceride lipase.
    Submit: New GeneRIF Correction See all GeneRIFs (65)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Charcot-Marie-Tooth Disease, axonal, type 2GG
    MedGen: C5561933 OMIM: 606483 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ21263, FLJ21500, KIAA0248, MGC134877, MGC134878

    Gene Ontology Provided by GOA

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

    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_001199378.2 → NP_001186307.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses multiple alternate in-frame splice sites in the coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91330.1
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Related
      ENSP00000503428.1, ENST00000677240.1
      Conserved Domains (3) summary
      PHA03247
      Location:1791 → 1854
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:400 → 1003
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:700 → 885
      Sec7; Sec7 domain

    2. NM_001199379.2 → NP_001186308.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 3

      See identical proteins and their annotated locations for NP_001186308.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91333.1
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Related
      ENSP00000503918.1, ENST00000676993.1
      Conserved Domains (3) summary
      PHA03247
      Location:1790 → 1853
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 1002
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain

    3. NM_001377137.1 → NP_001364066.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (4).
      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91331.1
      UniProtKB/Swiss-Prot
      A0A7P0RGV0, Q149P0, Q149P1, Q5VXX3, Q92538, Q96CK6, Q96HZ3, Q9H473
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Related
      ENSP00000359000.4, ENST00000369983.5
      Conserved Domains (3) summary
      PHA03247
      Location:1795 → 1858
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:400 → 1003
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:700 → 885
      Sec7; Sec7 domain

    4. NM_001377138.1 → NP_001364067.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91332.1
      UniProtKB/TrEMBL
      A0A7I2V452, A0A7I2YQM2
      Related
      ENSP00000503565.1, ENST00000677439.1
      Conserved Domains (3) summary
      PHA03247
      Location:1778 → 1841
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 990
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:687 → 872
      Sec7; Sec7 domain

    5. NM_001377139.1 → NP_001364068.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91336.1
      UniProtKB/TrEMBL
      A0A7I2V2L5, A0A7I2YQM2
      Related
      ENSP00000502966.1, ENST00000678351.1
      Conserved Domains (4) summary
      PLN03076
      Location:596 → 1080
      PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
      PHA03247
      Location:1696 → 1759
      PHA03247; large tegument protein UL36; Provisional
      pfam01369
      Location:601 → 786
      Sec7; Sec7 domain
      pfam12783
      Location:400 → 468
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    6. NM_001377140.1 → NP_001364069.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91335.1
      UniProtKB/TrEMBL
      A0A7I2YQ65, A0A7I2YQM2
      Related
      ENSP00000502877.1, ENST00000677618.1
      Conserved Domains (4) summary
      PLN03076
      Location:596 → 1080
      PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
      PHA03247
      Location:1692 → 1755
      PHA03247; large tegument protein UL36; Provisional
      pfam01369
      Location:601 → 786
      Sec7; Sec7 domain
      pfam12783
      Location:400 → 468
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    7. NM_001377141.1 → NP_001364070.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variant 1, encodes isoform 1.
      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS7533.1
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Related
      ENSP00000503207.1, ENST00000676513.1
      Conserved Domains (3) summary
      PHA03247
      Location:1794 → 1857
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 1002
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain

    8. NM_001391922.1 → NP_001378851.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1823 → 1886
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:432 → 1035
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:732 → 917
      Sec7; Sec7 domain

    9. NM_001391923.1 → NP_001378852.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91330.1
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1791 → 1854
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:400 → 1003
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:700 → 885
      Sec7; Sec7 domain

    10. NM_001391924.1 → NP_001378853.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91333.1
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1790 → 1853
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 1002
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain

    11. NM_001391925.1 → NP_001378854.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1782 → 1845
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 990
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:687 → 872
      Sec7; Sec7 domain

    12. NM_001391926.1 → NP_001378855.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1779 → 1842
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:400 → 991
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:688 → 873
      Sec7; Sec7 domain

    13. NM_001391927.1 → NP_001378856.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1747 → 1810
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 1002
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain

    14. NM_001391928.1 → NP_001378857.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1743 → 1806
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 955
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:652 → 837
      Sec7; Sec7 domain

    15. NM_001391929.1 → NP_001378858.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (4) summary
      PLN03076
      Location:1457 → 1531
      PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
      PHA03247
      Location:1711 → 1774
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 959
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 881
      Sec7; Sec7 domain

    16. NM_001391930.1 → NP_001378859.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91334.1
      UniProtKB/TrEMBL
      A0A7I2V514, A0A7I2YQM2
      Related
      ENSP00000504214.1, ENST00000679238.1
      Conserved Domains (3) summary
      PHA03247
      Location:1696 → 1759
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 1002
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain

    17. NM_001391931.1 → NP_001378860.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (3) summary
      PHA03247
      Location:1664 → 1727
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:357 → 876
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:573 → 758
      Sec7; Sec7 domain

    18. NM_001411003.1 → NP_001397932.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91328.1
      UniProtKB/TrEMBL
      A0A669KB10
      Related
      ENSP00000501064.1, ENST00000674034.1

    19. NM_001411027.1 → NP_001397956.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS91329.1
      UniProtKB/TrEMBL
      A0A669KBG8
      Related
      ENSP00000501233.1, ENST00000673650.1

    20. NM_004193.3 → NP_004184.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 1

      See identical proteins and their annotated locations for NP_004184.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AL121928, AL160011, AL356420
      Consensus CDS
      CCDS7533.1
      UniProtKB/TrEMBL
      A0A7I2YQM2
      Related
      ENSP00000503981.1, ENST00000676939.1
      Conserved Domains (3) summary
      PHA03247
      Location:1794 → 1857
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:399 → 1002
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      pfam01369
      Location:699 → 884
      Sec7; Sec7 domain

    RNA

    1. NR_165085.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420

    2. NR_165086.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Related
      ENST00000677655.1

    3. NR_165087.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Related
      ENST00000676682.1

    4. NR_165088.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420

    5. NR_165089.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL121928, AL160011, AL356420
      Related
      ENST00000679155.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102230643..102382896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006718047.3 → XP_006718110.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X1

      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (2) summary
      pfam01369
      Location:733 → 918
      Sec7; Sec7 domain
      pfam12783
      Location:434 → 579
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    2. XM_006718049.3 → XP_006718112.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X2

      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (2) summary
      pfam01369
      Location:733 → 918
      Sec7; Sec7 domain
      pfam12783
      Location:434 → 579
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    3. XM_011540312.3 → XP_011538614.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X5

      UniProtKB/TrEMBL
      A0A7I2YQM2
      Conserved Domains (2) summary
      pfam01369
      Location:686 → 871
      Sec7; Sec7 domain
      pfam12783
      Location:434 → 579
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    4. XM_047425970.1 → XP_047281926.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X6

    5. XM_047425971.1 → XP_047281927.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X7

    6. XM_017016861.3 → XP_016872350.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X3

      UniProtKB/TrEMBL
      A0A7I2YQM2

    7. XM_047425969.1 → XP_047281925.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X4

    8. XM_047425972.1 → XP_047281928.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X8

    9. XM_047425974.1 → XP_047281930.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X10

    10. XM_047425973.1 → XP_047281929.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X9

    11. XM_011540313.3 → XP_011538615.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X12

      UniProtKB/TrEMBL
      A0A7I2V4K2
      Conserved Domains (2) summary
      pfam01369
      Location:733 → 918
      Sec7; Sec7 domain
      pfam12783
      Location:434 → 579
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

    12. XM_047425975.1 → XP_047281931.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X11

    13. XM_011540314.3 → XP_011538616.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X13

      Conserved Domains (3) summary
      PHA03247
      Location:1351 → 1414
      PHA03247; large tegument protein UL36; Provisional
      COG5307
      Location:40 → 559
      COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
      cd00171
      Location:256 → 441
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...

    RNA

    1. XR_001747253.3 RNA Sequence

      Related
      ENST00000676807.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      103115630..103267847
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367057.1 → XP_054223032.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X1

    2. XM_054367058.1 → XP_054223033.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X2

    3. XM_054367061.1 → XP_054223036.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X5

    4. XM_054367062.1 → XP_054223037.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X6

    5. XM_054367063.1 → XP_054223038.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X7

    6. XM_054367059.1 → XP_054223034.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X3

    7. XM_054367060.1 → XP_054223035.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X4

    8. XM_054367064.1 → XP_054223039.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X8

    9. XM_054367066.1 → XP_054223041.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X10

    10. XM_054367065.1 → XP_054223040.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X9

    11. XM_054367068.1 → XP_054223043.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X12

    12. XM_054367067.1 → XP_054223042.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X11

    13. XM_054367069.1 → XP_054223044.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X13

    RNA

    1. XR_008488306.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92538.3 GenPept UniProtKB/Swiss-Prot:Q92538

    Gene LinkOut

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