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

Gene ID: 8729, updated on 16-Oct-2021

Summary

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
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
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
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Genomic context

See GBF1 in Genome Data Viewer
Location:
10q24.32
Exon count:
42
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (102230643..102382899)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104005289..104142653)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene nucleolar and coiled-body phosphoprotein 1 Neighboring gene ELOVL fatty acid elongase 3 Neighboring gene paired like homeodomain 3 Neighboring gene uncharacterized LOC107984263 Neighboring gene nuclear factor kappa B subunit 2 Neighboring gene pleckstrin and Sec7 domain containing Neighboring gene F-box and leucine rich repeat protein 15

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21263, FLJ21500, KIAA0248, MGC134877, MGC134878

Gene Ontology Provided by GOA

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 catalytic activity 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 Golgi stack IEA
Inferred from Electronic Annotation
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 lumen IEA
Inferred from Electronic Annotation
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 mitochondrion IEA
Inferred from Electronic Annotation
more info
 
located_in peroxisome IEA
Inferred from Electronic Annotation
more info
 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1
Names
BFA-resistant GEF 1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001199378.2NP_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
    UniProtKB/Swiss-Prot
    Q92538
    Related
    ENSP00000503428.1, ENST00000677240.1
    Conserved Domains (3) summary
    PHA03247
    Location:17911854
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:4001003
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:700885
    Sec7; Sec7 domain
  2. NM_001199379.2NP_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
    UniProtKB/Swiss-Prot
    Q92538
    Related
    ENSP00000503918.1, ENST00000676993.1
    Conserved Domains (3) summary
    PHA03247
    Location:17901853
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:3991002
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:699884
    Sec7; Sec7 domain
  3. NM_001377137.1NP_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
    Related
    ENSP00000359000.4, ENST00000369983.4
    Conserved Domains (3) summary
    PHA03247
    Location:17951858
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:4001003
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:700885
    Sec7; Sec7 domain
  4. NM_001377138.1NP_001364067.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Related
    ENSP00000503565.1, ENST00000677439.1
    Conserved Domains (3) summary
    PHA03247
    Location:17781841
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:399990
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:687872
    Sec7; Sec7 domain
  5. NM_001377139.1NP_001364068.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Related
    ENSP00000502966.1, ENST00000678351.1
    Conserved Domains (4) summary
    PLN03076
    Location:5961080
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    PHA03247
    Location:16961759
    PHA03247; large tegument protein UL36; Provisional
    pfam01369
    Location:601786
    Sec7; Sec7 domain
    pfam12783
    Location:400468
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  6. NM_001377140.1NP_001364069.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Related
    ENSP00000502877.1, ENST00000677618.1
    Conserved Domains (4) summary
    PLN03076
    Location:5961080
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    PHA03247
    Location:16921755
    PHA03247; large tegument protein UL36; Provisional
    pfam01369
    Location:601786
    Sec7; Sec7 domain
    pfam12783
    Location:400468
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  7. NM_001377141.1NP_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
    Related
    ENSP00000503207.1, ENST00000676513.1
    Conserved Domains (3) summary
    PHA03247
    Location:17941857
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:3991002
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:699884
    Sec7; Sec7 domain
  8. NM_001391922.1NP_001378851.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 8

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:18231886
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:4321035
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:732917
    Sec7; Sec7 domain
  9. NM_001391923.1NP_001378852.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:17911854
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:4001003
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:700885
    Sec7; Sec7 domain
  10. NM_001391924.1NP_001378853.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:17901853
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:3991002
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:699884
    Sec7; Sec7 domain
  11. NM_001391925.1NP_001378854.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 9

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:17821845
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:399990
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:687872
    Sec7; Sec7 domain
  12. NM_001391926.1NP_001378855.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 10

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:17791842
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:400991
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:688873
    Sec7; Sec7 domain
  13. NM_001391927.1NP_001378856.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 11

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:17471810
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:3991002
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:699884
    Sec7; Sec7 domain
  14. NM_001391928.1NP_001378857.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 12

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:17431806
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:399955
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:652837
    Sec7; Sec7 domain
  15. NM_001391929.1NP_001378858.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 13

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (4) summary
    PLN03076
    Location:14571531
    PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
    PHA03247
    Location:17111774
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:399959
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:699881
    Sec7; Sec7 domain
  16. NM_001391930.1NP_001378859.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 14

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Related
    ENSP00000504214.1, ENST00000679238.1
    Conserved Domains (3) summary
    PHA03247
    Location:16961759
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:3991002
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:699884
    Sec7; Sec7 domain
  17. NM_001391931.1NP_001378860.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform 15

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
    Conserved Domains (3) summary
    PHA03247
    Location:16641727
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:357876
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:573758
    Sec7; Sec7 domain
  18. NM_004193.3NP_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/Swiss-Prot
    Q92538
    Related
    ENSP00000503981.1, ENST00000676939.1
    Conserved Domains (3) summary
    PHA03247
    Location:17941857
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:3991002
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    pfam01369
    Location:699884
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    102230643..102382899
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718047.2XP_006718110.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X1

    Conserved Domains (2) summary
    pfam01369
    Location:733918
    Sec7; Sec7 domain
    pfam12783
    Location:434579
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  2. XM_006718049.2XP_006718112.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X3

    Conserved Domains (2) summary
    pfam01369
    Location:733918
    Sec7; Sec7 domain
    pfam12783
    Location:434579
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  3. XM_011540312.2XP_011538614.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X9

    Conserved Domains (2) summary
    pfam01369
    Location:686871
    Sec7; Sec7 domain
    pfam12783
    Location:434579
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  4. XM_006718050.2XP_006718113.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X5

    Conserved Domains (2) summary
    pfam01369
    Location:721906
    Sec7; Sec7 domain
    pfam12783
    Location:434579
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  5. XM_017016862.2XP_016872351.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X6

  6. XM_006718048.2XP_006718111.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X2

    Related
    ENSP00000501233.1, ENST00000673650.1
    Conserved Domains (2) summary
    pfam01369
    Location:732917
    Sec7; Sec7 domain
    pfam12783
    Location:433578
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  7. XM_017016861.2XP_016872350.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X4

    Related
    ENSP00000501064.1, ENST00000674034.1
  8. XM_011540313.2XP_011538615.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X10

    Conserved Domains (2) summary
    pfam01369
    Location:733918
    Sec7; Sec7 domain
    pfam12783
    Location:434579
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  9. XM_011540314.2XP_011538616.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X11

    Conserved Domains (3) summary
    PHA03247
    Location:13511414
    PHA03247; large tegument protein UL36; Provisional
    COG5307
    Location:40559
    COG5307; Guanine-nucleotide exchange factor, contains Sec7 domain [General function prediction only]
    cd00171
    Location:256441
    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_001747252.2 RNA Sequence

  2. XR_001747253.2 RNA Sequence

  3. XR_001747254.2 RNA Sequence

    Related
    ENST00000676807.1
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