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Aliases for GBF1 Gene

Aliases for GBF1 Gene

  • Golgi Brefeldin A Resistant Guanine Nucleotide Exchange Factor 1 2 3
  • BFA-Resistant GEF 1 3 4
  • Golgi-Specific Brefeldin A-Resistance Guanine Nucleotide Exchange Factor 1 3
  • Golgi-Specific Brefeldin A Resistance Factor 1 2
  • KIAA0248 4
  • ARF1GEF 3

External Ids for GBF1 Gene

Summaries for GBF1 Gene

Entrez Gene Summary for GBF1 Gene

  • 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]

GeneCards Summary for GBF1 Gene

GBF1 (Golgi Brefeldin A Resistant Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Among its related pathways are Arf1 pathway and COPI Mediated Transport. GO annotations related to this gene include ARF guanyl-nucleotide exchange factor activity. An important paralog of this gene is PSD4.

UniProtKB/Swiss-Prot for GBF1 Gene

  • Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmatic reticulum (ER) (PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:12047556, PubMed:12808027, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adaptor protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP (PubMed:17666033). Required for the assembly of the Golgi apparatus (PubMed:12808027, PubMed:18003980). The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891).

Gene Wiki entry for GBF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GBF1 Gene

Genomics for GBF1 Gene

Genomic Location for GBF1 Gene

Start:
102,245,498 bp from pter
End:
102,382,899 bp from pter
Size:
137,402 bases
Orientation:
Plus strand

Genomic View for GBF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for GBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GBF1 Gene

Regulatory Elements for GBF1 Gene

Proteins for GBF1 Gene

  • Protein details for GBF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92538-GBF1_HUMAN
    Recommended name:
    Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1
    Protein Accession:
    Q92538
    Secondary Accessions:
    • Q149P0
    • Q149P1
    • Q5VXX3
    • Q96CK6
    • Q96HZ3
    • Q9H473

    Protein attributes for GBF1 Gene

    Size:
    1859 amino acids
    Molecular mass:
    206446 Da
    Quaternary structure:
    • Can form homodimers and probably homotetramers (PubMed:17640864). Interacts with COPG1; the interaction is independent on ARF1 activation (PubMed:19039328). Interacts with ARF1, ARF3, ARF4 and ARF5 (PubMed:15616190, PubMed:17956946). Interacts with RAB1B (GTP-bound form); required for GBF1 membrane association (PubMed:17429068). Interacts with GGA1, GGA2 and GGA3 (PubMed:17666033). Interacts with USO1 (PubMed:12634853). Interacts (via SEC7 domain) with PNPLA2 (via C-terminus); the interaction is direct (PubMed:21789191). Interacts with poliovirus protein 3A (PubMed:17005635).
    SequenceCaution:
    • Sequence=BAA13379.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for GBF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GBF1 Gene

Proteomics data for GBF1 Gene at MOPED

Post-translational modifications for GBF1 Gene

  • AMPK-mediated phosphorylation at Thr-1337 is induced by 2-deoxyglucose (2-DG) and AICA ribonucleotide, and occurs during mitosis leading to membrane disassociation and inactivation of ARF1 during mitosis.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys953

Other Protein References for GBF1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for GBF1 Gene

Domains for GBF1 Gene

Protein Domains for GBF1 Gene

UniProtKB/Swiss-Prot:

GBF1_HUMAN
Domain:
  • The DCB (dimerization and cyclophiln-binding) and HUS (homology upstream of Sec7) domains are necessary for dimerization. The DCB domain is proposed to support constitutive homodimerization; the HUS domain interacts with the DCB domain which may occur intramolecular or intermolecuar (By similarity).:
    • Q92538
  • Contains 1 SEC7 domain.:
    • Q92538
genes like me logo Genes that share domains with GBF1: view

No data available for Gene Families for GBF1 Gene

Function for GBF1 Gene

Molecular function for GBF1 Gene

GENATLAS Biochemistry: Golgi specific brefeldin A resistance factor,housekeeping gene,predominantly expressed in testis and pancreas,Sec7 domain family
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by brefeldin A (BFA) (PubMed:15616190). Inhibited by golgicide A (GCA) (By similarity).
UniProtKB/Swiss-Prot Function: Guanine-nucleotide exchange factor (GEF) for members of the Arf family of small GTPases involved in trafficking in the early secretory pathway; its GEF activity initiates the coating of nascent vesicles via the localized generation of activated ARFs through replacement of GDP with GTP. Recruitment to cis-Golgi membranes requires membrane association of Arf-GDP and can be regulated by ARF1, ARF3, ARF4 and ARF5. Involved in the recruitment of the COPI coat complex to the endoplasmic reticulum exit sites (ERES), and the endoplasmic reticulum-Golgi intermediate (ERGIC) and cis-Golgi compartments which implicates ARF1 activation. Involved in COPI vesicle-dependent retrograde transport from the ERGIC and cis-Golgi compartments to the endoplasmatic reticulum (ER) (PubMed:16926190, PubMed:17956946, PubMed:18003980, PubMed:12047556, PubMed:12808027, PubMed:19039328, PubMed:24213530). Involved in the trans-Golgi network recruitment of GGA1, GGA2, GGA3, BIG1, BIG2, and the AP-1 adaptor protein complex related to chlathrin-dependent transport; the function requires its GEF activity (probably at least in part on ARF4 and ARF5) (PubMed:23386609). Has GEF activity towards ARF1 (PubMed:15616190). Has in vitro GEF activity towards ARF5 (By similarity). Involved in the processing of PSAP (PubMed:17666033). Required for the assembly of the Golgi apparatus (PubMed:12808027, PubMed:18003980). The AMPK-phosphorylated form is involved in Golgi disassembly during mitotis and under stress conditions (PubMed:18063581, PubMed:23418352). May be involved in the COPI vesicle-dependent recruitment of PNPLA2 to lipid droplets; however, this function is under debate (PubMed:19461073, PubMed:22185782). In neutrophils, involved in G protein-coupled receptor (GPCR)-mediated chemotaxis und superoxide production. Proposed to be recruited by phosphatidylinositol-phosphates generated upon GPCR stimulation to the leading edge where it recruits and activates ARF1, and is involved in recruitment of GIT2 and the NADPH oxidase complex (PubMed:22573891).

Gene Ontology (GO) - Molecular Function for GBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA --
GO:0005488 binding --
GO:0005515 protein binding IPI 17956946
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 22573891
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA 22573891
genes like me logo Genes that share ontologies with GBF1: view

Phenotypes for GBF1 Gene

MGI mutant phenotypes for GBF1:
inferred from 1 alleles
GenomeRNAi human phenotypes for GBF1:
genes like me logo Genes that share phenotypes with GBF1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for GBF1 Gene

Localization for GBF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GBF1 Gene

Golgi apparatus, cis-Golgi network. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatus, trans-Golgi network. Cytoplasm. Lipid droplet. Membrane; Peripheral membrane protein. Note=Cycles rapidly on and off early Golgi membranes (PubMed:15616190). Stabilized on membranes when complexed with ARF1-GDP and is released from both ARF1 and membranes after it catalyzes GDP displacement and ARF1 binds GTP. Continuous cycles of recruitment and dissociation of GBF1 to membranes are required for sustained ARF activation and COP I recruitment (PubMed:15813748). In neutrophils is translocated from the Golgi to the leading edge upon GPCR stimulation (PubMed:22573891). Localization to lipid droplets is questionable (PubMed:22185782). {ECO:0000269 PubMed:15616190, ECO:0000269 PubMed:22185782, ECO:0000269 PubMed:22573891, ECO:0000305 PubMed:15616190, ECO:0000305 PubMed:15813748}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GBF1 Gene COMPARTMENTS Subcellular localization image for GBF1 gene
Compartment Confidence
golgi apparatus 4
cytosol 2
endoplasmic reticulum 2
mitochondrion 2
peroxisome 2
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for GBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IDA 12047556
genes like me logo Genes that share ontologies with GBF1: view

Pathways for GBF1 Gene

genes like me logo Genes that share pathways with GBF1: view

Pathways by source for GBF1 Gene

Gene Ontology (GO) - Biological Process for GBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002263 cell activation involved in immune response IMP 22573891
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
GO:0006895 Golgi to endosome transport IMP 23386609
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with GBF1: view

Compounds for GBF1 Gene

(1) HMDB Compounds for GBF1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1

(3) Novoseek inferred chemical compound relationships for GBF1 Gene

Compound -log(P) Hits PubMed IDs
gdp 59 1
adp 57 3
gtp 53.3 3
genes like me logo Genes that share compounds with GBF1: view

Transcripts for GBF1 Gene

Unigene Clusters for GBF1 Gene

Golgi brefeldin A resistant guanine nucleotide exchange factor 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GBF1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^
SP1: - -
SP2: - -
SP3:
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29 ^ 30a · 30b · 30c ^ 31 ^ 32a · 32b · 32c ^ 33a · 33b · 33c ^ 34a · 34b ^ 35a · 35b ^ 36a · 36b ^
SP1: - - - - - - - -
SP2: - - - - - - -
SP3:
SP4:
SP5: - - -
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11:
SP12: - -
SP13: -
SP14:

ExUns: 37 ^ 38a · 38b ^ 39a · 39b ^ 40 ^ 41 ^ 42a · 42b
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:

Relevant External Links for GBF1 Gene

GeneLoc Exon Structure for
GBF1
ECgene alternative splicing isoforms for
GBF1

Expression for GBF1 Gene

mRNA expression in normal human tissues for GBF1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for GBF1 Gene

SOURCE GeneReport for Unigene cluster for GBF1 Gene Hs.290243

mRNA Expression by UniProt/SwissProt for GBF1 Gene

Q92538-GBF1_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with GBF1: view

Orthologs for GBF1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GBF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GBF1 36
  • 99.68 (n)
  • 99.57 (a)
GBF1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GBF1 37
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBF1 36
  • 92.78 (n)
  • 96.23 (a)
GBF1 37
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gbf1 36
  • 89.69 (n)
  • 93.96 (a)
Gbf1 16
Gbf1 37
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GBF1 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GBF1 37
  • 82 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gbf1 36
  • 89.51 (n)
  • 93.85 (a)
chicken
(Gallus gallus)
Aves GBF1 36
  • 76.09 (n)
  • 84.34 (a)
GBF1 37
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GBF1 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.16761 36
tropical clawed frog
(Silurana tropicalis)
Amphibia gbf1 36
  • 72.1 (n)
  • 80.1 (a)
zebrafish
(Danio rerio)
Actinopterygii GBF1 (1 of 2) 37
  • 75 (a)
OneToMany
GBF1 (2 of 2) 37
  • 75 (a)
OneToMany
si:dkey-183c23.1 36
  • 70.62 (n)
  • 77.13 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001527 36
  • 55.11 (n)
  • 50.15 (a)
fruit fly
(Drosophila melanogaster)
Insecta garz 36
  • 54.14 (n)
  • 48.82 (a)
garz 37
  • 41 (a)
OneToOne
garz 38
  • 44 (a)
worm
(Caenorhabditis elegans)
Secernentea gbf-1 36
  • 51.58 (n)
  • 46.44 (a)
gbf-1 37
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEA1 37
  • 23 (a)
ManyToMany
GEA2 37
  • 24 (a)
ManyToMany
GEA2 39
thale cress
(Arabidopsis thaliana)
eudicotyledons GN 36
  • 48.38 (n)
  • 39.9 (a)
rice
(Oryza sativa)
Liliopsida Os03g0666100 36
  • 47.77 (n)
  • 38.43 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1156 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 53 (a)
OneToOne
Species with no ortholog for GBF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GBF1 Gene

ENSEMBL:
Gene Tree for GBF1 (if available)
TreeFam:
Gene Tree for GBF1 (if available)

Paralogs for GBF1 Gene

Paralogs for GBF1 Gene

Selected SIMAP similar genes for GBF1 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GBF1: view

Variants for GBF1 Gene

Sequence variations from dbSNP and Humsavar for GBF1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs765065 -- 102,375,950(+) TCCCA(A/G)AAACT intron-variant
rs772008 -- 102,307,266(-) GAGGC(C/T)CTTGG intron-variant
rs772009 -- 102,306,883(-) ATGGA(C/T)CAGTT intron-variant
rs772010 -- 102,305,128(-) CCATT(C/G)CTGGA intron-variant
rs772011 -- 102,305,089(-) CTTCT(G/T)GAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for GBF1 Gene

Variant ID Type Subtype PubMed ID
esv29423 CNV Loss 19812545
nsv518095 CNV Loss 19592680
esv2740217 CNV Deletion 23290073
nsv526665 CNV Loss 19592680
nsv525546 CNV Loss 19592680
nsv895970 CNV Loss 21882294

Relevant External Links for GBF1 Gene

HapMap Linkage Disequilibrium report
GBF1

Disorders for GBF1 Gene

Relevant External Links for GBF1

Genetic Association Database (GAD)
GBF1
Human Genome Epidemiology (HuGE) Navigator
GBF1
genes like me logo Genes that share disorders with GBF1: view

No data available for UniProtKB/Swiss-Prot for GBF1 Gene

Publications for GBF1 Gene

  1. ADP-ribosylation factor/COPI-dependent events at the endoplasmic reticulum-Golgi interface are regulated by the guanine nucleotide exchange factor GBF1. (PMID: 12808027) GarcA-a-Mata R. … Sztul E. (Mol. Biol. Cell 2003) 3 4 23
  2. Dynamics of GBF1, a Brefeldin A-sensitive Arf1 exchange factor at the Golgi. (PMID: 15616190) Niu T.K. … Jackson C.L. (Mol. Biol. Cell 2005) 3 4 23
  3. Dissection of membrane dynamics of the ARF-guanine nucleotide exchange factor GBF1. (PMID: 15813748) Szul T. … Sztul E. (Traffic 2005) 3 4 23
  4. GBF1, a cis-Golgi and VTCs-localized ARF-GEF, is implicated in ER-to-Golgi protein traffic. (PMID: 16926190) Zhao X. … MelanAson P. (J. Cell. Sci. 2006) 3 4 23
  5. Rab1b interacts with GBF1 and modulates both ARF1 dynamics and COPI association. (PMID: 17429068) Monetta P. … Alvarez C. (Mol. Biol. Cell 2007) 3 4 23

Products for GBF1 Gene

Sources for GBF1 Gene

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