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Aliases for GBF1 Gene

Aliases for GBF1 Gene

  • Golgi Brefeldin A Resistant Guanine Nucleotide Exchange Factor 1 2 3 5
  • 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

Previous GeneCards Identifiers for GBF1 Gene

  • GC10P102898
  • GC10P103238
  • GC10P104136
  • GC10P103669
  • GC10P103995
  • GC10P097637

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. Diseases associated with GBF1 include Legionnaires' Disease and Periventricular Nodular Heterotopia. Among its related pathways are Clathrin derived vesicle budding and Transport to the Golgi and subsequent modification. Gene Ontology (GO) annotations related to this gene include binding and ARF guanyl-nucleotide exchange factor activity.

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 endoplasmic 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

Additional gene information for GBF1 Gene

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

Genomics for GBF1 Gene

GeneHancer (GH) Regulatory Elements for GBF1 Gene

Promoters and enhancers for GBF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I102244 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 560.5 +0.2 229 2.7 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B GBF1 PPRC1 POLL PITX3 BORCS7 RPARP-AS1 KCNIP2 WBP1L GC10P102286
GH10I102243 Enhancer 0.6 ENCODE 550.8 -2.0 -1999 0.2 JUND JUN HLF CEBPA CEBPB FOS CEBPG EP300 GBF1 PITX3
GH10I101828 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 71.2 -414.5 -414515 4.4 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A ZNF2 ZBTB7B ZNF766 ZNF302 PPRC1 LDB1 GBF1 LZTS2 MRPL43 HPS6 NOLC1 SUFU ENSG00000272572 KCNIP2-AS1
GH10I101692 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 32.7 -551.2 -551151 3.1 HDGF ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 SP3 SP5 FBXW4 PPRC1 GBF1 MRPL43 LDB1 ENSG00000272572 HPS6 TWNK SUFU LZTS2
GH10I101814 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.4 -428.4 -428389 5.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARNT ARID4B NEUROD1 SIN3A MGEA5 KCNIP2-AS1 PPRC1 HPS6 LDB1 GBF1 MRPL43 TWNK SUFU NPM3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GBF1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GBF1 gene promoter:

Genomic Locations for GBF1 Gene

Genomic Locations for GBF1 Gene
chr10:102,245,498-102,382,899
(GRCh38/hg38)
Size:
137,402 bases
Orientation:
Plus strand
chr10:104,005,255-104,142,656
(GRCh37/hg19)

Genomic View for GBF1 Gene

Genes around GBF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GBF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GBF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

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.
  • Ubiquitination at isoforms=2, 3953
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for GBF1 Gene

Domains & Families for GBF1 Gene

Gene Families for GBF1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for GBF1 Gene

Graphical View of Domain Structure for InterPro Entry

Q92538

UniProtKB/Swiss-Prot:

GBF1_HUMAN :
  • 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).
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).
genes like me logo Genes that share domains with GBF1: view

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 endoplasmic 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).

Phenotypes From GWAS Catalog for GBF1 Gene

Gene Ontology (GO) - Molecular Function for GBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity TAS --
GO:0005086 ARF guanyl-nucleotide exchange factor activity IBA,TAS --
GO:0005515 protein binding IPI 17956946
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA 22573891
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with GBF1: view
genes like me logo Genes that share phenotypes with GBF1: view

Animal Models for GBF1 Gene

MGI Knock Outs for GBF1:
  • Gbf1 tm1a(KOMP)Wtsi

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GBF1 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
mitochondrion 3
peroxisome 3
endoplasmic reticulum 3
plasma membrane 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GBF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with GBF1: view

Pathways & Interactions for GBF1 Gene

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

Pathways by source for GBF1 Gene

SIGNOR curated interactions for GBF1 Gene

Is inactivated by:

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:0006810 transport IEA --
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER TAS --
GO:0006892 post-Golgi vesicle-mediated transport TAS --
genes like me logo Genes that share ontologies with GBF1: view

Drugs & Compounds for GBF1 Gene

(1) Drugs for GBF1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(3) Additional Compounds for GBF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for GBF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for GBF1 Gene

This gene is overexpressed in Bone (30.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GBF1 Gene



Protein tissue co-expression partners for GBF1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GBF1 Gene:

GBF1

SOURCE GeneReport for Unigene cluster for GBF1 Gene:

Hs.290243

mRNA Expression by UniProt/SwissProt for GBF1 Gene:

Q92538-GBF1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for GBF1 Gene

  • Nervous system(4.6)
  • Muscle(4.5)
  • Kidney(4.3)
  • Liver(4.3)
  • Bone marrow(4.2)
  • Blood(4.1)
  • Intestine(2.7)
  • Lung(2.7)
genes like me logo Genes that share expression patterns with GBF1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for GBF1 Gene

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 33 34
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia GBF1 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GBF1 33 34
  • 92.78 (n)
oppossum
(Monodelphis domestica)
Mammalia GBF1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gbf1 33 16 34
  • 89.69 (n)
rat
(Rattus norvegicus)
Mammalia Gbf1 33
  • 89.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GBF1 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves GBF1 33 34
  • 76.09 (n)
lizard
(Anolis carolinensis)
Reptilia GBF1 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gbf1 33
  • 72.1 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16761 33
zebrafish
(Danio rerio)
Actinopterygii GBF1 (1 of 2) 34
  • 75 (a)
OneToMany
GBF1 (2 of 2) 34
  • 75 (a)
OneToMany
si:dkey-183c23.1 33
  • 70.62 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001527 33
  • 55.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta garz 35 33 34
  • 54.14 (n)
worm
(Caenorhabditis elegans)
Secernentea gbf-1 33 34
  • 51.58 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GEA2 34 36
  • 24 (a)
ManyToMany
GEA1 34
  • 23 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons GN 33
  • 48.38 (n)
rice
(Oryza sativa)
Liliopsida Os03g0666100 33
  • 47.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 53 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1156 33
Species where no ortholog for GBF1 was found in the sources mined by GeneCards:
  • 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

(2) SIMAP similar genes for GBF1 Gene using alignment to 5 proteins:

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

No data available for Paralogs for GBF1 Gene

Variants for GBF1 Gene

Sequence variations from dbSNP and Humsavar for GBF1 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000018555 -- 102,337,050(+) A/T genic_upstream_transcript_variant, intron_variant
rs1000030706 -- 102,358,921(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000059136 -- 102,288,635(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000066281 -- 102,289,293(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000073720 -- 102,336,301(+) AAAAAAAAAAAAAAGAAAAAAAAAAAA/AAAAAAAAAAAA genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv2740217 CNV deletion 23290073
esv29423 CNV loss 19812545
nsv1159761 CNV deletion 26073780
nsv518095 CNV loss 19592680
nsv525546 CNV loss 19592680
nsv526665 CNV loss 19592680

Variation tolerance for GBF1 Gene

Residual Variation Intolerance Score: 0.807% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.20; 52.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GBF1 Gene

Human Gene Mutation Database (HGMD)
GBF1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GBF1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GBF1 Gene

Disorders for GBF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for GBF1 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
legionnaires' disease
  • infection by legionella pneumophilia
periventricular nodular heterotopia
  • periventricular heterotopia
- elite association - COSMIC cancer census association via MalaCards
Search GBF1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GBF1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GBF1: view

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

Publications for GBF1 Gene

  1. Distinct functions for Arf guanine nucleotide exchange factors at the Golgi complex: GBF1 and BIGs are required for assembly and maintenance of the Golgi stack and trans-Golgi network, respectively. (PMID: 18003980) Manolea F … Melançon P (Molecular biology of the cell 2008) 3 4 22 58
  2. AMP-activated protein kinase phosphorylates Golgi-specific brefeldin A resistance factor 1 at Thr1337 to induce disassembly of Golgi apparatus. (PMID: 18063581) Miyamoto T … Yonezawa K (The Journal of biological chemistry 2008) 3 4 22 58
  3. Rab1b interacts with GBF1 and modulates both ARF1 dynamics and COPI association. (PMID: 17429068) Monetta P … Alvarez C (Molecular biology of the cell 2007) 3 4 22 58
  4. The Arf GEF GBF1 is required for GGA recruitment to Golgi membranes. (PMID: 17666033) Lefrançois S … McCormick PJ (Traffic (Copenhagen, Denmark) 2007) 3 4 22 58
  5. GBF1, a cis-Golgi and VTCs-localized ARF-GEF, is implicated in ER-to-Golgi protein traffic. (PMID: 16926190) Zhao X … Melançon P (Journal of cell science 2006) 3 4 22 58

Products for GBF1 Gene

Sources for GBF1 Gene

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