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GBF1 (golgi brefeldin A resistant guanine nucleotide exchange factor 1)

Identity

Alias_namesgolgi-specific brefeldin A resistance factor 1
Alias_symbol (synonym)KIAA0248
ARF1GEF
Other alias
HGNC (Hugo) GBF1
LocusID (NCBI) 8729
Atlas_Id 63723
Location 10q24.32  [Link to chromosome band 10q24]
Location_base_pair Starts at 102245498 and ends at 102382899 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APEX1 (14q11.2) / GBF1 (10q24.32)AS3MT (10q24.32) / GBF1 (10q24.32)GBF1 (10q24.32) / ARF3 (12q13.12)
GBF1 (10q24.32) / DENR (12q24.31)GBF1 (10q24.32) / GBF1 (10q24.32)INTS3 (1q21.3) / GBF1 (10q24.32)
NFKB2 (10q24.32) / GBF1 (10q24.32)PIM1 (6p21.2) / GBF1 (10q24.32)SUFU (10q24.32) / GBF1 (10q24.32)
SUFU GBF1NFKB2 GBF1AS3MT GBF1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GBF1   4181
Cards
Entrez_Gene (NCBI)GBF1  8729  golgi brefeldin A resistant guanine nucleotide exchange factor 1
AliasesARF1GEF
GeneCards (Weizmann)GBF1
Ensembl hg19 (Hinxton)ENSG00000107862 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000107862 [Gene_View]  chr10:102245498-102382899 [Contig_View]  GBF1 [Vega]
ICGC DataPortalENSG00000107862
TCGA cBioPortalGBF1
AceView (NCBI)GBF1
Genatlas (Paris)GBF1
WikiGenes8729
SOURCE (Princeton)GBF1
Genetics Home Reference (NIH)GBF1
Genomic and cartography
GoldenPath hg38 (UCSC)GBF1  -     chr10:102245498-102382899 +  10q24.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GBF1  -     10q24.32   [Description]    (hg19-Feb_2009)
EnsemblGBF1 - 10q24.32 [CytoView hg19]  GBF1 - 10q24.32 [CytoView hg38]
Mapping of homologs : NCBIGBF1 [Mapview hg19]  GBF1 [Mapview hg38]
OMIM603698   
Gene and transcription
Genbank (Entrez)AF068755 AI859700 AK024916 AK025153 AK025330
RefSeq transcript (Entrez)NM_001199378 NM_001199379 NM_004193
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GBF1
Cluster EST : UnigeneHs.290243 [ NCBI ]
CGAP (NCI)Hs.290243
Alternative Splicing GalleryENSG00000107862
Gene ExpressionGBF1 [ NCBI-GEO ]   GBF1 [ EBI - ARRAY_EXPRESS ]   GBF1 [ SEEK ]   GBF1 [ MEM ]
Gene Expression Viewer (FireBrowse)GBF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8729
GTEX Portal (Tissue expression)GBF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92538   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92538  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92538
Splice isoforms : SwissVarQ92538
PhosPhoSitePlusQ92538
Domaine pattern : Prosite (Expaxy)SEC7 (PS50190)   
Domains : Interpro (EBI)ARM-type_fold    Sec7_alpha_orthog    Sec7_dom    Sec7_N   
Domain families : Pfam (Sanger)Sec7 (PF01369)    Sec7_N (PF12783)   
Domain families : Pfam (NCBI)pfam01369    pfam12783   
Domain families : Smart (EMBL)Sec7 (SM00222)  
Conserved Domain (NCBI)GBF1
DMDM Disease mutations8729
Blocks (Seattle)GBF1
SuperfamilyQ92538
Human Protein AtlasENSG00000107862
Peptide AtlasQ92538
HPRD04740
IPIIPI00021954   IPI00983896   IPI00983220   
Protein Interaction databases
DIP (DOE-UCLA)Q92538
IntAct (EBI)Q92538
FunCoupENSG00000107862
BioGRIDGBF1
STRING (EMBL)GBF1
ZODIACGBF1
Ontologies - Pathways
QuickGOQ92538
Ontology : AmiGOGolgi membrane  cell activation involved in immune response  guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  protein binding  phosphatidylinositol-3,4,5-trisphosphate binding  mitochondrion  peroxisome  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  Golgi stack  cis-Golgi network  trans-Golgi network  lipid particle  cytosol  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  retrograde vesicle-mediated transport, Golgi to ER  post-Golgi vesicle-mediated transport  Golgi to endosome transport  Golgi organization  regulation of mitotic cell cycle  protein transport  membrane  viral process  neutrophil chemotaxis  cell leading edge  regulation of ARF protein signal transduction  protein localization to Golgi apparatus  retrograde transport, endosome to Golgi  positive regulation of GTPase activity  COPI coating of Golgi vesicle  establishment of monopolar cell polarity  protein localization to endoplasmic reticulum exit site  phosphatidylinositol-3,5-bisphosphate binding  Golgi disassembly  endoplasmic reticulum-Golgi intermediate compartment organization  reactive oxygen species biosynthetic process  protein localization to endoplasmic reticulum tubular network  regulation of protein localization to cell surface  
Ontology : EGO-EBIGolgi membrane  cell activation involved in immune response  guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  ARF guanyl-nucleotide exchange factor activity  protein binding  phosphatidylinositol-3,4,5-trisphosphate binding  mitochondrion  peroxisome  endoplasmic reticulum lumen  endoplasmic reticulum-Golgi intermediate compartment  Golgi apparatus  Golgi stack  cis-Golgi network  trans-Golgi network  lipid particle  cytosol  ER to Golgi vesicle-mediated transport  retrograde vesicle-mediated transport, Golgi to ER  retrograde vesicle-mediated transport, Golgi to ER  post-Golgi vesicle-mediated transport  Golgi to endosome transport  Golgi organization  regulation of mitotic cell cycle  protein transport  membrane  viral process  neutrophil chemotaxis  cell leading edge  regulation of ARF protein signal transduction  protein localization to Golgi apparatus  retrograde transport, endosome to Golgi  positive regulation of GTPase activity  COPI coating of Golgi vesicle  establishment of monopolar cell polarity  protein localization to endoplasmic reticulum exit site  phosphatidylinositol-3,5-bisphosphate binding  Golgi disassembly  endoplasmic reticulum-Golgi intermediate compartment organization  reactive oxygen species biosynthetic process  protein localization to endoplasmic reticulum tubular network  regulation of protein localization to cell surface  
Pathways : BIOCARTAADP-Ribosylation Factor [Genes]   
NDEx NetworkGBF1
Atlas of Cancer Signalling NetworkGBF1
Wikipedia pathwaysGBF1
Orthology - Evolution
OrthoDB8729
GeneTree (enSembl)ENSG00000107862
Phylogenetic Trees/Animal Genes : TreeFamGBF1
HOVERGENQ92538
HOGENOMQ92538
Homologs : HomoloGeneGBF1
Homology/Alignments : Family Browser (UCSC)GBF1
Gene fusions - Rearrangements
Fusion: TCGASUFU GBF1
Fusion: TCGANFKB2 GBF1
Fusion: TCGAAS3MT GBF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGBF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GBF1
dbVarGBF1
ClinVarGBF1
1000_GenomesGBF1 
Exome Variant ServerGBF1
ExAC (Exome Aggregation Consortium)GBF1 (select the gene name)
Genetic variants : HAPMAP8729
Genomic Variants (DGV)GBF1 [DGVbeta]
DECIPHERGBF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGBF1 
Mutations
ICGC Data PortalGBF1 
TCGA Data PortalGBF1 
Broad Tumor PortalGBF1
OASIS PortalGBF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGBF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGBF1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GBF1
DgiDB (Drug Gene Interaction Database)GBF1
DoCM (Curated mutations)GBF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GBF1 (select a term)
intoGenGBF1
Cancer3DGBF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603698   
Orphanet
MedgenGBF1
Genetic Testing Registry GBF1
NextProtQ92538 [Medical]
TSGene8729
GENETestsGBF1
Target ValidationGBF1
Huge Navigator GBF1 [HugePedia]
snp3D : Map Gene to Disease8729
BioCentury BCIQGBF1
ClinGenGBF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8729
Chemical/Pharm GKB GenePA28595
Clinical trialGBF1
Miscellaneous
canSAR (ICR)GBF1 (select the gene name)
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGBF1
EVEXGBF1
GoPubMedGBF1
iHOPGBF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 18 13:09:15 CEST 2017

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