AutismKB 2.0

Annotation Details for GBF1


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Basic Information Top
Gene Symbol:GBF1 ( ARF1GEF,FLJ21263,FLJ21500,KIAA0248,MGC134877,MGC134878 )
Gene Full Name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
Band: 10q24.32
Quick LinksEntrez ID:8729; OMIM: 603698; Uniprot ID:GBF1_HUMAN; ENSEMBL ID: ENSG00000107862; HGNC ID: 4181
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000139TAS-Golgi membrane-
GO:0005739IEA-mitochondrion-
GO:0005777IEA-peroxisome-
GO:0005788IEA-endoplasmic reticulum lumen-
GO:0005793IDA-endoplasmic reticulum-Golgi intermediate compartment12047556
GO:0005794IDA-Golgi apparatus-
GO:0005795IEA-Golgi stack-
GO:0005801IDA-cis-Golgi network12047556
GO:0005802IDA-trans-Golgi network23386609
GO:0005811IEA-lipid particle-
GO:0005829TAS-cytosol-
GO:0016020IDA-membrane19946888
GO:0031252IDA-cell leading edge22573891
GO ID Evidence Qualifier GO_term References
GO:0005085TAS-guanyl-nucleotide exchange factor activity-
GO:0005086IBA-ARF guanyl-nucleotide exchange factor activity-
GO:0005086TAS-ARF guanyl-nucleotide exchange factor activity-
GO:0005515IPI-protein binding17956946
GO:0005547IDA-phosphatidylinositol-3,4,5-trisphosphate binding22573891
GO:0080025IDA-phosphatidylinositol-3,5-bisphosphate binding22573891
GO ID Evidence Qualifier GO_term References
GO:0002263IMP-cell activation involved in immune response22573891
GO:0006888TAS-ER to Golgi vesicle-mediated transport-
GO:0006890IMP-retrograde vesicle-mediated transport, Golgi to ER12047556
GO:0006890TAS-retrograde vesicle-mediated transport, Golgi to ER-
GO:0006892TAS-post-Golgi vesicle-mediated transport-
GO:0006895IMP-Golgi to endosome transport23386609
GO:0007030IMP-Golgi organization12808027
GO:0007346IMP-regulation of mitotic cell cycle23418352
GO:0015031IEA-protein transport-
GO:0030593IMP-neutrophil chemotaxis22573891
GO:0032012IEA-regulation of ARF protein signal transduction-
GO:0034067IMP-protein localization to Golgi apparatus17956946
GO:0042147IMP-retrograde transport, endosome to Golgi12808027
GO:0043547IEA-positive regulation of GTPase activity-
GO:0048205IMP-COPI coating of Golgi vesicle12047556
GO:0061162IMP-establishment of monopolar cell polarity22573891
GO:0070973IMP-protein localization to endoplasmic reticulum exit site17956946
GO:0090166IMP-Golgi disassembly23418352
GO:0097111IMP-endoplasmic reticulum-Golgi intermediate compartment organization17956946
GO:0098586IMP-cellular response to virus28389568
GO:1903409IMP-reactive oxygen species biosynthetic process22573891
GO:1903420IMP-protein localization to endoplasmic reticulum tubular network17956946
GO:2000008IMP-regulation of protein localization to cell surface17956946
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
GBF1YWHAG11426817353931 Affinity Capture-MS
GBF1YWHAG11336417353931 Affinity Capture-MS
COPGGBF111426819039328 Affinity Capture-Western
COPGGBF111649619039328 Affinity Capture-Western
KBTBD7GBF112387320562859 Affinity Capture-MS
KBTBD7GBF111426820562859 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
No data
Gene Symbol Poly Names Gene overview in PDGene
GBF1rs10736156, rs10748818, rs1541046, rs1628530, rs4919624 Gene overview in PDGene
No data
Animal Model Top
  • MGI ID: MGI:1861607
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018