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

Gene ID: 8729, updated on 22-Aug-2020

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

Genomic context

See GBF1 in Genome Data Viewer
Location:
10q24.32
Exon count:
41
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (102245531..102382899)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104005255..104142656)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes 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

Function Evidence Code Pubs
ARF guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
 
phosphatidylinositol-3,4,5-trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-3,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
COPI coating of Golgi vesicle IMP
Inferred from Mutant Phenotype
more info
PubMed 
ER to Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
Golgi disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Golgi to endosome transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell activation involved in immune response IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to virus IMP
Inferred from Mutant Phenotype
more info
PubMed 
endoplasmic reticulum-Golgi intermediate compartment organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of monopolar cell polarity IMP
Inferred from Mutant Phenotype
more info
PubMed 
neutrophil chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
post-Golgi vesicle-mediated transport TAS
Traceable Author Statement
more info
 
protein localization to Golgi apparatus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to endoplasmic reticulum exit site IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to endoplasmic reticulum tubular network IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
reactive oxygen species biosynthetic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of ARF protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein localization to cell surface IMP
Inferred from Mutant Phenotype
more info
PubMed 
retrograde transport, endosome to Golgi IMP
Inferred from Mutant Phenotype
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER IMP
Inferred from Mutant Phenotype
more info
PubMed 
retrograde vesicle-mediated transport, Golgi to ER TAS
Traceable Author Statement
more info
 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
Golgi membrane TAS
Traceable Author Statement
more info
 
Golgi stack IEA
Inferred from Electronic Annotation
more info
 
cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
cis-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
endoplasmic reticulum-Golgi intermediate compartment IDA
Inferred from Direct Assay
more info
PubMed 
lipid droplet IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
peroxisome IEA
Inferred from Electronic Annotation
more info
 
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)

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
    Conserved Domains (2) summary
    pfam01369
    Location:700885
    Sec7; Sec7 domain
    pfam12783
    Location:401546
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  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
    Conserved Domains (2) summary
    pfam01369
    Location:699884
    Sec7; Sec7 domain
    pfam12783
    Location:400545
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
  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
  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
  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
  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
  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
  8. 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
    ENSP00000359000.3, ENST00000369983.3
    Conserved Domains (2) summary
    pfam01369
    Location:699884
    Sec7; Sec7 domain
    pfam12783
    Location:400545
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

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
  3. NR_165087.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AL121928, AL160011, AL356420
  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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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
    102245531..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_017016863.2XP_016872352.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X8

  9. 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
  10. XM_011540314.2XP_011538616.1  Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1 isoform X11

    Conserved Domains (2) summary
    pfam01369
    Location:256441
    Sec7; Sec7 domain
    pfam12783
    Location:20102
    Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal

RNA

  1. XR_001747252.2 RNA Sequence

  2. XR_001747253.2 RNA Sequence

  3. XR_001747254.2 RNA Sequence

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