Human Gene GBF1 (uc001kux.2) Description and Page Index
  Description: Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.
RefSeq Summary (NM_004193): 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].
Transcript (Including UTRs)
   Position: hg19 chr10:104,005,255-104,142,656 Size: 137,402 Total Exon Count: 40 Strand: +
Coding Region
   Position: hg19 chr10:104,018,696-104,142,093 Size: 123,398 Coding Exon Count: 39 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:104,005,255-104,142,656)mRNA (may differ from genome)Protein (1859 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: GBF1_HUMAN
DESCRIPTION: RecName: Full=Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1; Short=BFA-resistant GEF 1;
FUNCTION: Promotes guanine-nucleotide exchange on ARF5. Promotes the activation of ARF5 through replacement of GDP with GTP (By similarity).
ENZYME REGULATION: Inhibited by brefeldin A (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Contains 1 SEC7 domain.
SEQUENCE CAUTION: Sequence=BAA13379.2; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): GBF1
CDC HuGE Published Literature: GBF1
Positive Disease Associations: Echocardiography
Related Studies:
  1. Echocardiography
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.

-  MalaCards Disease Associations
  MalaCards Gene Search: GBF1
Diseases sorted by gene-association score: legionnaires' disease (5), heterotopia, periventricular (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 31.79 RPKM in Pituitary
Total median expression: 905.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -121.60294-0.414 Picture PostScript Text
3' UTR -200.74563-0.357 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000904 - Sec7
IPR023394 - SEC7_alpha_orthog

Pfam Domains:
PF01369 - Sec7 domain
PF12783 - Guanine nucleotide exchange factor in Golgi transport N-terminal

SCOP Domains:
48425 - Sec7 domain

ModBase Predicted Comparative 3D Structure on Q92538
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologNo orthologGenome Browser
Gene Details    Gene Details
Gene Sorter    Gene Sorter
  Ensembl  SGD
  Protein Sequence  Protein Sequence
  Alignment  Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005086 ARF guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0008289 lipid binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding

Biological Process:
GO:0002263 cell activation involved in immune response
GO:0006888 ER to Golgi vesicle-mediated transport
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER
GO:0006892 post-Golgi vesicle-mediated transport
GO:0006895 Golgi to endosome transport
GO:0007030 Golgi organization
GO:0007346 regulation of mitotic cell cycle
GO:0015031 protein transport
GO:0016032 viral process
GO:0030593 neutrophil chemotaxis
GO:0032012 regulation of ARF protein signal transduction
GO:0034067 protein localization to Golgi apparatus
GO:0042147 retrograde transport, endosome to Golgi
GO:0048205 COPI coating of Golgi vesicle
GO:0061162 establishment of monopolar cell polarity
GO:0070973 protein localization to endoplasmic reticulum exit site
GO:0090166 Golgi disassembly
GO:0097111 endoplasmic reticulum-Golgi intermediate compartment organization
GO:0098586 cellular response to virus
GO:1903409 reactive oxygen species biosynthetic process
GO:1903420 protein localization to endoplasmic reticulum tubular network
GO:2000008 regulation of protein localization to cell surface

Cellular Component:
GO:0000139 Golgi membrane
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005777 peroxisome
GO:0005788 endoplasmic reticulum lumen
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment
GO:0005794 Golgi apparatus
GO:0005795 Golgi stack
GO:0005801 cis-Golgi network
GO:0005802 trans-Golgi network
GO:0005811 lipid particle
GO:0005829 cytosol
GO:0016020 membrane
GO:0031252 cell leading edge


-  Descriptions from all associated GenBank mRNAs
  LF385292 - JP 2014500723-A/192795: Polycomb-Associated Non-Coding RNAs.
BC094763 - Homo sapiens golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1, mRNA (cDNA clone IMAGE:30528881), complete cds.
AK025330 - Homo sapiens cDNA: FLJ21677 fis, clone COL09171, highly similar to AF068755 Homo sapiens sec7 domain family member (GBF1) mRNA.
BC032543 - Homo sapiens golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1, mRNA (cDNA clone IMAGE:5535398), partial cds.
AF068755 - Homo sapiens sec7 domain family member (GBF1) mRNA, complete cds.
D87435 - Homo sapiens mRNA for KIAA0248 gene.
BC117681 - Homo sapiens golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1, mRNA (cDNA clone MGC:134877 IMAGE:40070852), complete cds.
BC117682 - Homo sapiens golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1, mRNA (cDNA clone MGC:134878 IMAGE:40070853), complete cds.
AB383818 - Synthetic construct DNA, clone: pF1KSDA0248, Homo sapiens GBF1 gene for Golgi-specific brefeldin A-resistance guanine nucleotide exchange factor 1, complete cds, without stop codon, in Flexi system.
MA620869 - JP 2018138019-A/192795: Polycomb-Associated Non-Coding RNAs.
BC057804 - Homo sapiens cDNA clone IMAGE:30345987.
BC068543 - Homo sapiens cDNA clone IMAGE:30345986.
JD055124 - Sequence 36148 from Patent EP1572962.
JD148104 - Sequence 129128 from Patent EP1572962.
JD073373 - Sequence 54397 from Patent EP1572962.
JD107807 - Sequence 88831 from Patent EP1572962.
JD478990 - Sequence 460014 from Patent EP1572962.
JD464854 - Sequence 445878 from Patent EP1572962.
LF345838 - JP 2014500723-A/153341: Polycomb-Associated Non-Coding RNAs.
LF345839 - JP 2014500723-A/153342: Polycomb-Associated Non-Coding RNAs.
LF211353 - JP 2014500723-A/18856: Polycomb-Associated Non-Coding RNAs.
LF345840 - JP 2014500723-A/153343: Polycomb-Associated Non-Coding RNAs.
LF345841 - JP 2014500723-A/153344: Polycomb-Associated Non-Coding RNAs.
LF345843 - JP 2014500723-A/153346: Polycomb-Associated Non-Coding RNAs.
AK024916 - Homo sapiens cDNA: FLJ21263 fis, clone COL01565, highly similar to AF068755 Homo sapiens sec7 domain family member (GBF1) mRNA.
LF345844 - JP 2014500723-A/153347: Polycomb-Associated Non-Coding RNAs.
LF345845 - JP 2014500723-A/153348: Polycomb-Associated Non-Coding RNAs.
LF345846 - JP 2014500723-A/153349: Polycomb-Associated Non-Coding RNAs.
AK025153 - Homo sapiens cDNA: FLJ21500 fis, clone COL05639, highly similar to AF068755 Homo sapiens sec7 domain family member (GBF1) mRNA.
LF345847 - JP 2014500723-A/153350: Polycomb-Associated Non-Coding RNAs.
BC014171 - Homo sapiens golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1, mRNA (cDNA clone IMAGE:4561065), partial cds.
LF345849 - JP 2014500723-A/153352: Polycomb-Associated Non-Coding RNAs.
BC007941 - Homo sapiens golgi-specific brefeldin A resistant guanine nucleotide exchange factor 1, mRNA (cDNA clone IMAGE:4131763), partial cds.
LF345850 - JP 2014500723-A/153353: Polycomb-Associated Non-Coding RNAs.
LF345851 - JP 2014500723-A/153354: Polycomb-Associated Non-Coding RNAs.
LF345852 - JP 2014500723-A/153355: Polycomb-Associated Non-Coding RNAs.
JD084671 - Sequence 65695 from Patent EP1572962.
JD319935 - Sequence 300959 from Patent EP1572962.
JD338397 - Sequence 319421 from Patent EP1572962.
JD327125 - Sequence 308149 from Patent EP1572962.
JD172992 - Sequence 154016 from Patent EP1572962.
JD173272 - Sequence 154296 from Patent EP1572962.
JD080680 - Sequence 61704 from Patent EP1572962.
JD529872 - Sequence 510896 from Patent EP1572962.
JD514634 - Sequence 495658 from Patent EP1572962.
JD072602 - Sequence 53626 from Patent EP1572962.
JD492943 - Sequence 473967 from Patent EP1572962.
JD376948 - Sequence 357972 from Patent EP1572962.
JD156227 - Sequence 137251 from Patent EP1572962.
JD535488 - Sequence 516512 from Patent EP1572962.
JD187293 - Sequence 168317 from Patent EP1572962.
JD111642 - Sequence 92666 from Patent EP1572962.
JD551868 - Sequence 532892 from Patent EP1572962.
JD253892 - Sequence 234916 from Patent EP1572962.
JD301626 - Sequence 282650 from Patent EP1572962.
JD299648 - Sequence 280672 from Patent EP1572962.
MA581415 - JP 2018138019-A/153341: Polycomb-Associated Non-Coding RNAs.
MA581416 - JP 2018138019-A/153342: Polycomb-Associated Non-Coding RNAs.
MA581417 - JP 2018138019-A/153343: Polycomb-Associated Non-Coding RNAs.
MA581418 - JP 2018138019-A/153344: Polycomb-Associated Non-Coding RNAs.
MA581420 - JP 2018138019-A/153346: Polycomb-Associated Non-Coding RNAs.
MA581421 - JP 2018138019-A/153347: Polycomb-Associated Non-Coding RNAs.
MA581422 - JP 2018138019-A/153348: Polycomb-Associated Non-Coding RNAs.
MA581423 - JP 2018138019-A/153349: Polycomb-Associated Non-Coding RNAs.
MA581424 - JP 2018138019-A/153350: Polycomb-Associated Non-Coding RNAs.
MA581426 - JP 2018138019-A/153352: Polycomb-Associated Non-Coding RNAs.
MA581427 - JP 2018138019-A/153353: Polycomb-Associated Non-Coding RNAs.
MA581428 - JP 2018138019-A/153354: Polycomb-Associated Non-Coding RNAs.
MA581429 - JP 2018138019-A/153355: Polycomb-Associated Non-Coding RNAs.
MA446930 - JP 2018138019-A/18856: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_arapPathway - ADP-Ribosylation Factor

Reactome (by CSHL, EBI, and GO)

Protein Q92538 (Reactome details) participates in the following event(s):

R-HSA-6807864 RAB1:GTP recruits GBF1 to the ERGIC
R-HSA-6811415 RAB:GTP recruits GBF1 to the Golgi membrane
R-HSA-6807877 ARFGAPs stimulate ARF GTPase activity
R-HSA-6811418 ARFGAPs stimulate ARF GTPase activity at the Golgi membrane
R-HSA-6811411 GBF1 recruits ARF:GDP to the Golgi
R-HSA-350769 trans-Golgi Network Coat Activation
R-HSA-5623508 GBF1 stimulates nucleotide exchange on ARF4
R-HSA-6807866 GBF1 recruits ARF:GDP to the ERGIC
R-HSA-6811414 GBF1 stimulates nucleotide exchange on ARF
R-HSA-6811412 Active ARF recruits coatomer to the Golgi
R-HSA-6807868 GBF1 stimulates ARF nucleotide exchange
R-HSA-6807872 Active ARF recruits coatomer
R-HSA-6811417 ARFGAP, cargo, vSNARES and p24 proteins bind COPI vesicles at Golgi
R-HSA-6807875 ARFGAP, cargo, v-SNAREs and p24 proteins bind nascent COPI complex
R-HSA-6807878 COPI-mediated anterograde transport
R-HSA-6811434 COPI-dependent Golgi-to-ER retrograde traffic
R-HSA-421837 Clathrin derived vesicle budding
R-HSA-5620916 VxPx cargo-targeting to cilium
R-HSA-199977 ER to Golgi Anterograde Transport
R-HSA-8856688 Golgi-to-ER retrograde transport
R-HSA-199992 trans-Golgi Network Vesicle Budding
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-199991 Membrane Trafficking
R-HSA-948021 Transport to the Golgi and subsequent modification
R-HSA-6811442 Intra-Golgi and retrograde Golgi-to-ER traffic
R-HSA-5617833 Cilium Assembly
R-HSA-5653656 Vesicle-mediated transport
R-HSA-446203 Asparagine N-linked glycosylation
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-597592 Post-translational protein modification
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: GBF1_HUMAN, KIAA0248, NM_004193, NP_004184, Q5VXX3, Q92538, Q96CK6, Q96HZ3, Q9H473
UCSC ID: uc001kux.2
RefSeq Accession: NM_004193
Protein: Q92538 (aka GBF1_HUMAN)
CCDS: CCDS7533.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004193.2
exon count: 40CDS single in 3' UTR: no RNA size: 6450
ORF size: 5580CDS single in intron: no Alignment % ID: 99.98
txCdsPredict score: 11330.00frame shift in genome: no % Coverage: 99.80
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.