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
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:
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.
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.
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.
ModBase Predicted Comparative 3D Structure on Q92538
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.