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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
17
Cytoband
p13.1
Chromosome location (bp)
8288654 - 8290092
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May regulate the intracellular trafficking of RAN 1. Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1 2. Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics 3. Enhances the expression of SCN5A at the cell membrane in cardiomyocytes 4,5,6....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Guanine-nucleotide releasing factor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Protein transport, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q9HD47 [Direct mapping] Ran guanine nucleotide release factor
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027[regulation of heart rate] GO:0003254[regulation of membrane depolarization] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005791[rough endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0006606[protein import into nucleus] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0014704[intercalated disc] GO:0015031[protein transport] GO:0016020[membrane] GO:0017080[sodium channel regulator activity] GO:0031267[small GTPase binding] GO:0032527[protein exit from endoplasmic reticulum] GO:0042391[regulation of membrane potential] GO:0044325[transmembrane transporter binding] GO:0048471[perinuclear region of cytoplasm] GO:0060047[heart contraction] GO:0090226[regulation of microtubule nucleation by Ran protein signal transduction] GO:0098905[regulation of bundle of His cell action potential] GO:0098909[regulation of cardiac muscle cell action potential involved in regulation of contraction] GO:1900825[regulation of membrane depolarization during cardiac muscle cell action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1903078[positive regulation of protein localization to plasma membrane] GO:2000010[positive regulation of protein localization to cell surface] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Q9HD47 [Direct mapping] Ran guanine nucleotide release factor
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027[regulation of heart rate] GO:0003254[regulation of membrane depolarization] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005791[rough endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0006606[protein import into nucleus] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0014704[intercalated disc] GO:0015031[protein transport] GO:0016020[membrane] GO:0017080[sodium channel regulator activity] GO:0031267[small GTPase binding] GO:0032527[protein exit from endoplasmic reticulum] GO:0042391[regulation of membrane potential] GO:0044325[transmembrane transporter binding] GO:0048471[perinuclear region of cytoplasm] GO:0060047[heart contraction] GO:0090226[regulation of microtubule nucleation by Ran protein signal transduction] GO:0098905[regulation of bundle of His cell action potential] GO:0098909[regulation of cardiac muscle cell action potential involved in regulation of contraction] GO:1900825[regulation of membrane depolarization during cardiac muscle cell action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1903078[positive regulation of protein localization to plasma membrane] GO:2000010[positive regulation of protein localization to cell surface] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Q9HD47 [Direct mapping] Ran guanine nucleotide release factor
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027[regulation of heart rate] GO:0003254[regulation of membrane depolarization] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005791[rough endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0006606[protein import into nucleus] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0014704[intercalated disc] GO:0015031[protein transport] GO:0016020[membrane] GO:0017080[sodium channel regulator activity] GO:0031267[small GTPase binding] GO:0032527[protein exit from endoplasmic reticulum] GO:0042391[regulation of membrane potential] GO:0044325[transmembrane transporter binding] GO:0048471[perinuclear region of cytoplasm] GO:0060047[heart contraction] GO:0090226[regulation of microtubule nucleation by Ran protein signal transduction] GO:0098905[regulation of bundle of His cell action potential] GO:0098909[regulation of cardiac muscle cell action potential involved in regulation of contraction] GO:1900825[regulation of membrane depolarization during cardiac muscle cell action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1903078[positive regulation of protein localization to plasma membrane] GO:2000010[positive regulation of protein localization to cell surface] GO:2000649[regulation of sodium ion transmembrane transporter activity]
Q9HD47 [Direct mapping] Ran guanine nucleotide release factor
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002027[regulation of heart rate] GO:0003254[regulation of membrane depolarization] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005791[rough endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005901[caveola] GO:0006606[protein import into nucleus] GO:0006888[endoplasmic reticulum to Golgi vesicle-mediated transport] GO:0014704[intercalated disc] GO:0015031[protein transport] GO:0016020[membrane] GO:0017080[sodium channel regulator activity] GO:0031267[small GTPase binding] GO:0032527[protein exit from endoplasmic reticulum] GO:0042391[regulation of membrane potential] GO:0044325[transmembrane transporter binding] GO:0048471[perinuclear region of cytoplasm] GO:0060047[heart contraction] GO:0090226[regulation of microtubule nucleation by Ran protein signal transduction] GO:0098905[regulation of bundle of His cell action potential] GO:0098909[regulation of cardiac muscle cell action potential involved in regulation of contraction] GO:1900825[regulation of membrane depolarization during cardiac muscle cell action potential] GO:1902305[regulation of sodium ion transmembrane transport] GO:1903078[positive regulation of protein localization to plasma membrane] GO:2000010[positive regulation of protein localization to cell surface] GO:2000649[regulation of sodium ion transmembrane transporter activity]
The Human Protein Atlas project is funded
