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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.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Plasma proteins
Predicted locationi
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
1
Cytoband
q22
Chromosome location (bp)
155946851 - 156007070
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Activates Rho-GTPases by promoting the exchange of GDP for GTP. May be involved in epithelial barrier permeability, cell motility and polarization, dendritic spine morphology, antigen presentation, leukemic cell differentiation, cell cycle regulation, innate immune response, and cancer. Binds Rac-GTPases, but does not seem to promote nucleotide exchange activity toward Rac-GTPases, which was uniquely reported in 1. May stimulate instead the cortical activity of Rac. Inactive toward CDC42, TC10, or Ras-GTPases. Forms an intracellular sensing system along with NOD1 for the detection of microbial effectors during cell invasion by pathogens. Required for RHOA and RIP2 dependent NF-kappaB signaling pathways activation upon S.flexneri cell invasion. Involved not only in sensing peptidoglycan (PGN)-derived muropeptides through NOD1 that is independent of its GEF activity, but also in the activation of NF-kappaB by Shigella effector proteins (IpgB2 and OspB) which requires its GEF activity and the activation of RhoA. Involved in innate immune signaling transduction pathway promoting cytokine IL6/interleukin-6 and TNF-alpha secretion in macrophage upon stimulation by bacterial peptidoglycans; acts as a signaling intermediate between NOD2 receptor and RIPK2 kinase. Contributes to the tyrosine phosphorylation of RIPK2 through Src tyrosine kinase leading to NF-kappaB activation by NOD2. Overexpression activates Rho-, but not Rac-GTPases, and increases paracellular permeability (By similarity). Involved in neuronal progenitor cell division and differentiation 2. Involved in the migration of precerebellar neurons (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]...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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000902[cell morphogenesis] GO:0002376[immune system process] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0005923[bicellular tight junction] GO:0005925[focal adhesion] GO:0006886[intracellular protein transport] GO:0007015[actin filament organization] GO:0007026[negative regulation of microtubule depolymerization] GO:0007049[cell cycle] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0030154[cell differentiation] GO:0031267[small GTPase binding] GO:0031410[cytoplasmic vesicle] GO:0031982[vesicle] GO:0032587[ruffle membrane] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032991[protein-containing complex] GO:0035023[regulation of Rho protein signal transduction] GO:0042127[regulation of cell population proliferation] GO:0042995[cell projection] GO:0045087[innate immune response] GO:0045666[positive regulation of neuron differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051301[cell division] GO:0055059[asymmetric neuroblast division] GO:0060546[negative regulation of necroptotic process] GO:0070161[anchoring junction] GO:0071225[cellular response to muramyl dipeptide] GO:0071356[cellular response to tumor necrosis factor] GO:0071474[cellular hyperosmotic response] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1902219[negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress] GO:2001224[positive regulation of neuron migration]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000902[cell morphogenesis] GO:0002376[immune system process] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0005923[bicellular tight junction] GO:0005925[focal adhesion] GO:0006886[intracellular protein transport] GO:0007015[actin filament organization] GO:0007026[negative regulation of microtubule depolymerization] GO:0007049[cell cycle] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0030154[cell differentiation] GO:0031267[small GTPase binding] GO:0031410[cytoplasmic vesicle] GO:0031982[vesicle] GO:0032587[ruffle membrane] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032991[protein-containing complex] GO:0035023[regulation of Rho protein signal transduction] GO:0042127[regulation of cell population proliferation] GO:0042995[cell projection] GO:0045087[innate immune response] GO:0045666[positive regulation of neuron differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051301[cell division] GO:0055059[asymmetric neuroblast division] GO:0060546[negative regulation of necroptotic process] GO:0070161[anchoring junction] GO:0071225[cellular response to muramyl dipeptide] GO:0071356[cellular response to tumor necrosis factor] GO:0071474[cellular hyperosmotic response] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1902219[negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress] GO:2001224[positive regulation of neuron migration]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Congenital malformations of the nervous system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000902[cell morphogenesis] GO:0002376[immune system process] GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005794[Golgi apparatus] GO:0005819[spindle] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0005923[bicellular tight junction] GO:0005925[focal adhesion] GO:0006886[intracellular protein transport] GO:0007015[actin filament organization] GO:0007026[negative regulation of microtubule depolymerization] GO:0007049[cell cycle] GO:0007399[nervous system development] GO:0008017[microtubule binding] GO:0008270[zinc ion binding] GO:0016020[membrane] GO:0030154[cell differentiation] GO:0031267[small GTPase binding] GO:0031410[cytoplasmic vesicle] GO:0031982[vesicle] GO:0032587[ruffle membrane] GO:0032755[positive regulation of interleukin-6 production] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032991[protein-containing complex] GO:0035023[regulation of Rho protein signal transduction] GO:0042127[regulation of cell population proliferation] GO:0042995[cell projection] GO:0045087[innate immune response] GO:0045666[positive regulation of neuron differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0050731[positive regulation of peptidyl-tyrosine phosphorylation] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051092[positive regulation of NF-kappaB transcription factor activity] GO:0051301[cell division] GO:0055059[asymmetric neuroblast division] GO:0060546[negative regulation of necroptotic process] GO:0070161[anchoring junction] GO:0071225[cellular response to muramyl dipeptide] GO:0071356[cellular response to tumor necrosis factor] GO:0071474[cellular hyperosmotic response] GO:1902042[negative regulation of extrinsic apoptotic signaling pathway via death domain receptors] GO:1902219[negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress] GO:2001224[positive regulation of neuron migration]
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the nervous system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
