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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
X
Cytoband
q12
Chromosome location (bp)
67949349 - 68433913
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
GTPase activation
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Endocytosis, Neurogenesis
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779[actin binding] GO:0005096[GTPase activator activity] GO:0005543[phospholipid binding] GO:0005737[cytoplasm] GO:0006897[endocytosis] GO:0006930[substrate-dependent cell migration, cell extension] GO:0007165[signal transduction] GO:0007399[nervous system development] GO:0007411[axon guidance] GO:0015629[actin cytoskeleton] GO:0021707[cerebellar granule cell differentiation] GO:0021895[cerebral cortex neuron differentiation] GO:0030036[actin cytoskeleton organization] GO:0030100[regulation of endocytosis] GO:0030182[neuron differentiation] GO:0030424[axon] GO:0030425[dendrite] GO:0031175[neuron projection development] GO:0034329[cell junction assembly] GO:0035023[regulation of Rho protein signal transduction] GO:0035255[ionotropic glutamate receptor binding] GO:0042995[cell projection] GO:0043195[terminal bouton] GO:0043197[dendritic spine] GO:0045198[establishment of epithelial cell apical/basal polarity] GO:0045202[synapse] GO:0048488[synaptic vesicle endocytosis] GO:0048667[cell morphogenesis involved in neuron differentiation] GO:0051966[regulation of synaptic transmission, glutamatergic] GO:0098793[presynapse] GO:0098794[postsynapse] GO:0098880[maintenance of postsynaptic specialization structure] GO:0098978[glutamatergic synapse] GO:0099149[regulation of postsynaptic neurotransmitter receptor internalization] GO:1900242[regulation of synaptic vesicle endocytosis] GO:1901799[negative regulation of proteasomal protein catabolic process]
Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
