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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 Potential drug targets Transporters
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
q28
Chromosome location (bp)
154348524 - 154374634
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Promotes orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton and serves as a scaffold for a wide range of cytoplasmic signaling proteins. Interaction with FLNB may allow neuroblast migration from the ventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directs its intracellular trafficking (By similarity). Involved in ciliogenesis. Plays a role in cell-cell contacts and adherens junctions during the development of blood vessels, heart and brain organs. Plays a role in platelets morphology through interaction with SYK that regulates ITAM- and ITAM-like-containing receptor signaling, resulting in by platelet cytoskeleton organization maintenance (By similarity). During the axon guidance process, required for growth cone collapse induced by SEMA3A-mediated stimulation of neurons 1....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Actin-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cilium biogenesis/degradation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 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 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.
Transporters Accessory Factors Involved in Transport Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Other congenital malformations Digestive system diseases Gastrointestinal diseases 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:0001664[G protein-coupled receptor binding] GO:0003723[RNA binding] GO:0003779[actin binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0005925[focal adhesion] GO:0005938[cell cortex] GO:0007010[cytoskeleton organization] GO:0007195[adenylate cyclase-inhibiting dopamine receptor signaling pathway] GO:0007597[blood coagulation, intrinsic pathway] GO:0010572[positive regulation of platelet activation] GO:0015459[potassium channel regulator activity] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016479[negative regulation of transcription by RNA polymerase I] GO:0019900[kinase binding] GO:0030018[Z disc] GO:0030030[cell projection organization] GO:0030036[actin cytoskeleton organization] GO:0030334[regulation of cell migration] GO:0030426[growth cone] GO:0031267[small GTPase binding] GO:0031523[Myb complex] GO:0031532[actin cytoskeleton reorganization] GO:0034394[protein localization to cell surface] GO:0034988[Fc-gamma receptor I complex binding] GO:0035855[megakaryocyte development] GO:0042177[negative regulation of protein catabolic process] GO:0042307[positive regulation of protein import into nucleus] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043066[negative regulation of apoptotic process] GO:0043113[receptor clustering] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043204[perikaryon] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044319[wound healing, spreading of cells] GO:0044325[transmembrane transporter binding] GO:0045184[establishment of protein localization] GO:0045296[cadherin binding] GO:0050821[protein stabilization] GO:0051015[actin filament binding] GO:0051020[GTPase binding] GO:0051209[release of sequestered calcium ion into cytosol] GO:0051220[cytoplasmic sequestering of protein] GO:0051764[actin crosslink formation] GO:0060271[cilium assembly] GO:0070062[extracellular exosome] GO:0070527[platelet aggregation] GO:0071526[semaphorin-plexin signaling pathway] GO:0072659[protein localization to plasma membrane] GO:0090042[tubulin deacetylation] GO:0090307[mitotic spindle assembly] GO:0140297[DNA-binding transcription factor binding] GO:1900026[positive regulation of substrate adhesion-dependent cell spreading] GO:1901381[positive regulation of potassium ion transmembrane transport] GO:1905000[regulation of membrane repolarization during atrial cardiac muscle cell action potential] GO:1905031[regulation of membrane repolarization during cardiac muscle cell action potential] GO:1990779[glycoprotein Ib-IX-V complex] GO:2001046[positive regulation of integrin-mediated signaling pathway]
Transporters Accessory Factors Involved in Transport Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Potential drug targets Human disease related genes Congenital malformations Congenital malformations of the nervous system Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Other congenital malformations Digestive system diseases Gastrointestinal diseases 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:0001525[angiogenesis] GO:0001664[G protein-coupled receptor binding] GO:0001837[epithelial to mesenchymal transition] GO:0001974[blood vessel remodeling] GO:0003007[heart morphogenesis] GO:0003723[RNA binding] GO:0003779[actin binding] GO:0005080[protein kinase C binding] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005802[trans-Golgi network] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005903[brush border] GO:0005911[cell-cell junction] GO:0005925[focal adhesion] GO:0005938[cell cortex] GO:0007010[cytoskeleton organization] GO:0007195[adenylate cyclase-inhibiting dopamine receptor signaling pathway] GO:0007597[blood coagulation, intrinsic pathway] GO:0010572[positive regulation of platelet activation] GO:0010977[negative regulation of neuron projection development] GO:0015459[potassium channel regulator activity] GO:0015629[actin cytoskeleton] GO:0016020[membrane] GO:0016479[negative regulation of transcription by RNA polymerase I] GO:0019900[kinase binding] GO:0030018[Z disc] GO:0030030[cell projection organization] GO:0030036[actin cytoskeleton organization] GO:0030334[regulation of cell migration] GO:0030426[growth cone] GO:0031267[small GTPase binding] GO:0031523[Myb complex] GO:0031532[actin cytoskeleton reorganization] GO:0032231[regulation of actin filament bundle assembly] GO:0032432[actin filament bundle] GO:0034394[protein localization to cell surface] GO:0034988[Fc-gamma receptor I complex binding] GO:0035855[megakaryocyte development] GO:0042177[negative regulation of protein catabolic process] GO:0042307[positive regulation of protein import into nucleus] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043066[negative regulation of apoptotic process] GO:0043113[receptor clustering] GO:0043123[positive regulation of I-kappaB kinase/NF-kappaB signaling] GO:0043204[perikaryon] GO:0043232[intracellular non-membrane-bounded organelle] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0044295[axonal growth cone] GO:0044319[wound healing, spreading of cells] GO:0044325[transmembrane transporter binding] GO:0045022[early endosome to late endosome transport] GO:0045184[establishment of protein localization] GO:0045216[cell-cell junction organization] GO:0045296[cadherin binding] GO:0048680[positive regulation of axon regeneration] GO:0050808[synapse organization] GO:0050821[protein stabilization] GO:0051015[actin filament binding] GO:0051020[GTPase binding] GO:0051209[release of sequestered calcium ion into cytosol] GO:0051220[cytoplasmic sequestering of protein] GO:0051764[actin crosslink formation] GO:0060271[cilium assembly] GO:0070062[extracellular exosome] GO:0070527[platelet aggregation] GO:0071526[semaphorin-plexin signaling pathway] GO:0072659[protein localization to plasma membrane] GO:0090042[tubulin deacetylation] GO:0090307[mitotic spindle assembly] GO:0140297[DNA-binding transcription factor binding] GO:1900026[positive regulation of substrate adhesion-dependent cell spreading] GO:1901381[positive regulation of potassium ion transmembrane transport] GO:1905000[regulation of membrane repolarization during atrial cardiac muscle cell action potential] GO:1905031[regulation of membrane repolarization during cardiac muscle cell action potential] GO:1990779[glycoprotein Ib-IX-V complex] GO:2001046[positive regulation of integrin-mediated signaling pathway]
SPOCTOPUS predicted membrane proteins THUMBUP 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 Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
Phobius predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP 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 Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Other congenital malformations Digestive system diseases Gastrointestinal diseases 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 Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Other congenital malformations Digestive system diseases Gastrointestinal diseases 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 Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Other congenital malformations Digestive system diseases Gastrointestinal diseases 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 Congenital malformations of the circulatory system Congenital malformations of the musculoskeletal system Other congenital malformations Digestive system diseases Gastrointestinal diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
