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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).
Cancer-related genes 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
9
Cytoband
q33.2
Chromosome location (bp)
121207794 - 121332843
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed 1. Plays a role in ciliogenesis 2....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Actin capping, Actin-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cilium biogenesis/degradation
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Calcium, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene binds to the ""plus"" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [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 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 Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Neurodegenerative 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:0002102[podosome] GO:0003779[actin binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005546[phosphatidylinositol-4,5-bisphosphate binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006911[phagocytosis, engulfment] GO:0007417[central nervous system development] GO:0008154[actin polymerization or depolymerization] GO:0010628[positive regulation of gene expression] GO:0014891[striated muscle atrophy] GO:0015629[actin cytoskeleton] GO:0016528[sarcoplasm] GO:0030030[cell projection organization] GO:0030031[cell projection assembly] GO:0030041[actin filament polymerization] GO:0030042[actin filament depolymerization] GO:0030478[actin cap] GO:0030864[cortical actin cytoskeleton] GO:0031648[protein destabilization] GO:0034774[secretory granule lumen] GO:0035994[response to muscle stretch] GO:0036313[phosphatidylinositol 3-kinase catalytic subunit binding] GO:0042989[sequestering of actin monomers] GO:0045010[actin nucleation] GO:0045159[myosin II binding] GO:0046597[negative regulation of viral entry into host cell] GO:0046872[metal ion binding] GO:0051014[actin filament severing] GO:0051015[actin filament binding] GO:0051016[barbed-end actin filament capping] GO:0051127[positive regulation of actin nucleation] GO:0051693[actin filament capping] GO:0055119[relaxation of cardiac muscle] GO:0060271[cilium assembly] GO:0070062[extracellular exosome] GO:0071801[regulation of podosome assembly] GO:0072562[blood microparticle] GO:0086003[cardiac muscle cell contraction] GO:0090527[actin filament reorganization] GO:0097017[renal protein absorption] GO:0097284[hepatocyte apoptotic process] GO:1902174[positive regulation of keratinocyte apoptotic process] GO:1903903[regulation of establishment of T cell polarity] GO:1903906[regulation of plasma membrane raft polarization] GO:1903909[regulation of receptor clustering] GO:1903923[positive regulation of protein processing in phagocytic vesicle] GO:1904813[ficolin-1-rich granule lumen] GO:1990000[amyloid fibril formation] GO:2001269[positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002102[podosome] GO:0003779[actin binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005546[phosphatidylinositol-4,5-bisphosphate binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006911[phagocytosis, engulfment] GO:0007417[central nervous system development] GO:0008154[actin polymerization or depolymerization] GO:0010628[positive regulation of gene expression] GO:0014891[striated muscle atrophy] GO:0015629[actin cytoskeleton] GO:0016528[sarcoplasm] GO:0030030[cell projection organization] GO:0030031[cell projection assembly] GO:0030041[actin filament polymerization] GO:0030042[actin filament depolymerization] GO:0030478[actin cap] GO:0030864[cortical actin cytoskeleton] GO:0031648[protein destabilization] GO:0034774[secretory granule lumen] GO:0035994[response to muscle stretch] GO:0036313[phosphatidylinositol 3-kinase catalytic subunit binding] GO:0042989[sequestering of actin monomers] GO:0045010[actin nucleation] GO:0045159[myosin II binding] GO:0046597[negative regulation of viral entry into host cell] GO:0046872[metal ion binding] GO:0051014[actin filament severing] GO:0051015[actin filament binding] GO:0051016[barbed-end actin filament capping] GO:0051127[positive regulation of actin nucleation] GO:0051693[actin filament capping] GO:0055119[relaxation of cardiac muscle] GO:0060271[cilium assembly] GO:0070062[extracellular exosome] GO:0071801[regulation of podosome assembly] GO:0072562[blood microparticle] GO:0086003[cardiac muscle cell contraction] GO:0090527[actin filament reorganization] GO:0097017[renal protein absorption] GO:0097284[hepatocyte apoptotic process] GO:1902174[positive regulation of keratinocyte apoptotic process] GO:1903903[regulation of establishment of T cell polarity] GO:1903906[regulation of plasma membrane raft polarization] GO:1903909[regulation of receptor clustering] GO:1903923[positive regulation of protein processing in phagocytic vesicle] GO:1904813[ficolin-1-rich granule lumen] GO:1990000[amyloid fibril formation] GO:2001269[positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Q5T0I0 [Direct mapping] Macrophage-capping protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
A0A0U1RQL8 [Direct mapping] Macrophage-capping protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0002102[podosome] GO:0003779[actin binding] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005546[phosphatidylinositol-4,5-bisphosphate binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006911[phagocytosis, engulfment] GO:0007417[central nervous system development] GO:0008154[actin polymerization or depolymerization] GO:0010628[positive regulation of gene expression] GO:0014891[striated muscle atrophy] GO:0015629[actin cytoskeleton] GO:0016528[sarcoplasm] GO:0030030[cell projection organization] GO:0030031[cell projection assembly] GO:0030041[actin filament polymerization] GO:0030042[actin filament depolymerization] GO:0030478[actin cap] GO:0030864[cortical actin cytoskeleton] GO:0031648[protein destabilization] GO:0034774[secretory granule lumen] GO:0035994[response to muscle stretch] GO:0036313[phosphatidylinositol 3-kinase catalytic subunit binding] GO:0042989[sequestering of actin monomers] GO:0045010[actin nucleation] GO:0045159[myosin II binding] GO:0046597[negative regulation of viral entry into host cell] GO:0046872[metal ion binding] GO:0051014[actin filament severing] GO:0051015[actin filament binding] GO:0051016[barbed-end actin filament capping] GO:0051127[positive regulation of actin nucleation] GO:0051693[actin filament capping] GO:0055119[relaxation of cardiac muscle] GO:0060271[cilium assembly] GO:0070062[extracellular exosome] GO:0071801[regulation of podosome assembly] GO:0072562[blood microparticle] GO:0086003[cardiac muscle cell contraction] GO:0090527[actin filament reorganization] GO:0097017[renal protein absorption] GO:0097284[hepatocyte apoptotic process] GO:1902174[positive regulation of keratinocyte apoptotic process] GO:1903903[regulation of establishment of T cell polarity] GO:1903906[regulation of plasma membrane raft polarization] GO:1903909[regulation of receptor clustering] GO:1903923[positive regulation of protein processing in phagocytic vesicle] GO:1904813[ficolin-1-rich granule lumen] GO:1990000[amyloid fibril formation] GO:2001269[positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)