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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
9
Cytoband
p24.3
Chromosome location (bp)
470291 - 746105
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in the control of cytoskeleton formation by regulating actin polymerization. Inhibits actin fiber formation and cell migration 1. Inhibits RhoA activity; the function involves phosphorylation through PI3K/Akt signaling and may depend on the competitive interaction with 14-3-3 adapter proteins to sequester them from active complexes 2. Inhibits the formation of lamellipodia but not of filopodia; the function may depend on the competitive interaction with BAIAP2 to block its association with activated RAC1 3. Inhibits fibronectin-mediated cell spreading; the function is partially mediated by BAIAP2. Inhibits neurite outgrowth. Involved in the establishment and persistence of cell polarity during directed cell movement in wound healing. In the nucleus, is involved in beta-catenin-dependent activation of transcription. Potential tumor suppressor for renal cell carcinoma. Regulates Rac signaling pathways 4....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene belongs to the Kank family of proteins, which contain multiple ankyrin repeat domains. This family member functions in cytoskeleton formation by regulating actin polymerization. This gene is a candidate tumor suppressor for renal cell carcinoma. Mutations in this gene cause cerebral palsy spastic quadriplegic type 2, a central nervous system development disorder. A t(5;9) translocation results in fusion of the platelet-derived growth factor receptor beta gene (PDGFRB) on chromosome 5 with this gene in a myeloproliferative neoplasm featuring severe thrombocythemia. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 20. [provided by RefSeq, Dec 2014]...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.
Q5W0W2 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Q5W0W3 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system 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:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system 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:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system 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:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
A0A8J9BYE6 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
A0A8I5KP85 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KUM3 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
A0A8I5KUI5 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
A0A8I5KT40 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5QKT2 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
Q14678 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Nervous system diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515[protein binding] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0008013[beta-catenin binding] GO:0008283[cell population proliferation] GO:0010977[negative regulation of neuron projection development] GO:0016020[membrane] GO:0030036[actin cytoskeleton organization] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030336[negative regulation of cell migration] GO:0030837[negative regulation of actin filament polymerization] GO:0032587[ruffle membrane] GO:0035023[regulation of Rho protein signal transduction] GO:0035024[negative regulation of Rho protein signal transduction] GO:0042995[cell projection] GO:0046627[negative regulation of insulin receptor signaling pathway] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090303[positive regulation of wound healing] GO:0090521[podocyte cell migration] GO:1900025[negative regulation of substrate adhesion-dependent cell spreading] GO:1900028[negative regulation of ruffle assembly] GO:2000114[regulation of establishment of cell polarity] GO:2000393[negative regulation of lamellipodium morphogenesis]
A0A8I5KT40 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KXH8 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KUD8 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KRP2 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KTS9 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
A0A8I5KZ49 [Direct mapping] KN motif and ankyrin repeat domain-containing protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Other nervous and sensory system diseases Protein evidence (Ezkurdia et al 2014)
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