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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 Enzymes Human disease related genes Plasma proteins Potential drug targets RAS pathway related 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
11
Cytoband
Chromosome location (bp)
77322017 - 77474635
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Protein kinase involved in intracellular signaling pathways downstream of integrins and receptor-type kinases that plays an important role in cytoskeleton dynamics, in cell adhesion, migration, proliferation, apoptosis, mitosis, and in vesicle-mediated transport processes 1,2,3,4,5,6,7,8. Can directly phosphorylate BAD and protects cells against apoptosis (By similarity). Activated by interaction with CDC42 and RAC1 9,10. Functions as a GTPase effector that links the Rho-related GTPases CDC42 and RAC1 to the JNK MAP kinase pathway 11,12. Phosphorylates and activates MAP2K1, and thereby mediates activation of downstream MAP kinases (By similarity). Involved in the reorganization of the actin cytoskeleton, actin stress fibers and of focal adhesion complexes 13,14. Phosphorylates the tubulin chaperone TBCB and thereby plays a role in the regulation of microtubule biogenesis and organization of the tubulin cytoskeleton 15. Plays a role in the regulation of insulin secretion in response to elevated glucose levels 16. Part of a ternary complex that contains PAK1, DVL1 and MUSK that is important for MUSK-dependent regulation of AChR clustering during the formation of the neuromuscular junction (NMJ) (By similarity). Activity is inhibited in cells undergoing apoptosis, potentially due to binding of CDC2L1 and CDC2L2 17. Phosphorylates MYL9/MLC2 (By similarity). Phosphorylates RAF1 at 'Ser-338' and 'Ser-339' resulting in: activation of RAF1, stimulation of RAF1 translocation to mitochondria, phosphorylation of BAD by RAF1, and RAF1 binding to BCL2 18. Phosphorylates SNAI1 at 'Ser-246' promoting its transcriptional repressor activity by increasing its accumulation in the nucleus 19. In podocytes, promotes NR3C2 nuclear localization (By similarity). Required for atypical chemokine receptor ACKR2-induced phosphorylation of LIMK1 and cofilin (CFL1) and for the up-regulation of ACKR2 from endosomal compartment to cell membrane, increasing its efficiency in chemokine uptake and degradation 20. In synapses, seems to mediate the regulation of F-actin cluster formation performed by SHANK3, maybe through CFL1 phosphorylation and inactivation (By similarity). Plays a role in RUFY3-mediated facilitating gastric cancer cells migration and invasion 21. In response to DNA damage, phosphorylates MORC2 which activates its ATPase activity and facilitates chromatin remodeling 22. In neurons, plays a crucial role in regulating GABA(A) receptor synaptic stability and hence GABAergic inhibitory synaptic transmission through its role in F-actin stabilization (By similarity). In hippocampal neurons, necessary for the formation of dendritic spines and excitatory synapses; this function is dependent on kinase activity and may be exerted by the regulation of actomyosin contractility through the phosphorylation of myosin II regulatory light chain (MLC) (By similarity). Along with GIT1, positively regulates microtubule nucleation during interphase 23. Phosphorylates FXR1, promoting its localization to stress granules and activity 24....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 are involved in a particular biological process.
Apoptosis, Exocytosis
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
ATP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Mutations in this gene have been associated with macrocephaly, seizures, and speech delay. Overexpression of this gene is also reported in many cancer types, and particularly in breast cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2020]...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.
Q13153 [Direct mapping] Serine/threonine-protein kinase PAK 1
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Enzymes ENZYME proteins Transferases Kinases STE Ser/Thr protein kinases MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Disease related genes Potential drug targets 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)
Q13153 [Direct mapping] Serine/threonine-protein kinase PAK 1
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A0A024R5P0 [Target identity:100%; Query identity:100%] Non-specific serine/threonine protein kinase
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Enzymes ENZYME proteins Transferases Kinases STE Ser/Thr protein kinases MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Disease related genes Potential drug targets 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)
E9PQW5 [Direct mapping] Serine/threonine-protein kinase PAK 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
E9PJF8 [Direct mapping] Serine/threonine-protein kinase PAK 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
E9PM17 [Direct mapping] Serine/threonine-protein kinase PAK 1
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MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
E9PMP2 [Direct mapping] Serine/threonine-protein kinase PAK 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
E9PRP6 [Direct mapping] Serine/threonine-protein kinase PAK 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
E9PKH9 [Direct mapping] Non-specific serine/threonine protein kinase
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
B3KNX7 [Direct mapping] Non-specific serine/threonine protein kinase
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MEMSAT-SVM predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
H0YCG5 [Direct mapping] Serine/threonine-protein kinase PAK 1
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MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC RAS pathway related proteins Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
