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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
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
7
Cytoband
q36.1
Chromosome location (bp)
151053815 - 151057897
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-type G1 cyclins. Phosphorylates SRC, NOS3, VIM/vimentin, p35/CDK5R1, MEF2A, SIPA1L1, SH3GLB1, PXN, PAK1, MCAM/MUC18, SEPT5, SYN1, DNM1, AMPH, SYNJ1, CDK16, RAC1, RHOA, CDC42, TONEBP/NFAT5, MAPT/TAU, MAP1B, histone H1, p53/TP53, HDAC1, APEX1, PTK2/FAK1, huntingtin/HTT, ATM, MAP2, NEFH and NEFM. Regulates several neuronal development and physiological processes including neuronal survival, migration and differentiation, axonal and neurite growth, synaptogenesis, oligodendrocyte differentiation, synaptic plasticity and neurotransmission, by phosphorylating key proteins. Negatively regulates the CACNA1B/CAV2.2 -mediated Ca(2+) release probability at hippocampal neuronal soma and synaptic terminals (By similarity). Activated by interaction with CDK5R1 (p35) and CDK5R2 (p39), especially in postmitotic neurons, and promotes CDK5R1 (p35) expression in an autostimulation loop. Phosphorylates many downstream substrates such as Rho and Ras family small GTPases (e.g. PAK1, RAC1, RHOA, CDC42) or microtubule-binding proteins (e.g. MAPT/TAU, MAP2, MAP1B), and modulates actin dynamics to regulate neurite growth and/or spine morphogenesis. Phosphorylates also exocytosis associated proteins such as MCAM/MUC18, SEPT5, SYN1, and CDK16/PCTAIRE1 as well as endocytosis associated proteins such as DNM1, AMPH and SYNJ1 at synaptic terminals. In the mature central nervous system (CNS), regulates neurotransmitter movements by phosphorylating substrates associated with neurotransmitter release and synapse plasticity; synaptic vesicle exocytosis, vesicles fusion with the presynaptic membrane, and endocytosis. Promotes cell survival by activating anti-apoptotic proteins BCL2 and STAT3, and negatively regulating of JNK3/MAPK10 activity. Phosphorylation of p53/TP53 in response to genotoxic and oxidative stresses enhances its stabilization by preventing ubiquitin ligase-mediated proteasomal degradation, and induces transactivation of p53/TP53 target genes, thus regulating apoptosis. Phosphorylation of p35/CDK5R1 enhances its stabilization by preventing calpain-mediated proteolysis producing p25/CDK5R1 and avoiding ubiquitin ligase-mediated proteasomal degradation. During aberrant cell-cycle activity and DNA damage, p25/CDK5 activity elicits cell-cycle activity and double-strand DNA breaks that precedes neuronal death by deregulating HDAC1. DNA damage triggered phosphorylation of huntingtin/HTT in nuclei of neurons protects neurons against polyglutamine expansion as well as DNA damage mediated toxicity. Phosphorylation of PXN reduces its interaction with PTK2/FAK1 in matrix-cell focal adhesions (MCFA) during oligodendrocytes (OLs) differentiation. Negative regulator of Wnt/beta-catenin signaling pathway. Activator of the GAIT (IFN-gamma-activated inhibitor of translation) pathway, which suppresses expression of a post-transcriptional regulon of proinflammatory genes in myeloid cells; phosphorylates the linker domain of glutamyl-prolyl tRNA synthetase (EPRS) in a IFN-gamma-dependent manner, the initial event in assembly of the GAIT complex. Phosphorylation of SH3GLB1 is required for autophagy induction in starved neurons. Phosphorylation of TONEBP/NFAT5 in response to osmotic stress mediates its rapid nuclear localization. MEF2 is inactivated by phosphorylation in nucleus in response to neurotoxin, thus leading to neuronal apoptosis. APEX1 AP-endodeoxyribonuclease is repressed by phosphorylation, resulting in accumulation of DNA damage and contributing to neuronal death. NOS3 phosphorylation down regulates NOS3-derived nitrite (NO) levels. SRC phosphorylation mediates its ubiquitin-dependent degradation and thus leads to cytoskeletal reorganization. May regulate endothelial cell migration and angiogenesis via the modulation of lamellipodia formation. Involved in dendritic spine morphogenesis by mediating the EFNA1-EPHA4 signaling. The complex p35/CDK5 participates in the regulation of the circadian clock by modulating the function of CLOCK protein: phosphorylates CLOCK at 'Thr-451' and 'Thr-461' and regulates the transcriptional activity of the CLOCK-BMAL1 heterodimer in association with altered stability and subcellular distribution....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 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 proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]...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.
Enzymes ENZYME proteins Transferases Kinases CMGC Ser/Thr protein kinases SPOCTOPUS 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 Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Enzymes ENZYME proteins Transferases Kinases CMGC Ser/Thr protein kinases SPOCTOPUS 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 Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000083[regulation of transcription involved in G1/S transition of mitotic cell cycle] GO:0000166[nucleotide binding] GO:0000226[microtubule cytoskeleton organization] GO:0000307[cyclin-dependent protein kinase holoenzyme complex] GO:0001764[neuron migration] GO:0001934[positive regulation of protein phosphorylation] GO:0001963[synaptic transmission, dopaminergic] GO:0002039[p53 binding] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004693[cyclin-dependent protein serine/threonine kinase activity] GO:0005176[ErbB-2 class receptor binding] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005874[microtubule] GO:0005886[plasma membrane] GO:0006468[protein phosphorylation] GO:0006886[intracellular protein transport] GO:0006887[exocytosis] GO:0006913[nucleocytoplasmic transport] GO:0006915[apoptotic process] GO:0007005[mitochondrion organization] GO:0007049[cell cycle] GO:0007160[cell-matrix adhesion] GO:0007268[chemical synaptic transmission] GO:0007399[nervous system development] GO:0007409[axonogenesis] GO:0007416[synapse assembly] GO:0007519[skeletal muscle tissue development] GO:0008045[motor neuron axon guidance] GO:0008092[cytoskeletal protein binding] GO:0008306[associative learning] GO:0008542[visual learning] GO:0009611[response to wounding] GO:0014044[Schwann cell development] GO:0014069[postsynaptic density] GO:0016020[membrane] GO:0016079[synaptic vesicle exocytosis] GO:0016241[regulation of macroautophagy] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016477[cell migration] GO:0016533[protein kinase 5 complex] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019233[sensory perception of pain] GO:0019901[protein kinase binding] GO:0021537[telencephalon development] GO:0021549[cerebellum development] GO:0021695[cerebellar cortex development] GO:0021697[cerebellar cortex formation] GO:0021766[hippocampus development] GO:0021819[layer formation in cerebral cortex] GO:0021954[central nervous system neuron development] GO:0021987[cerebral cortex development] GO:0022038[corpus callosum development] GO:0030027[lamellipodium] GO:0030054[cell junction] GO:0030175[filopodium] GO:0030182[neuron differentiation] GO:0030334[regulation of cell migration] GO:0030424[axon] GO:0030425[dendrite] GO:0030426[growth cone] GO:0030517[negative regulation of axon extension] GO:0030549[acetylcholine receptor activator activity] GO:0030866[cortical actin cytoskeleton organization] GO:0030900[forebrain development] GO:0031175[neuron projection development] GO:0031397[negative regulation of protein ubiquitination] GO:0031594[neuromuscular junction] GO:0031914[negative regulation of synaptic plasticity] GO:0032092[positive regulation of protein binding] GO:0032801[receptor catabolic process] GO:0034352[positive regulation of glial cell apoptotic process] GO:0035173[histone kinase activity] GO:0035249[synaptic transmission, glutamatergic] GO:0035418[protein localization to synapse] GO:0042220[response to cocaine] GO:0042501[serine phosphorylation of STAT protein] GO:0042981[regulation of apoptotic process] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043113[receptor clustering] GO:0043125[ErbB-3 class receptor binding] GO:0043204[perikaryon] GO:0043525[positive regulation of neuron apoptotic process] GO:0045055[regulated exocytosis] GO:0045202[synapse] GO:0045786[negative regulation of cell cycle] GO:0045860[positive regulation of protein kinase activity] GO:0045861[negative regulation of proteolysis] GO:0045892[negative regulation of DNA-templated transcription] GO:0045956[positive regulation of calcium ion-dependent exocytosis] GO:0046777[protein autophosphorylation] GO:0046826[negative regulation of protein export from nucleus] GO:0046875[ephrin receptor binding] GO:0048148[behavioral response to cocaine] GO:0048156[tau protein binding] GO:0048167[regulation of synaptic plasticity] GO:0048488[synaptic vesicle endocytosis] GO:0048489[synaptic vesicle transport] GO:0048511[rhythmic process] GO:0048675[axon extension] GO:0048709[oligodendrocyte differentiation] GO:0048812[neuron projection morphogenesis] GO:0048813[dendrite morphogenesis] GO:0050321[tau-protein kinase activity] GO:0051301[cell division] GO:0051402[neuron apoptotic process] GO:0051649[establishment of localization in cell] GO:0051726[regulation of cell cycle] GO:0051879[Hsp90 protein binding] GO:0051966[regulation of synaptic transmission, glutamatergic] GO:0060078[regulation of postsynaptic membrane potential] GO:0060079[excitatory postsynaptic potential] GO:0061001[regulation of dendritic spine morphogenesis] GO:0070509[calcium ion import] GO:0090314[positive regulation of protein targeting to membrane] GO:0098685[Schaffer collateral - CA1 synapse] GO:0098793[presynapse] GO:0098794[postsynapse] GO:0098978[glutamatergic synapse] GO:0099509[regulation of presynaptic cytosolic calcium ion concentration] GO:0099533[positive regulation of presynaptic cytosolic calcium concentration] GO:0106310[protein serine kinase activity] GO:1901215[negative regulation of neuron death] GO:1901216[positive regulation of neuron death] GO:1901387[positive regulation of voltage-gated calcium channel activity] GO:1903076[regulation of protein localization to plasma membrane] GO:1903421[regulation of synaptic vesicle recycling] GO:1904646[cellular response to amyloid-beta] GO:1905806[regulation of synapse pruning] GO:2000251[positive regulation of actin cytoskeleton reorganization]
The Human Protein Atlas project is funded
