CDK5 (cyclin dependent kinase 5)

Gene

• Entrez ID: 1020
• Gene name: Cyclin dependent kinase 5
• Gene symbol: CDK5
• Synonyms: LIS7, PSSALRE
• Chromosome: 7
• Chromosome location: 7q36.1
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205164	C>T	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020734	hsa-miR-155-5p	Proteomics	18668040

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	IBA	21873635
GO:0000226	Process	Microtubule cytoskeleton organization	TAS	17491008
GO:0001764	Process	Neuron migration	TAS	21473899
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0002039	Function	P53 binding	IEA
GO:0004672	Function	Protein kinase activity	TAS	1639063, 7834371
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	20357208, 21145489
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	28386764
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IBA	21873635
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	TAS
GO:0005176	Function	ErbB-2 class receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	8090221, 12223541, 14521924, 15689152, 15890360, 20133653, 20559324, 21220307, 22078880, 23455922, 23602568, 25416956, 25852190, 26871637, 27107012, 28514442, 30833792, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	TAS	17491008
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006913	Process	Nucleocytoplasmic transport	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	21473899
GO:0007409	Process	Axonogenesis	IBA	21873635
GO:0007416	Process	Synapse assembly	TAS	21473899
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008017	Function	Microtubule binding	TAS	17491008
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	ISS
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	21473899
GO:0016241	Process	Regulation of macroautophagy	TAS	21499257
GO:0016301	Function	Kinase activity	ISS
GO:0016310	Process	Phosphorylation	IDA	20357208
GO:0016533	Component	Protein kinase 5 complex	IEA
GO:0016572	Process	Histone phosphorylation	IEA
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	21145489
GO:0018105	Process	Peptidyl-serine phosphorylation	ISS
GO:0018107	Process	Peptidyl-threonine phosphorylation	ISS
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0021697	Process	Cerebellar cortex formation	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030175	Component	Filopodium	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030182	Process	Neuron differentiation	TAS	21473899
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	ISS
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0030549	Function	Acetylcholine receptor activator activity	ISS
GO:0030866	Process	Cortical actin cytoskeleton organization	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0031175	Process	Neuron projection development	TAS	17491008
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0031594	Component	Neuromuscular junction	ISS
GO:0031914	Process	Negative regulation of synaptic plasticity	IEA
GO:0032092	Process	Positive regulation of protein binding	IEA
GO:0032801	Process	Receptor catabolic process	IEA
GO:0034352	Process	Positive regulation of glial cell apoptotic process	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0042501	Process	Serine phosphorylation of STAT protein	IEA
GO:0042981	Process	Regulation of apoptotic process	TAS	21473899
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043113	Process	Receptor clustering	IEA
GO:0043125	Function	ErbB-3 class receptor binding	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045860	Process	Positive regulation of protein kinase activity	IEA
GO:0045861	Process	Negative regulation of proteolysis	IMP	24548080
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	20357208
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0046777	Process	Protein autophosphorylation	IEA
GO:0046826	Process	Negative regulation of protein export from nucleus	IEA
GO:0046875	Function	Ephrin receptor binding	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	TAS	21473899, 24607229
GO:0048488	Process	Synaptic vesicle endocytosis	TAS	21473899
GO:0048489	Process	Synaptic vesicle transport	IBA	21873635
GO:0048511	Process	Rhythmic process	IEA
GO:0048675	Process	Axon extension	TAS	21473899
GO:0048709	Process	Oligodendrocyte differentiation	IDA	18042622
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0050321	Function	Tau-protein kinase activity	ISS
GO:0050321	Function	Tau-protein kinase activity	NAS	28386764
GO:0051301	Process	Cell division	IEA
GO:0051402	Process	Neuron apoptotic process	IBA	21873635
GO:0051402	Process	Neuron apoptotic process	TAS	21473899
GO:0051879	Function	Hsp90 protein binding	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0070509	Process	Calcium ion import	IEA
GO:0071156	Process	Regulation of cell cycle arrest	TAS	21473899
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098883	Process	Synapse pruning	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099601	Process	Regulation of neurotransmitter receptor activity	IEA
GO:0099635	Function	Voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels	IEA
GO:0099703	Process	Induction of synaptic vesicle exocytosis by positive regulation of presynaptic cytosolic calcium ion concentration	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1901215	Process	Negative regulation of neuron death	IDA	24548080
GO:1901387	Process	Positive regulation of voltage-gated calcium channel activity	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1903076	Process	Regulation of protein localization to plasma membrane	ISS
GO:1903421	Process	Regulation of synaptic vesicle recycling	NAS	22745285
GO:1904646	Process	Cellular response to amyloid-beta	ISS
GO:2000251	Process	Positive regulation of actin cytoskeleton reorganization	TAS	21473899

Other IDs

• MIM: 123831
• HGNC: 1774
• e!Ensembl: ENSG00000164885

Protein

• UniProt ID: Q00535
• Protein name: Cyclin-dependent kinase 5 (EC 2.7.11.1) (Cell division protein kinase 5) (Cyclin-dependent-like kinase 5) (Serine/threonine-protein kinase PSSALRE) (Tau protein kinase II catalytic subunit) (TPKII catalytic subunit)
• Protein function: 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-t
• PDB: 1H4L, 1UNG, 1UNH, 1UNL, 3O0G, 4AU8, 7VDP, 7VDQ, 7VDR, 7VDS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	4 → 286	Protein kinase domain	Domain

• Sequence:

  MQKYEKLEKIGEGTYGTVFKAKNRETHEIVALKRVRLDDDDEGVPSSALREICLLKELKH
  KNIVRLHDVLHSDKKLTLVFEFCDQDLKKYFDSCNGDLDPEIVKSFLFQLLKGLGFCHSR
  NVLHRDLKPQNLLINRNGELKLADFGLARAFGIPVRCYSAEVVTLWYRPPDVLFGAKLYS
  TSIDMWSAGCIFAELANAGRPLFPGNDVDDQLKRIFRLLGTPTEEQWPSMTKLPDYKPYP
  MYPATTSLVNVVPKLNATGRDLLQNLLKCNPVQRISAEEALQHPYFSDFCPP

• Sequence length: 292

Pathways

KEGG:

Axon guidance
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Cocaine addiction

Reactome:

DARPP-32 events
CRMPs in Sema3A signaling
Regulation of TP53 Activity through Phosphorylation
Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Lissencephaly	Lissencephaly	rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489, rs121434490, rs104894779, rs104894780, rs104894781, rs122457137, rs104894782, rs56030372, rs104894786, rs113994203, rs113994200, rs113994198, rs113994202, rs281875328, rs281875329, rs387906840, rs756206942, rs749768828, rs397509412, rs398122369, rs587784484, rs587784483, rs587784482, rs587784481, rs587784497, rs587784495, rs587784494, rs587784492, rs587784488, rs587784486, rs587784485, rs587784491, rs576928842, rs587784265, rs587784260, rs587784262, rs587784272, rs587784285, rs369259961, rs587784250, rs587784252, rs587784253, rs587784257, rs587784256, rs587784258, rs587784259, rs587784261, rs587784263, rs587784264, rs587784266, rs587784267, rs587784268, rs587784269, rs200390886, rs587784270, rs587784271, rs587784273, rs587784274, rs587784275, rs587784276, rs587784277, rs587784278, rs587784281, rs587784279, rs587784280, rs587784282, rs587784284, rs587784286, rs587784287, rs587784289, rs587784291, rs587784290, rs587784292, rs587784293, rs587784294, rs587784235, rs587784236, rs587784237, rs587784238, rs587784239, rs587784240, rs587784241, rs587784242, rs587784244, rs587784243, rs587784245, rs587784247, rs587784248, rs587784249, rs587784251, rs587783592, rs587783590, rs587783589, rs587783568, rs587783558, rs104894784, rs587783534, rs587783519, rs794729199, rs797045005, rs797045177, rs797045178, rs797045061, rs797046071, rs797046073, rs797046072, rs797045529, rs797045866, rs797045857, rs797045858, rs797045859, rs797045861, rs797045863, rs797045864, rs797045865, rs797045867, rs797045868, rs797045869, rs797045870, rs797045871, rs797045872, rs1555527743, rs797045855, rs797045512, rs863224938, rs757725348, rs886039513, rs886041341, rs886043627, rs1057517696, rs1057517697, rs1057519417, rs754200057, rs1057517698, rs1057517843, rs1057520515, rs1064796460, rs1064793286, rs1064794568, rs1064796765, rs1064794223, rs1131691295, rs1555162507, rs1554126886, rs1555162294, rs1555162456, rs1456594953, rs1555526718, rs1555526733, rs1555527149, rs1556401744, rs1556401951, rs1555162325, rs1556405129, rs761786389, rs1555162323, rs1555526298, rs1555526309, rs1567559851, rs1565627513, rs1488808726, rs1557668270, rs1557670503, rs1557670515, rs1557670520, rs757604577, rs1565626928, rs1565627526, rs1565627727, rs1592260393, rs1565627777, rs1603423268, rs1592259391, rs2069271269, rs1942168488, rs1942171146, rs1942172759, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1942166930, rs1942187200
Lissencephaly with cerebellar hypoplasia	LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA	rs786205164	25560765
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	21772061

Unknown
Disease name	Disease term	dbSNP ID	References
Agyria	Agyria
Cerebellar hypoplasia	Cerebellar Hypoplasia
Micrognathism	Micrognathism
Tauopathies	Tauopathies		26945731