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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 Enzymes Human disease related genes Potential drug targets Transporters
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
12
Cytoband
q12
Chromosome location (bp)
40196744 - 40369285
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16. Is a key regulator of RAB GTPases by regulating the GTP/GDP exchange and interaction partners of RABs through phosphorylation 17,18,19,20,21,22,23. Phosphorylates RAB3A, RAB3B, RAB3C, RAB3D, RAB5A, RAB5B, RAB5C, RAB8A, RAB8B, RAB10, RAB12, RAB35, and RAB43 24,25,26,27,28,29,30,31. Regulates the RAB3IP-catalyzed GDP/GTP exchange for RAB8A through the phosphorylation of 'Thr-72' on RAB8A 32. Inhibits the interaction between RAB8A and GDI1 and/or GDI2 by phosphorylating 'Thr-72' on RAB8A 33. Regulates primary ciliogenesis through phosphorylation of RAB8A and RAB10, which promotes SHH signaling in the brain 34,35. Together with RAB29, plays a role in the retrograde trafficking pathway for recycling proteins, such as mannose-6-phosphate receptor (M6PR), between lysosomes and the Golgi apparatus in a retromer-dependent manner 36. Regulates neuronal process morphology in the intact central nervous system (CNS) 37. Plays a role in synaptic vesicle trafficking 38. Plays an important role in recruiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization 39. Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway 40. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes 41. Phosphorylates PRDX3 42. By phosphorylating APP on 'Thr-743', which promotes the production and the nuclear translocation of the APP intracellular domain (AICD), regulates dopaminergic neuron apoptosis 43. Acts as a positive regulator of innate immunity by mediating phosphorylation of RIPK2 downstream of NOD1 and NOD2, thereby enhancing RIPK2 activation 44. Independent of its kinase activity, inhibits the proteasomal degradation of MAPT, thus promoting MAPT oligomerization and secretion 45. In addition, has GTPase activity via its Roc domain which regulates LRRK2 kinase activity 46,47,48,49,50....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.
Autophagy, Differentiation
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, GTP-binding, Nucleotide-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [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.
Enzymes ENZYME proteins Transferases Kinases TKL Ser/Thr protein kinases Transporters Accessory Factors Involved in Transport SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000139[Golgi membrane] GO:0000149[SNARE binding] GO:0000165[MAPK cascade] GO:0000166[nucleotide binding] GO:0000287[magnesium ion binding] GO:0001933[negative regulation of protein phosphorylation] GO:0001934[positive regulation of protein phosphorylation] GO:0003779[actin binding] GO:0003924[GTPase activity] GO:0004672[protein kinase activity] GO:0004674[protein serine/threonine kinase activity] GO:0004706[JUN kinase kinase kinase activity] GO:0004709[MAP kinase kinase kinase activity] GO:0004722[protein serine/threonine phosphatase activity] GO:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005524[ATP binding] GO:0005525[GTP binding] GO:0005615[extracellular space] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005743[mitochondrial inner membrane] GO:0005759[mitochondrial matrix] GO:0005764[lysosome] GO:0005768[endosome] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005794[Golgi apparatus] GO:0005798[Golgi-associated vesicle] GO:0005802[trans-Golgi network] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005902[microvillus] GO:0006468[protein phosphorylation] GO:0006606[protein import into nucleus] GO:0006897[endocytosis] GO:0006914[autophagy] GO:0006979[response to oxidative stress] GO:0007005[mitochondrion organization] GO:0007029[endoplasmic reticulum organization] GO:0007030[Golgi organization] GO:0007040[lysosome organization] GO:0007165[signal transduction] GO:0007254[JNK cascade] GO:0007283[spermatogenesis] GO:0007528[neuromuscular junction development] GO:0008017[microtubule binding] GO:0008021[synaptic vesicle] GO:0008104[protein localization] GO:0008340[determination of adult lifespan] GO:0009267[cellular response to starvation] GO:0009966[regulation of signal transduction] GO:0010468[regulation of gene expression] GO:0010506[regulation of autophagy] GO:0010508[positive regulation of autophagy] GO:0010738[regulation of protein kinase A signaling] GO:0010955[negative regulation of protein processing] GO:0010977[negative regulation of neuron projection development] GO:0014041[regulation of neuron maturation] GO:0015631[tubulin binding] GO:0016020[membrane] GO:0016234[inclusion body] GO:0016242[negative regulation of macroautophagy] GO:0016301[kinase activity] GO:0016310[phosphorylation] GO:0016740[transferase activity] GO:0016787[hydrolase activity] GO:0017075[syntaxin-1 binding] GO:0018105[peptidyl-serine phosphorylation] GO:0018107[peptidyl-threonine phosphorylation] GO:0019722[calcium-mediated signaling] GO:0021756[striatum development] GO:0021772[olfactory bulb development] GO:0022028[tangential migration from the subventricular zone to the olfactory bulb] GO:0030154[cell differentiation] GO:0030159[signaling receptor complex adaptor activity] GO:0030276[clathrin binding] GO:0030424[axon] GO:0030425[dendrite] GO:0030426[growth cone] GO:0030672[synaptic vesicle membrane] GO:0031267[small GTPase binding] GO:0031398[positive regulation of protein ubiquitination] GO:0031410[cytoplasmic vesicle] GO:0031647[regulation of protein stability] GO:0031966[mitochondrial membrane] GO:0032091[negative regulation of protein binding] GO:0032092[positive regulation of protein binding] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032473[cytoplasmic side of mitochondrial outer membrane] GO:0032760[positive regulation of tumor necrosis factor production] GO:0032839[dendrite cytoplasm] GO:0034211[GTP-dependent protein kinase activity] GO:0034260[negative regulation of GTPase activity] GO:0034599[cellular response to oxidative stress] GO:0035556[intracellular signal transduction] GO:0035564[regulation of kidney size] GO:0035640[exploration behavior] GO:0035641[locomotory exploration behavior] GO:0035751[regulation of lysosomal lumen pH] GO:0036479[peroxidase inhibitor activity] GO:0039706[co-receptor binding] GO:0040012[regulation of locomotion] GO:0042391[regulation of membrane potential] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0042995[cell projection] GO:0043005[neuron projection] GO:0043025[neuronal cell body] GO:0043068[positive regulation of programmed cell death] GO:0043195[terminal bouton] GO:0043204[perikaryon] GO:0043231[intracellular membrane-bounded organelle] GO:0043406[positive regulation of MAP kinase activity] GO:0044325[transmembrane transporter binding] GO:0044753[amphisome] GO:0044754[autolysosome] GO:0045121[membrane raft] GO:0045202[synapse] GO:0045860[positive regulation of protein kinase activity] GO:0046039[GTP metabolic process] GO:0046777[protein autophosphorylation] GO:0048312[intracellular distribution of mitochondria] GO:0048812[neuron projection morphogenesis] GO:0051018[protein kinase A binding] GO:0051646[mitochondrion localization] GO:0051770[positive regulation of nitric-oxide synthase biosynthetic process] GO:0051900[regulation of mitochondrial depolarization] GO:0051966[regulation of synaptic transmission, glutamatergic] GO:0060070[canonical Wnt signaling pathway] GO:0060079[excitatory postsynaptic potential] GO:0060159[regulation of dopamine receptor signaling pathway] GO:0060161[positive regulation of dopamine receptor signaling pathway] GO:0060628[regulation of ER to Golgi vesicle-mediated transport] GO:0060828[regulation of canonical Wnt signaling pathway] GO:0061001[regulation of dendritic spine morphogenesis] GO:0070062[extracellular exosome] GO:0070585[protein localization to mitochondrion] GO:0070971[endoplasmic reticulum exit site] GO:0070973[protein localization to endoplasmic reticulum exit site] GO:0070997[neuron death] GO:0071287[cellular response to manganese ion] GO:0071407[cellular response to organic cyclic compound] GO:0072593[reactive oxygen species metabolic process] GO:0090140[regulation of mitochondrial fission] GO:0090263[positive regulation of canonical Wnt signaling pathway] GO:0090394[negative regulation of excitatory postsynaptic potential] GO:0097487[multivesicular body, internal vesicle] GO:0098794[postsynapse] GO:0098978[glutamatergic synapse] GO:0099400[caveola neck] GO:0099523[presynaptic cytosol] GO:0106310[protein serine kinase activity] GO:0140058[neuron projection arborization] GO:1900242[regulation of synaptic vesicle endocytosis] GO:1900244[positive regulation of synaptic vesicle endocytosis] GO:1901214[regulation of neuron death] GO:1901215[negative regulation of neuron death] GO:1901727[positive regulation of histone deacetylase activity] GO:1902236[negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway] GO:1902499[positive regulation of protein autoubiquitination] GO:1902692[regulation of neuroblast proliferation] GO:1902803[regulation of synaptic vesicle transport] GO:1902823[negative regulation of late endosome to lysosome transport] GO:1902902[negative regulation of autophagosome assembly] GO:1903125[negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation] GO:1903206[negative regulation of hydrogen peroxide-induced cell death] GO:1903215[negative regulation of protein targeting to mitochondrion] GO:1903217[negative regulation of protein processing involved in protein targeting to mitochondrion] GO:1903351[cellular response to dopamine] GO:1903980[positive regulation of microglial cell activation] GO:1904713[beta-catenin destruction complex binding] GO:1904887[Wnt signalosome assembly] GO:1905279[regulation of retrograde transport, endosome to Golgi] GO:1905289[regulation of CAMKK-AMPK signaling cascade] GO:1990904[ribonucleoprotein complex] GO:1990909[Wnt signalosome] GO:2000172[regulation of branching morphogenesis of a nerve] GO:2000300[regulation of synaptic vesicle exocytosis] GO:2000469[negative regulation of peroxidase activity]
SCAMPI predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes 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 Cancer-related genes Mutational cancer driver genes 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 Cancer-related genes Mutational cancer driver genes Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
A0A7P0T8S1 [Direct mapping] Non-specific serine/threonine protein kinase
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SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutational cancer driver genes Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
