ENSG00000188906


Homo sapiens

Features
Gene ID: ENSG00000188906
  
Biological name :LRRK2
  
Synonyms : leucine rich repeat kinase 2 / LRRK2 / Q5S007
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q12
Gene start: 40196744
Gene end: 40369285
  
Corresponding Affymetrix probe sets: 229584_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000398726
Ensembl peptide - ENSP00000341930
Ensembl peptide - ENSP00000410821
Ensembl peptide - ENSP00000493752
Ensembl peptide - ENSP00000490200
Ensembl peptide - ENSP00000298910
NCBI entrez gene - 120892     See in Manteia.
OMIM - 609007
RefSeq - XM_017018789
RefSeq - XM_005268629
RefSeq - XM_011537877
RefSeq - XM_011537881
RefSeq - XM_011537882
RefSeq - XM_017018786
RefSeq - XM_017018787
RefSeq - NM_198578
RefSeq Peptide - NP_940980
swissprot - E9PC85
swissprot - C9JBF0
swissprot - H7C3B6
swissprot - A0A1B0GUQ3
swissprot - Q5S007
Ensembl - ENSG00000188906
  
Related genetic diseases (OMIM): 607060 - {Parkinson disease 8}, 607060
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 lrrk2ENSDARG00000006169Danio rerio
 LRRK2ENSGALG00000007161Gallus gallus
 Lrrk2ENSMUSG00000036273Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
LRRK1 / Q38SD2 / leucine rich repeat kinase 1ENSG0000015423718
PRKD2 / Q9BZL6 / protein kinase D2ENSG000001052877
PRKD1 / Q15139 / protein kinase D1ENSG000001843047
PRKD3 / O94806 / protein kinase D3ENSG000001158257


Protein motifs (from Interpro)
Interpro ID Name
 IPR000719  Protein kinase domain
 IPR001611  Leucine-rich repeat
 IPR003591  Leucine-rich repeat, typical subtype
 IPR005225  Small GTP-binding protein domain
 IPR008271  Serine/threonine-protein kinase, active site
 IPR011009  Protein kinase-like domain superfamily
 IPR011989  Armadillo-like helical
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016024  Armadillo-type fold
 IPR017441  Protein kinase, ATP binding site
 IPR020859  Roc domain
 IPR025875  Leucine rich repeat 4
 IPR027417  P-loop containing nucleoside triphosphate hydrolase
 IPR032171  C-terminal of Roc (COR) domain
 IPR032675  Leucine-rich repeat domain superfamily
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade IDA
 biological_processGO:0000186 activation of MAPKK activity IDA
 biological_processGO:0000187 activation of MAPK activity IMP
 biological_processGO:0001933 negative regulation of protein phosphorylation IEA
 biological_processGO:0001934 positive regulation of protein phosphorylation IDA
 biological_processGO:0006468 protein phosphorylation IMP
 biological_processGO:0006897 endocytosis IMP
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0006979 response to oxidative stress IMP
 biological_processGO:0007005 mitochondrion organization IMP
 biological_processGO:0007030 Golgi organization IEA
 biological_processGO:0007040 lysosome organization IMP
 biological_processGO:0007283 spermatogenesis IEA
 biological_processGO:0007528 neuromuscular junction development IMP
 biological_processGO:0008340 determination of adult lifespan IMP
 biological_processGO:0009267 cellular response to starvation IMP
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0010506 regulation of autophagy IMP
 biological_processGO:0010508 positive regulation of autophagy IEA
 biological_processGO:0010738 regulation of protein kinase A signaling IEA
 biological_processGO:0010955 negative regulation of protein processing IDA
 biological_processGO:0010977 negative regulation of neuron projection development IEA
 biological_processGO:0014041 regulation of neuron maturation IMP
 biological_processGO:0016242 negative regulation of macroautophagy IMP
 biological_processGO:0016310 phosphorylation IMP
 biological_processGO:0018105 peptidyl-serine phosphorylation IDA
 biological_processGO:0018107 peptidyl-threonine phosphorylation IMP
 biological_processGO:0019722 calcium-mediated signaling IMP
 biological_processGO:0021756 striatum development IEA
 biological_processGO:0021772 olfactory bulb development IMP
 biological_processGO:0022028 tangential migration from the subventricular zone to the olfactory bulb IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031398 positive regulation of protein ubiquitination IDA
 biological_processGO:0032091 negative regulation of protein binding IMP
 biological_processGO:0032092 positive regulation of protein binding IDA
 biological_processGO:0032436 positive regulation of proteasomal ubiquitin-dependent protein catabolic process IEA
 biological_processGO:0033160 positive regulation of protein import into nucleus, translocation IEA
 biological_processGO:0034260 negative regulation of GTPase activity IDA
 biological_processGO:0034599 cellular response to oxidative stress IMP
 biological_processGO:0034613 cellular protein localization IEA
 biological_processGO:0035556 intracellular signal transduction IEA
 biological_processGO:0035564 regulation of kidney size IEA
 biological_processGO:0035640 exploration behavior IMP
 biological_processGO:0035641 locomotory exploration behavior IEA
 biological_processGO:0035751 regulation of lysosomal lumen pH IMP
 biological_processGO:0040012 regulation of locomotion IMP
 biological_processGO:0042391 regulation of membrane potential IMP
 biological_processGO:0043068 positive regulation of programmed cell death IDA
 biological_processGO:0043406 positive regulation of MAP kinase activity IC
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0046039 GTP metabolic process IDA
 biological_processGO:0046777 protein autophosphorylation IMP
 biological_processGO:0048312 intracellular distribution of mitochondria IMP
 biological_processGO:0048812 neuron projection morphogenesis IMP
 biological_processGO:0051646 mitochondrion localization IMP
 biological_processGO:0051770 positive regulation of nitric-oxide synthase biosynthetic process IEA
 biological_processGO:0051900 regulation of mitochondrial depolarization IMP
 biological_processGO:0051966 regulation of synaptic transmission, glutamatergic IEA
 biological_processGO:0060070 canonical Wnt signaling pathway TAS
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0060159 regulation of dopamine receptor signaling pathway IEA
 biological_processGO:0060161 positive regulation of dopamine receptor signaling pathway IMP
 biological_processGO:0060828 regulation of canonical Wnt signaling pathway IEA
 biological_processGO:0061001 regulation of dendritic spine morphogenesis IEA
 biological_processGO:0070585 protein localization to mitochondrion TAS
 biological_processGO:0070997 neuron death IMP
 biological_processGO:0071287 cellular response to manganese ion IMP
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 biological_processGO:0072593 reactive oxygen species metabolic process IMP
 biological_processGO:0090140 regulation of mitochondrial fission TAS
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IGI
 biological_processGO:0090394 negative regulation of excitatory postsynaptic potential IEA
 biological_processGO:0140058 neuron projection arborization IEA
 biological_processGO:1900244 positive regulation of synaptic vesicle endocytosis IEA
 biological_processGO:1901214 regulation of neuron death IMP
 biological_processGO:1901215 negative regulation of neuron death IGI
 biological_processGO:1901727 positive regulation of histone deacetylase activity IEA
 biological_processGO:1902236 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway IMP
 biological_processGO:1902499 positive regulation of protein autoubiquitination IDA
 biological_processGO:1902692 regulation of neuroblast proliferation IMP
 biological_processGO:1902803 regulation of synaptic vesicle transport IEA
 biological_processGO:1902823 negative regulation of late endosome to lysosome transport TAS
 biological_processGO:1902902 negative regulation of autophagosome assembly IMP
 biological_processGO:1903125 negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation IDA
 biological_processGO:1903206 negative regulation of hydrogen peroxide-induced cell death IMP
 biological_processGO:1903215 negative regulation of protein targeting to mitochondrion IDA
 biological_processGO:1903217 negative regulation of protein processing involved in protein targeting to mitochondrion IC
 biological_processGO:1903351 cellular response to dopamine IMP
 biological_processGO:1903980 positive regulation of microglial cell activation IEA
 biological_processGO:1904469 positive regulation of tumor necrosis factor secretion IEA
 biological_processGO:1904887 Wnt signalosome assembly TAS
 biological_processGO:1905279 regulation of retrograde transport, endosome to Golgi IGI
 biological_processGO:1905289 regulation of CAMKK-AMPK signaling cascade IMP
 biological_processGO:2000172 regulation of branching morphogenesis of a nerve IMP
 biological_processGO:2000300 regulation of synaptic vesicle exocytosis IMP
 cellular_componentGO:0005615 extracellular space HDA
 cellular_componentGO:0005622 intracellular IMP
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005741 mitochondrial outer membrane ISS
 cellular_componentGO:0005743 mitochondrial inner membrane ISS
 cellular_componentGO:0005759 mitochondrial matrix ISS
 cellular_componentGO:0005764 lysosome ISS
 cellular_componentGO:0005768 endosome ISS
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0005798 Golgi-associated vesicle IDA
 cellular_componentGO:0005802 trans-Golgi network IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005902 microvillus IDA
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016234 inclusion body IMP
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon ISS
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0030426 growth cone IDA
 cellular_componentGO:0030672 synaptic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle ISS
 cellular_componentGO:0031966 mitochondrial membrane IDA
 cellular_componentGO:0032473 cytoplasmic side of mitochondrial outer membrane IDA
 cellular_componentGO:0032839 dendrite cytoplasm IDA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043195 terminal bouton TAS
 cellular_componentGO:0043204 perikaryon ISS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0044753 amphisome IDA
 cellular_componentGO:0044754 autolysosome IDA
 cellular_componentGO:0045121 membrane raft IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0097487 multivesicular body, internal vesicle IDA
 cellular_componentGO:0098794 postsynapse IEA
 cellular_componentGO:0099400 caveola neck IDA
 cellular_componentGO:1990909 Wnt signalosome IEA
 molecular_functionGO:0000149 SNARE binding IPI
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003779 actin binding IPI
 molecular_functionGO:0003924 GTPase activity IDA
 molecular_functionGO:0004672 protein kinase activity IDA
 molecular_functionGO:0004674 protein serine/threonine kinase activity TAS
 molecular_functionGO:0004708 MAP kinase kinase activity IDA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0005525 GTP binding TAS
 molecular_functionGO:0008017 microtubule binding TAS
 molecular_functionGO:0015631 tubulin binding IDA
 molecular_functionGO:0016301 kinase activity IMP
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0017048 Rho GTPase binding IEA
 molecular_functionGO:0017075 syntaxin-1 binding IPI
 molecular_functionGO:0030159 receptor signaling complex scaffold activity IC
 molecular_functionGO:0030276 clathrin binding IPI
 molecular_functionGO:0034211 GTP-dependent protein kinase activity IDA
 molecular_functionGO:0036479 peroxidase inhibitor activity IDA
 molecular_functionGO:0039706 co-receptor binding TAS
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0051018 protein kinase A binding IPI
 molecular_functionGO:1904713 beta-catenin destruction complex binding IEA


Pathways (from Reactome)
Pathway description
PTK6 promotes HIF1A stabilization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000101213 PTK6 / Q13882 / protein tyrosine kinase 6  / complex / reaction
 ENSG00000113070 HBEGF / Q99075 / heparin binding EGF like growth factor  / reaction / complex
 ENSG00000136235 GPNMB / Q14956 / glycoprotein nmb  / complex / reaction
 ENSG00000146648 EGFR / P00533 / epidermal growth factor receptor  / reaction / complex
 ENSG00000100644 HIF1A / Q16665 / hypoxia inducible factor 1 alpha subunit  / reaction






 

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