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Protein

Leucine-rich repeat serine/threonine-protein kinase 2

Gene

LRRK2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Positively regulates autophagy through a calcium-dependent activation of the CaMKK/AMPK signaling pathway. The process involves activation of nicotinic acid adenine dinucleotide phosphate (NAADP) receptors, increase in lysosomal pH, and calcium release from lysosomes. 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. Regulates neuronal process morphology in the intact central nervous system (CNS). Plays a role in synaptic vesicle trafficking. Phosphorylates PRDX3. Has GTPase activity. May play a role in the phosphorylation of proteins central to Parkinson disease. Plays an important role in recuiting SEC16A to endoplasmic reticulum exit sites (ERES) and in regulating ER to Golgi vesicle-mediated transport and ERES organization (PubMed:25201882).8 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei1906ATPPROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei1994Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi1341 – 1348GTPPROSITE-ProRule annotation1 Publication8
Nucleotide bindingi1885 – 1893ATPPROSITE-ProRule annotation9
Nucleotide bindingi2098 – 2121GTPPROSITE-ProRule annotationAdd BLAST24
Nucleotide bindingi2295 – 2298GTPPROSITE-ProRule annotation4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation, Kinase, Serine/threonine-protein kinase, Transferase
Biological processAutophagy, Differentiation
LigandATP-binding, GTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-8857538 PTK6 promotes HIF1A stabilization

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q5S007

SIGNOR Signaling Network Open Resource

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SIGNORi
Q5S007

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Leucine-rich repeat serine/threonine-protein kinase 2 (EC:2.7.11.1)
Alternative name(s):
Dardarin
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:LRRK2
Synonyms:PARK8
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000188906.13

Human Gene Nomenclature Database

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HGNCi
HGNC:18618 LRRK2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609007 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5S007

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell junction, Cell projection, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Golgi apparatus, Lysosome, Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion outer membrane, Synapse

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Parkinson disease 8 (PARK8)34 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA slowly progressive neurodegenerative disorder characterized by bradykinesia, rigidity, resting tremor, postural instability, neuronal loss in the substantia nigra, and the presence of neurofibrillary MAPT (tau)-positive and Lewy bodies in some patients.
See also OMIM:607060
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_054741712M → V in PARK8. 1 PublicationCorresponds to variant dbSNP:rs199566791EnsemblClinVar.1
Natural variantiVAR_024935793R → M in PARK8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs35173587EnsemblClinVar.1
Natural variantiVAR_024936930Q → R in PARK8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs281865045EnsemblClinVar.1
Natural variantiVAR_0249381067R → Q in PARK8. 1 PublicationCorresponds to variant dbSNP:rs111341148EnsemblClinVar.1
Natural variantiVAR_0249391096S → C in PARK8; unknown pathological significance. Corresponds to variant dbSNP:rs76535406EnsemblClinVar.1
Natural variantiVAR_0249401122I → V in PARK8. 2 PublicationsCorresponds to variant dbSNP:rs34805604EnsemblClinVar.1
Natural variantiVAR_0249411228S → T in PARK8. 1 PublicationCorresponds to variant dbSNP:rs60185966EnsemblClinVar.1
Natural variantiVAR_0249431371I → V in PARK8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs17466213EnsemblClinVar.1
Natural variantiVAR_0249451441R → C in PARK8; shows an increase in activity in both autophosphorylation and phosphorylation of a generic substrate; loss of interaction with SEC16A. 7 PublicationsCorresponds to variant dbSNP:rs33939927EnsemblClinVar.1
Natural variantiVAR_0249461441R → G in PARK8; shows a progressive reduction in neurite length and branching. 5 PublicationsCorresponds to variant dbSNP:rs33939927EnsemblClinVar.1
Natural variantiVAR_0249471441R → H in PARK8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34995376EnsemblClinVar.1
Natural variantiVAR_0249481514R → Q in PARK8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs35507033EnsemblClinVar.1
Natural variantiVAR_0249491542P → S in PARK8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs33958906EnsemblClinVar.1
Natural variantiVAR_0249501598V → E in PARK8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs721710EnsemblClinVar.1
Natural variantiVAR_0249541699Y → C in PARK8; shows no progressive reduction in neurite length and branching; no loss of interaction with SEC16A. 6 PublicationsCorresponds to variant dbSNP:rs35801418EnsemblClinVar.1
Natural variantiVAR_0547441728R → H in PARK8. 1 PublicationCorresponds to variant dbSNP:rs145364431EnsemblClinVar.1
Natural variantiVAR_0547451728R → L in PARK8. 1 PublicationCorresponds to variant dbSNP:rs145364431EnsemblClinVar.1
Natural variantiVAR_0249551869M → T in PARK8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs35602796EnsemblClinVar.1
Natural variantiVAR_0249561941R → H in PARK8. 1 PublicationCorresponds to variant dbSNP:rs77428810EnsemblClinVar.1
Natural variantiVAR_0249572012I → T in PARK8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34015634EnsemblClinVar.1
Natural variantiVAR_0249582019G → S in PARK8; shows an increase in activity in both autophosphorylation and phosphorylation of a generic substrate; results in increased PRDX3 phosphorylation promoting dysregulation of mitochondrial function and oxidative damage; does not inhibit interaction with RAB29; shows a progressive reduction in neurite length and branching; shows distinctive spheroid-like inclusions within both neuronal processes and at intracellular membranous structures; shows lysosomal swelling and reduced retrograde transport of selective cargo between lysosomes and the Golgi apparatus; shows apoptotic mechanism of cell death; no loss of interaction with SEC16A. 29 PublicationsCorresponds to variant dbSNP:rs34637584EnsemblClinVar.1
Natural variantiVAR_0249592020I → T in PARK8; significant increase in autophosphorylation of about 40% in comparison to wild-type protein in vitro; shows a progressive reduction in neurite length and branching. 6 PublicationsCorresponds to variant dbSNP:rs35870237EnsemblClinVar.1
Natural variantiVAR_0547472141T → M in PARK8. 1 PublicationCorresponds to variant dbSNP:rs111691891EnsemblClinVar.1
Natural variantiVAR_0547482143R → H in PARK8. 1 PublicationCorresponds to variant dbSNP:rs201271001EnsemblClinVar.1
Natural variantiVAR_0249632356T → I in PARK8. 1 PublicationCorresponds to variant dbSNP:rs113511708EnsemblClinVar.1
Natural variantiVAR_0547502466L → H in PARK8. 1 PublicationCorresponds to variant dbSNP:rs281865057EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi1343T → G: Decreased kinase activity; when associated with Q-1398. 1 Publication1
Mutagenesisi1347K → A: GTPase-dead mutant. Loss of interaction with SEC16A and impaired ability to recruit SEC16A to endoplasmic reticulum exit sites. 1 Publication1
Mutagenesisi1398R → Q: Decreased kinase activity; when associated with G-1343. 1 Publication1
Mutagenesisi1994D → N: Kinase-dead mutant. No loss of interaction with SEC16A and no loss of ability to recruit SEC16A to endoplasmic reticulum exit sites. 1 Publication1

Keywords - Diseasei

Disease mutation, Neurodegeneration, Parkinson disease, Parkinsonism

Organism-specific databases

DisGeNET

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DisGeNETi
120892

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
LRRK2

MalaCards human disease database

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MalaCardsi
LRRK2
MIMi168600 phenotype
607060 phenotype

Open Targets

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OpenTargetsi
ENSG00000188906

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
411602 Hereditary late-onset Parkinson disease
2828 Young-onset Parkinson disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134968052

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1075104

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
2059

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
LRRK2

Domain mapping of disease mutations (DMDM)

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DMDMi
294862450

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000862381 – 2527Leucine-rich repeat serine/threonine-protein kinase 2Add BLAST2527

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei935PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Autophosphorylated.

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q5S007

MaxQB - The MaxQuant DataBase

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MaxQBi
Q5S007

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q5S007

PeptideAtlas

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PeptideAtlasi
Q5S007

PRoteomics IDEntifications database

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PRIDEi
Q5S007

ProteomicsDB human proteome resource

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ProteomicsDBi
63755

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q5S007

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q5S007

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in the brain. Expressed in pyramidal neurons in all cortical laminae of the visual cortex, in neurons of the substantia nigra pars compacta and caudate putamen (at protein level). Expressed throughout the adult brain, but at a lower level than in heart and liver. Also expressed in placenta, lung, skeletal muscle, kidney and pancreas. In the brain, expressed in the cerebellum, cerebral cortex, medulla, spinal cord occipital pole, frontal lobe, temporal lobe and putamen. Expression is particularly high in brain dopaminoceptive areas.4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000188906 Expressed in 166 organ(s), highest expression level in visceral pleura

CleanEx database of gene expression profiles

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CleanExi
HS_LRRK2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q5S007 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q5S007 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB037160
HPA014293

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer. Interacts with PRKN, PRDX3, RAB29, TPCN2 and VPS35. Interacts (via ROC domain) with SEC16A (PubMed:25201882).7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
itself68EBI-5323863,EBI-5323863
AGO2Q9UKV83EBI-5323863,EBI-528269
AKT1P317496EBI-5323863,EBI-296087
ANKS4BQ8N8V42EBI-5323863,EBI-9658517
ARFGAP1Q8N6T3-26EBI-5323863,EBI-6288865
Arfgap1Q628487EBI-5323863,EBI-4398879From Rattus norvegicus.
ARHGEF7Q141557EBI-5323863,EBI-717515
BAG2O958163EBI-5323863,EBI-355275
BAG3O958172EBI-5323863,EBI-747185
BAG5Q9UL1512EBI-5323863,EBI-356517
BCL2P10415-12EBI-5323863,EBI-4370304
CDC37Q165437EBI-5323863,EBI-295634
CDC42P609533EBI-5323863,EBI-81752
CDC42EP3Q9UKI22EBI-5323863,EBI-723480
CHGBP050603EBI-5323863,EBI-712619
Ckmt1P302752EBI-5323863,EBI-773103From Mus musculus.
CSNK1A1P48729-12EBI-5323863,EBI-10106282
CUEDC1Q9NWM32EBI-5323863,EBI-5838167
DAPK1P533552EBI-5323863,EBI-358616
DNM1Q051934EBI-5323863,EBI-713135
Dnm1P390533EBI-5323863,EBI-397785From Mus musculus.
DNM1LO0042911EBI-5323863,EBI-724571
DNM1LO00429-32EBI-5323863,EBI-6896746
DVL1O14640-27EBI-5323863,EBI-6504027
DVL2O146413EBI-5323863,EBI-740850
DVL3Q929974EBI-5323863,EBI-739789
ECHS1P300842EBI-5323863,EBI-719602
FADDQ131584EBI-5323863,EBI-494804
GAKO1497611EBI-5323863,EBI-714707
GSK3BP498417EBI-5323863,EBI-373586
HSPA8P111425EBI-5323863,EBI-351896
LDHBP071952EBI-5323863,EBI-358748
LRP6O755814EBI-5323863,EBI-910915
LRRK1Q38SD25EBI-5323863,EBI-1050422
MAP1BP468215EBI-5323863,EBI-9517186
MAP2K3P467345EBI-5323863,EBI-602462
MAP2K6P525644EBI-5323863,EBI-448135
MAP2K7O147333EBI-5323863,EBI-492605
MAPTP10636-23EBI-5323863,EBI-7796412
MAPTP10636-89EBI-5323863,EBI-366233
MATKP426792EBI-5323863,EBI-751664
MBPP026873EBI-5323863,EBI-908215From Bos taurus.
Mfn1Q811U43EBI-5323863,EBI-9029118From Mus musculus.
MFN2O951403EBI-5323863,EBI-3324756
MSNP2603817EBI-5323863,EBI-528768
NDUFAF7Q7L5922EBI-5323863,EBI-2555519
NEK1Q96PY62EBI-5323863,EBI-373615
NFATC2Q134693EBI-5323863,EBI-716258
NUP133Q8WUM02EBI-5323863,EBI-295695
OPA1O603133EBI-5323863,EBI-1054131
PAK6Q9NQU52EBI-5323863,EBI-1053685
phoAP006342EBI-5323863,EBI-552958From Escherichia coli (strain K12).
PPP1CAP621366EBI-5323863,EBI-357253
PRDX3P3004812EBI-5323863,EBI-748336
PRKACAP176126EBI-5323863,EBI-476586
Prkar2bP123693EBI-5323863,EBI-6096160From Rattus norvegicus.
PRKNO602603EBI-5323863,EBI-716346
RAB10P610265EBI-5323863,EBI-726075
RAB12Q6IQ222EBI-5323863,EBI-4289591
RAB1BQ9H0U43EBI-5323863,EBI-1045214
RAB29O149667EBI-5323863,EBI-372165
Rab29Q634813EBI-5323863,EBI-6513837From Rattus norvegicus.
RAB32Q136376EBI-5323863,EBI-9837586
RAB5BP610209EBI-5323863,EBI-399401
Rab5bP610212EBI-5323863,EBI-8320093From Mus musculus.
RAB8AP610066EBI-5323863,EBI-722293
RAC1P630005EBI-5323863,EBI-413628
RGS2P412206EBI-5323863,EBI-712388
RPL10AP629062EBI-5323863,EBI-356860
RPL13P263732EBI-5323863,EBI-356849
RPL14P509142EBI-5323863,EBI-356746
RPL23AP627502EBI-5323863,EBI-353254
RPS11P622803EBI-5323863,EBI-1047710
RPS15P628419EBI-5323863,EBI-372635
RPS16P622492EBI-5323863,EBI-352480
RPS2P158802EBI-5323863,EBI-443446
RPS20P608662EBI-5323863,EBI-353105
RPS23P622662EBI-5323863,EBI-353072
RPS27P426772EBI-5323863,EBI-356336
RPS3P233962EBI-5323863,EBI-351193
SEC16AO150276EBI-5323863,EBI-357515
SH3GL2Q999624EBI-5323863,EBI-77938
SLC25A4P122352EBI-5323863,EBI-359074
SLC25A5P051412EBI-5323863,EBI-355133
SLC25A6P122362EBI-5323863,EBI-356254
SNAPINO952955EBI-5323863,EBI-296723
SNCAP378406EBI-5323863,EBI-985879
Spag9Q58A652EBI-5323863,EBI-6530207From Mus musculus.
STUB1Q9UNE72EBI-5323863,EBI-357085
STUB1Q9UNE7-12EBI-5323863,EBI-15687717
Stub1Q9WUD12EBI-5323863,EBI-773027From Mus musculus.
TUBBP074374EBI-5323863,EBI-350864
TUBB4AP043504EBI-5323863,EBI-355007
WSB1Q9Y6I75EBI-5323863,EBI-1171494
YWHABP319465EBI-5323863,EBI-359815
YWHAEP622586EBI-5323863,EBI-356498
YWHAGP619814EBI-5323863,EBI-359832
YwhagP619836EBI-5323863,EBI-359821From Rattus norvegicus.
YWHAHQ049173EBI-5323863,EBI-306940
YWHAQP273488EBI-5323863,EBI-359854
YWHAZP631049EBI-5323863,EBI-347088
ZRANB2O952182EBI-5323863,EBI-1051583

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
125700, 156 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q5S007

Database of interacting proteins

More...
DIPi
DIP-29684N

Protein interaction database and analysis system

More...
IntActi
Q5S007, 619 interactors

Molecular INTeraction database

More...
MINTi
Q5S007

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000298910

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q5S007

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

12527
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5S007

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q5S007

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q5S007

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati983 – 1004LRR 1Add BLAST22
Repeati1012 – 1033LRR 2Add BLAST22
Repeati1036 – 1057LRR 3Add BLAST22
Repeati1059 – 1080LRR 4Add BLAST22
Repeati1084 – 1105LRR 5Add BLAST22
Repeati1108 – 1129LRR 6Add BLAST22
Repeati1130 – 1150LRR 7Add BLAST21
Repeati1174 – 1196LRR 8Add BLAST23
Repeati1197 – 1218LRR 9Add BLAST22
Repeati1221 – 1241LRR 10Add BLAST21
Repeati1246 – 1267LRR 11Add BLAST22
Repeati1269 – 1291LRR 12Add BLAST23
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1328 – 1511RocPROSITE-ProRule annotationAdd BLAST184
Domaini1879 – 2138Protein kinasePROSITE-ProRule annotationAdd BLAST260
Repeati2139 – 2183WD 1Add BLAST45
Repeati2188 – 2228WD 2Add BLAST41
Repeati2233 – 2276WD 3Add BLAST44
Repeati2281 – 2327WD 4Add BLAST47
Repeati2333 – 2377WD 5Add BLAST45
Repeati2402 – 2438WD 6Add BLAST37
Repeati2443 – 2497WD 7Add BLAST55

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili319 – 348Sequence analysisAdd BLAST30

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi728 – 731Poly-Leu4

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The seven-bladed WD repeat region is critical for synaptic vesicle trafficking and mediates interaction with multiple vesicle-associated presynaptic proteins.1 Publication
The Roc domain mediates homodimerization and regulates kinase activity.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IRBK Eukaryota
KOG0192 Eukaryota
COG1100 LUCA
COG4886 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000158267

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000293315

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG081937

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5S007

KEGG Orthology (KO)

More...
KOi
K08844

Identification of Orthologs from Complete Genome Data

More...
OMAi
VMLSMLM

Database of Orthologous Groups

More...
OrthoDBi
EOG091G003N

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5S007

TreeFam database of animal gene trees

More...
TreeFami
TF313679

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 2 hits
1.25.40.20, 1 hit
2.130.10.10, 1 hit
3.80.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036770 Ankyrin_rpt-contain_sf
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR032171 COR
IPR011009 Kinase-like_dom_sf
IPR001611 Leu-rich_rpt
IPR003591 Leu-rich_rpt_typical-subtyp
IPR032675 LRR_dom_sf
IPR027417 P-loop_NTPase
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR020859 ROC_dom
IPR008271 Ser/Thr_kinase_AS
IPR005225 Small_GTP-bd_dom
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF16095 COR, 1 hit
PF13855 LRR_8, 1 hit
PF00069 Pkinase, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00369 LRR_TYP, 7 hits
SM00220 S_TKc, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 2 hits
SSF50978 SSF50978, 1 hit
SSF52540 SSF52540, 1 hit
SSF56112 SSF56112, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00231 small_GTP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51450 LRR, 11 hits
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit
PS51424 ROC, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q5S007-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MASGSCQGCE EDEETLKKLI VRLNNVQEGK QIETLVQILE DLLVFTYSER
60 70 80 90 100
ASKLFQGKNI HVPLLIVLDS YMRVASVQQV GWSLLCKLIE VCPGTMQSLM
110 120 130 140 150
GPQDVGNDWE VLGVHQLILK MLTVHNASVN LSVIGLKTLD LLLTSGKITL
160 170 180 190 200
LILDEESDIF MLIFDAMHSF PANDEVQKLG CKALHVLFER VSEEQLTEFV
210 220 230 240 250
ENKDYMILLS ALTNFKDEEE IVLHVLHCLH SLAIPCNNVE VLMSGNVRCY
260 270 280 290 300
NIVVEAMKAF PMSERIQEVS CCLLHRLTLG NFFNILVLNE VHEFVVKAVQ
310 320 330 340 350
QYPENAALQI SALSCLALLT ETIFLNQDLE EKNENQENDD EGEEDKLFWL
360 370 380 390 400
EACYKALTWH RKNKHVQEAA CWALNNLLMY QNSLHEKIGD EDGHFPAHRE
410 420 430 440 450
VMLSMLMHSS SKEVFQASAN ALSTLLEQNV NFRKILLSKG IHLNVLELMQ
460 470 480 490 500
KHIHSPEVAE SGCKMLNHLF EGSNTSLDIM AAVVPKILTV MKRHETSLPV
510 520 530 540 550
QLEALRAILH FIVPGMPEES REDTEFHHKL NMVKKQCFKN DIHKLVLAAL
560 570 580 590 600
NRFIGNPGIQ KCGLKVISSI VHFPDALEML SLEGAMDSVL HTLQMYPDDQ
610 620 630 640 650
EIQCLGLSLI GYLITKKNVF IGTGHLLAKI LVSSLYRFKD VAEIQTKGFQ
660 670 680 690 700
TILAILKLSA SFSKLLVHHS FDLVIFHQMS SNIMEQKDQQ FLNLCCKCFA
710 720 730 740 750
KVAMDDYLKN VMLERACDQN NSIMVECLLL LGADANQAKE GSSLICQVCE
760 770 780 790 800
KESSPKLVEL LLNSGSREQD VRKALTISIG KGDSQIISLL LRRLALDVAN
810 820 830 840 850
NSICLGGFCI GKVEPSWLGP LFPDKTSNLR KQTNIASTLA RMVIRYQMKS
860 870 880 890 900
AVEEGTASGS DGNFSEDVLS KFDEWTFIPD SSMDSVFAQS DDLDSEGSEG
910 920 930 940 950
SFLVKKKSNS ISVGEFYRDA VLQRCSPNLQ RHSNSLGPIF DHEDLLKRKR
960 970 980 990 1000
KILSSDDSLR SSKLQSHMRH SDSISSLASE REYITSLDLS ANELRDIDAL
1010 1020 1030 1040 1050
SQKCCISVHL EHLEKLELHQ NALTSFPQQL CETLKSLTHL DLHSNKFTSF
1060 1070 1080 1090 1100
PSYLLKMSCI ANLDVSRNDI GPSVVLDPTV KCPTLKQFNL SYNQLSFVPE
1110 1120 1130 1140 1150
NLTDVVEKLE QLILEGNKIS GICSPLRLKE LKILNLSKNH ISSLSENFLE
1160 1170 1180 1190 1200
ACPKVESFSA RMNFLAAMPF LPPSMTILKL SQNKFSCIPE AILNLPHLRS
1210 1220 1230 1240 1250
LDMSSNDIQY LPGPAHWKSL NLRELLFSHN QISILDLSEK AYLWSRVEKL
1260 1270 1280 1290 1300
HLSHNKLKEI PPEIGCLENL TSLDVSYNLE LRSFPNEMGK LSKIWDLPLD
1310 1320 1330 1340 1350
ELHLNFDFKH IGCKAKDIIR FLQQRLKKAV PYNRMKLMIV GNTGSGKTTL
1360 1370 1380 1390 1400
LQQLMKTKKS DLGMQSATVG IDVKDWPIQI RDKRKRDLVL NVWDFAGREE
1410 1420 1430 1440 1450
FYSTHPHFMT QRALYLAVYD LSKGQAEVDA MKPWLFNIKA RASSSPVILV
1460 1470 1480 1490 1500
GTHLDVSDEK QRKACMSKIT KELLNKRGFP AIRDYHFVNA TEESDALAKL
1510 1520 1530 1540 1550
RKTIINESLN FKIRDQLVVG QLIPDCYVEL EKIILSERKN VPIEFPVIDR
1560 1570 1580 1590 1600
KRLLQLVREN QLQLDENELP HAVHFLNESG VLLHFQDPAL QLSDLYFVEP
1610 1620 1630 1640 1650
KWLCKIMAQI LTVKVEGCPK HPKGIISRRD VEKFLSKKRK FPKNYMSQYF
1660 1670 1680 1690 1700
KLLEKFQIAL PIGEEYLLVP SSLSDHRPVI ELPHCENSEI IIRLYEMPYF
1710 1720 1730 1740 1750
PMGFWSRLIN RLLEISPYML SGRERALRPN RMYWRQGIYL NWSPEAYCLV
1760 1770 1780 1790 1800
GSEVLDNHPE SFLKITVPSC RKGCILLGQV VDHIDSLMEE WFPGLLEIDI
1810 1820 1830 1840 1850
CGEGETLLKK WALYSFNDGE EHQKILLDDL MKKAEEGDLL VNPDQPRLTI
1860 1870 1880 1890 1900
PISQIAPDLI LADLPRNIML NNDELEFEQA PEFLLGDGSF GSVYRAAYEG
1910 1920 1930 1940 1950
EEVAVKIFNK HTSLRLLRQE LVVLCHLHHP SLISLLAAGI RPRMLVMELA
1960 1970 1980 1990 2000
SKGSLDRLLQ QDKASLTRTL QHRIALHVAD GLRYLHSAMI IYRDLKPHNV
2010 2020 2030 2040 2050
LLFTLYPNAA IIAKIADYGI AQYCCRMGIK TSEGTPGFRA PEVARGNVIY
2060 2070 2080 2090 2100
NQQADVYSFG LLLYDILTTG GRIVEGLKFP NEFDELEIQG KLPDPVKEYG
2110 2120 2130 2140 2150
CAPWPMVEKL IKQCLKENPQ ERPTSAQVFD ILNSAELVCL TRRILLPKNV
2160 2170 2180 2190 2200
IVECMVATHH NSRNASIWLG CGHTDRGQLS FLDLNTEGYT SEEVADSRIL
2210 2220 2230 2240 2250
CLALVHLPVE KESWIVSGTQ SGTLLVINTE DGKKRHTLEK MTDSVTCLYC
2260 2270 2280 2290 2300
NSFSKQSKQK NFLLVGTADG KLAIFEDKTV KLKGAAPLKI LNIGNVSTPL
2310 2320 2330 2340 2350
MCLSESTNST ERNVMWGGCG TKIFSFSNDF TIQKLIETRT SQLFSYAAFS
2360 2370 2380 2390 2400
DSNIITVVVD TALYIAKQNS PVVEVWDKKT EKLCGLIDCV HFLREVMVKE
2410 2420 2430 2440 2450
NKESKHKMSY SGRVKTLCLQ KNTALWIGTG GGHILLLDLS TRRLIRVIYN
2460 2470 2480 2490 2500
FCNSVRVMMT AQLGSLKNVM LVLGYNRKNT EGTQKQKEIQ SCLTVWDINL
2510 2520
PHEVQNLEKH IEVRKELAEK MRRTSVE
Length:2,527
Mass (Da):286,103
Last modified:April 20, 2010 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i26142A0CECBBC3F4
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PC85E9PC85_HUMAN
Leucine-rich repeat serine/threonin...
LRRK2
1,271Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A1B0GUQ3A0A1B0GUQ3_HUMAN
Leucine-rich repeat serine/threonin...
LRRK2
454Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3B6H7C3B6_HUMAN
Leucine-rich repeat serine/threonin...
LRRK2
207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JBF0C9JBF0_HUMAN
Leucine-rich repeat serine/threonin...
LRRK2
521Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y4F8A0A2R8Y4F8_HUMAN
Leucine-rich repeat serine/threonin...
LRRK2
78Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti212L → S in AAV63975 (PubMed:15541309).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02493150R → H. Corresponds to variant dbSNP:rs2256408Ensembl.1
Natural variantiVAR_024932119L → P2 PublicationsCorresponds to variant dbSNP:rs33995463EnsemblClinVar.1
Natural variantiVAR_054740228C → S1 PublicationCorresponds to variant dbSNP:rs56108242EnsemblClinVar.1
Natural variantiVAR_033903419A → V1 PublicationCorresponds to variant dbSNP:rs34594498EnsemblClinVar.1
Natural variantiVAR_024933551N → K4 PublicationsCorresponds to variant dbSNP:rs7308720EnsemblClinVar.1
Natural variantiVAR_054741712M → V in PARK8. 1 PublicationCorresponds to variant dbSNP:rs199566791EnsemblClinVar.1
Natural variantiVAR_054742716A → V1 PublicationCorresponds to variant dbSNP:rs281865043EnsemblClinVar.1
Natural variantiVAR_024934723I → V3 PublicationsCorresponds to variant dbSNP:rs10878307EnsemblClinVar.1
Natural variantiVAR_033904755P → L. Corresponds to variant dbSNP:rs34410987EnsemblClinVar.1
Natural variantiVAR_024935793R → M in PARK8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs35173587EnsemblClinVar.1
Natural variantiVAR_054743871K → E1 PublicationCorresponds to variant dbSNP:rs281865044EnsemblClinVar.1
Natural variantiVAR_024936930Q → R in PARK8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs281865045EnsemblClinVar.1
Natural variantiVAR_024937944D → Y. Corresponds to variant dbSNP:rs17519916EnsemblClinVar.1
Natural variantiVAR_0249381067R → Q in PARK8. 1 PublicationCorresponds to variant dbSNP:rs111341148EnsemblClinVar.1
Natural variantiVAR_0249391096S → C in PARK8; unknown pathological significance. Corresponds to variant dbSNP:rs76535406EnsemblClinVar.1
Natural variantiVAR_0249401122I → V in PARK8. 2 PublicationsCorresponds to variant dbSNP:rs34805604EnsemblClinVar.1
Natural variantiVAR_0249411228S → T in PARK8. 1 PublicationCorresponds to variant dbSNP:rs60185966EnsemblClinVar.1
Natural variantiVAR_0249421262P → A1 PublicationCorresponds to variant dbSNP:rs4640000EnsemblClinVar.1
Natural variantiVAR_0647281359K → I Found in a renal cell carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0249431371I → V in PARK8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs17466213EnsemblClinVar.1
Natural variantiVAR_0470221375D → E. Corresponds to variant dbSNP:rs28365226EnsemblClinVar.1
Natural variantiVAR_0249441398R → H4 PublicationsCorresponds to variant dbSNP:rs7133914EnsemblClinVar.1
Natural variantiVAR_0249451441R → C in PARK8; shows an increase in activity in both autophosphorylation and phosphorylation of a generic substrate; loss of interaction with SEC16A. 7 PublicationsCorresponds to variant dbSNP:rs33939927EnsemblClinVar.1
Natural variantiVAR_0249461441R → G in PARK8; shows a progressive reduction in neurite length and branching. 5 PublicationsCorresponds to variant dbSNP:rs33939927EnsemblClinVar.1
Natural variantiVAR_0249471441R → H in PARK8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs34995376EnsemblClinVar.1
Natural variantiVAR_0249481514R → Q in PARK8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs35507033EnsemblClinVar.1
Natural variantiVAR_0249491542P → S in PARK8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs33958906EnsemblClinVar.1
Natural variantiVAR_0406781550R → Q in an ovarian mucinous carcinoma sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs200212150Ensembl.1
Natural variantiVAR_0249501598V → E in PARK8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs721710EnsemblClinVar.1
Natural variantiVAR_0249511628R → P May be associated with Parkinson disease in some populations. 3 PublicationsCorresponds to variant dbSNP:rs33949390EnsemblClinVar.1
Natural variantiVAR_0249521646M → T2 PublicationsCorresponds to variant dbSNP:rs35303786EnsemblClinVar.1
Natural variantiVAR_0249531647S → T2 PublicationsCorresponds to variant dbSNP:rs11564148EnsemblClinVar.1
Natural variantiVAR_0249541699Y → C in PARK8; shows no progressive reduction in neurite length and branching; no loss of interaction with SEC16A. 6 PublicationsCorresponds to variant dbSNP:rs35801418EnsemblClinVar.1
Natural variantiVAR_0406791723R → P in an ovarian serous carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0547441728R → H in PARK8. 1 PublicationCorresponds to variant dbSNP:rs145364431EnsemblClinVar.1
Natural variantiVAR_0547451728R → L in PARK8. 1 PublicationCorresponds to variant dbSNP:rs145364431EnsemblClinVar.1
Natural variantiVAR_0249551869M → T in PARK8; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs35602796EnsemblClinVar.1
Natural variantiVAR_0547461870L → F1 PublicationCorresponds to variant dbSNP:rs281865053EnsemblClinVar.1
Natural variantiVAR_0711011906K → M Does not inhibit interaction with RAB29; shows a progressive increase in neurite length and branching. 2 Publications1
Natural variantiVAR_0249561941R → H in PARK8. 1 PublicationCorresponds to variant dbSNP:rs77428810EnsemblClinVar.1
Natural variantiVAR_0249572012I → T in PARK8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs34015634EnsemblClinVar.1
Natural variantiVAR_0249582019G → S in PARK8; shows an increase in activity in both autophosphorylation and phosphorylation of a generic substrate; results in increased PRDX3 phosphorylation promoting dysregulation of mitochondrial function and oxidative damage; does not inhibit interaction with RAB29; shows a progressive reduction in neurite length and branching; shows distinctive spheroid-like inclusions within both neuronal processes and at intracellular membranous structures; shows lysosomal swelling and reduced retrograde transport of selective cargo between lysosomes and the Golgi apparatus; shows apoptotic mechanism of cell death; no loss of interaction with SEC16A. 29 Publications