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UniProtKB - Q5S007 (LRRK2_HUMAN)

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<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

More...Reactomei		R-HSA-8857538 PTK6 promotes HIF1A stabilization

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

More...SignaLinki		Q5S007

SIGNOR Signaling Network Open Resource

More...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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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

More...EuPathDBi		HostDB:ENSG00000188906.13

Human Gene Nomenclature Database

More...HGNCi		HGNC:18618 LRRK2

Online Mendelian Inheritance in Man (OMIM)

More...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

More...DisGeNETi		120892

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

More...GeneReviewsi		LRRK2

MalaCards human disease database

More...MalaCardsi		LRRK2
MIMi168600 phenotype
607060 phenotype

Open Targets

More...OpenTargetsi		ENSG00000188906

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

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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134968052

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL1075104

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2059

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		LRRK2

Domain mapping of disease mutations (DMDM)

More...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

More...EPDi		Q5S007

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q5S007

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

More...PaxDbi		Q5S007

PeptideAtlas

More...PeptideAtlasi		Q5S007

PRoteomics IDEntifications database

More...PRIDEi		Q5S007

ProteomicsDB human proteome resource

More...ProteomicsDBi		63755

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5S007

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

More...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

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

CleanEx database of gene expression profiles

More...CleanExi		HS_LRRK2

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5S007 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5S007 HS

Organism-specific databases

Human Protein Atlas

More...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

View the complete GO annotation on QuickGO ...

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

More...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

Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family.Curated

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