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Aliases for LRRK1 Gene

Aliases for LRRK1 Gene

  • Leucine-Rich Repeat Kinase 1 2 3
  • EC 2.7.11.1 4
  • KIAA1790 4
  • RIPK6 3
  • Roco1 3

External Ids for LRRK1 Gene

Previous GeneCards Identifiers for LRRK1 Gene

  • GC15P099297
  • GC15P099380
  • GC15P101459
  • GC15P077581

Summaries for LRRK1 Gene

GeneCards Summary for LRRK1 Gene

LRRK1 (Leucine-Rich Repeat Kinase 1) is a Protein Coding gene. Diseases associated with LRRK1 include parkinson disease type 3 and parkinson disease, late-onset. GO annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is LRRK2.

Gene Wiki entry for LRRK1 Gene

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LRRK1 Gene

Genomics for LRRK1 Gene

Regulatory Elements for LRRK1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for LRRK1 Gene

Chromosome:
15
Start:
100,919,215 bp from pter
End:
101,078,254 bp from pter
Size:
159,040 bases
Orientation:
Plus strand

Genomic View for LRRK1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for LRRK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRK1 Gene

Proteins for LRRK1 Gene

  • Protein details for LRRK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q38SD2-LRRK1_HUMAN
    Recommended name:
    Leucine-rich repeat serine/threonine-protein kinase 1
    Protein Accession:
    Q38SD2
    Secondary Accessions:
    • Q6NVH5
    • Q6NYC0
    • Q6ZNL9
    • Q6ZNM9
    • Q96JN5
    • Q9H5S3

    Protein attributes for LRRK1 Gene

    Size:
    2015 amino acids
    Molecular mass:
    225393 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAY67799.1; Type=Miscellaneous discrepancy; Note=The cDNA contains a duplication of exon 3.; Evidence={ECO:0000305}; Sequence=BAB15547.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC85472.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for LRRK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LRRK1 Gene

Proteomics data for LRRK1 Gene at MOPED

Post-translational modifications for LRRK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LRRK1 Gene

No data available for DME Specific Peptides for LRRK1 Gene

Domains & Families for LRRK1 Gene

Gene Families for LRRK1 Gene

Suggested Antigen Peptide Sequences for LRRK1 Gene

Graphical View of Domain Structure for InterPro Entry

Q38SD2

UniProtKB/Swiss-Prot:

LRRK1_HUMAN :
  • Contains 1 protein kinase domain.
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily.
  • Contains 4 ANK repeats.
Domain:
  • Contains 1 protein kinase domain.
  • Contains 1 Roc domain.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily.
Similarity:
  • Contains 4 ANK repeats.
  • Contains 13 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with LRRK1: view

Function for LRRK1 Gene

Molecular function for LRRK1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a protein = ADP + a phosphoprotein.
UniProtKB/Swiss-Prot EnzymeRegulation:
Binding of GTP stimulates kinase activity.

Enzyme Numbers (IUBMB) for LRRK1 Gene

Gene Ontology (GO) - Molecular Function for LRRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005515 protein binding IPI 19712061
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with LRRK1: view
genes like me logo Genes that share phenotypes with LRRK1: view

Animal Models for LRRK1 Gene

MGI Knock Outs for LRRK1:

Animal Model Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for LRRK1 Gene

Localization for LRRK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRK1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LRRK1 Gene COMPARTMENTS Subcellular localization image for LRRK1 gene
Compartment Confidence
mitochondrion 4
cytosol 2
endosome 1

Gene Ontology (GO) - Cellular Components for LRRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with LRRK1: view

Pathways & Interactions for LRRK1 Gene

SuperPathways for LRRK1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LRRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0036035 osteoclast development IEA --
GO:0045453 bone resorption IEA --
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with LRRK1: view

No data available for Pathways by source and SIGNOR curated interactions for LRRK1 Gene

Drugs & Compounds for LRRK1 Gene

(4) Drugs for LRRK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Guanosine triphosphate Experimental Pharma 0
Manganese Pharma 30
Magnesium Nutra 0

(1) Additional Compounds for LRRK1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Antagonist, Gating inhibitor 58-64-0
genes like me logo Genes that share compounds with LRRK1: view

Transcripts for LRRK1 Gene

Unigene Clusters for LRRK1 Gene

Leucine-rich repeat kinase 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for LRRK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21 ^ 22
SP1: - - -
SP2: - -
SP3: -
SP4: - -

Relevant External Links for LRRK1 Gene

GeneLoc Exon Structure for
LRRK1
ECgene alternative splicing isoforms for
LRRK1

Expression for LRRK1 Gene

mRNA expression in normal human tissues for LRRK1 Gene

Protein differential expression in normal tissues from HIPED for LRRK1 Gene

This gene is overexpressed in Lymph node (23.9) and Uterus (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LRRK1 Gene



SOURCE GeneReport for Unigene cluster for LRRK1 Gene Hs.407918

genes like me logo Genes that share expression patterns with LRRK1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for LRRK1 Gene

Orthologs for LRRK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LRRK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LRRK1 35
  • 87.06 (n)
  • 89.18 (a)
LRRK1 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LRRK1 35
  • 88.46 (n)
  • 91.41 (a)
LRRK1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrk1 35
  • 85.37 (n)
  • 88.88 (a)
Lrrk1 16
Lrrk1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LRRK1 35
  • 97.82 (n)
  • 97.63 (a)
LRRK1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lrrk1 35
  • 84.95 (n)
  • 87.83 (a)
oppossum
(Monodelphis domestica)
Mammalia LRRK1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 81 (a)
OneToMany
-- 36
  • 21 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves LRRK1 35
  • 75.03 (n)
  • 78.18 (a)
LRRK1 36
  • 78 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LRRK1 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrk1 35
  • 67.14 (n)
  • 68.02 (a)
Str.13362 35
zebrafish
(Danio rerio)
Actinopterygii lrrk1 35
  • 63.15 (n)
  • 60.12 (a)
LRRK1 (1 of 2) 36
  • 60 (a)
OneToMany
LRRK1 (2 of 2) 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Lrrk 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lrk-1 36
  • 17 (a)
OneToMany
Species with no ortholog for LRRK1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LRRK1 Gene

ENSEMBL:
Gene Tree for LRRK1 (if available)
TreeFam:
Gene Tree for LRRK1 (if available)

Paralogs for LRRK1 Gene

Paralogs for LRRK1 Gene

(6) SIMAP similar genes for LRRK1 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with LRRK1: view

Variants for LRRK1 Gene

Sequence variations from dbSNP and Humsavar for LRRK1 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs721906 -- 100,959,076(+) ATGTG(C/T)GGCTG intron-variant
rs735869 -- 100,974,594(+) TAGAG(A/G)GACCG intron-variant
rs735870 -- 100,974,513(+) TATAA(C/T)ATTAT intron-variant
rs735871 -- 100,974,532(+) TTTTC(A/C)AGATG intron-variant
rs735872 -- 100,975,367(-) CACAT(C/G)CCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for LRRK1 Gene

Variant ID Type Subtype PubMed ID
nsv469824 CNV Loss 16826518
nsv457288 CNV Loss 19166990
nsv904593 CNV Loss 21882294
nsv904594 CNV Loss 21882294
nsv833109 CNV Gain 17160897
nsv516426 CNV Loss 19592680
dgv785e1 CNV Complex 17122850
esv1015225 CNV Insertion 17803354
nsv95032 CNV Insertion 16902084
esv34275 CNV Gain 17911159
esv2750170 CNV Deletion 23290073
esv33120 CNV Loss 17666407
esv33725 CNV Gain 17666407
esv2668881 CNV Deletion 23128226
nsv904595 CNV Loss 21882294
esv2750171 CNV Deletion 23290073
esv1932382 CNV Deletion 18987734
esv2750172 CNV Deletion 23290073
nsv94609 CNV Loss 16902084

Variation tolerance for LRRK1 Gene

Residual Variation Intolerance Score: 21.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.04; 96.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LRRK1 Gene

HapMap Linkage Disequilibrium report
LRRK1
Human Gene Mutation Database (HGMD)
LRRK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRK1 Gene

Disorders for LRRK1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for LRRK1 Gene - From: DISEASES and NovoSeek

Disorder Aliases PubMed IDs
parkinson disease type 3
  • autosomal dominant parkinson disease
parkinson disease, late-onset
  • kufor-rakeb syndrome
- elite association
Search LRRK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LRRK1

Genetic Association Database (GAD)
LRRK1
Human Genome Epidemiology (HuGE) Navigator
LRRK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LRRK1
genes like me logo Genes that share disorders with LRRK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRK1 Gene

Publications for LRRK1 Gene

  1. Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease. (PMID: 20144646) Dachsel J.C. … Farrer M.J. (Mech. Ageing Dev. 2010) 23 67
  2. Homo- and heterodimerization of ROCO kinases: LRRK2 kinase inhibition by the LRRK2 ROCO fragment. (PMID: 19712061) Klein C.L. … Kahle P.J. (J. Neurochem. 2009) 23 67
  3. Ancient origin of the Parkinson disease gene LRRK2. (PMID: 18523712) MarA-n I. (J. Mol. Evol. 2008) 23 67
  4. Developmental regulation of leucine-rich repeat kinase 1 and 2 expression in the brain and other rodent and human organs: Implications for Parkinson's disease. (PMID: 18272292) Westerlund M. … Galter D. (Neuroscience 2008) 23 67
  5. Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease. (PMID: 17225181) Taylor J.P. … Farrer M.J. (Neurogenetics 2007) 23 67

Products for LRRK1 Gene

Sources for LRRK1 Gene

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