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Aliases for LRRK1 Gene

Aliases for LRRK1 Gene

  • Leucine Rich Repeat Kinase 1 2 3 5
  • Leucine-Rich Repeat Serine/Threonine-Protein Kinase 1 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

Entrez Gene Summary for LRRK1 Gene

  • This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]

GeneCards Summary for LRRK1 Gene

LRRK1 (Leucine Rich Repeat Kinase 1) is a Protein Coding gene. Diseases associated with LRRK1 include Snca-Related Parkinson Disease 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 CIViC 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

Enhancers for LRRK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G101085 1.7 FANTOM5 Ensembl ENCODE 15.9 +170.3 170318 7.4 HDGF FOXA2 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF143 ENSG00000259755 LRRK1 CHSY1 GC15M101045
GH15G100939 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.7 +21.8 21848 2.3 HDGF PKNOX1 ZSCAN4 WRNIP1 BACH1 YBX1 BMI1 EBF1 POLR2A FOS LRRK1 CHSY1 LOC101927751 PIR34573
GH15G100957 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.6 +39.8 39753 2.3 PKNOX1 ARNT SIN3A RAD21 YY1 FOS CREM EGR2 SMARCA5 CEBPB LRRK1 ALDH1A3 LOC101927751 PIR34573
GH15G101067 1.5 Ensembl ENCODE dbSUPER 14.6 +150.8 150804 5.0 FOXA2 ATF1 MLX ARID4B DMAP1 ZNF48 ETS1 TCF12 GATA2 FOS LRRK1 PIR53038 ENSG00000259376
GH15G101006 1.6 Ensembl ENCODE dbSUPER 13.1 +88.8 88787 2.4 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 ZNF766 ZNF143 ZNF207 LRRK1 CHSY1 ALDH1A3 PIR34573 LOC101927751
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LRRK1 on UCSC Golden Path with GeneCards custom track

Promoters for LRRK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000081960 -115 2201 TBP PKNOX1 RB1 SIN3A ZNF2 RAD21 RFX5 ZNF143 FOS DEK

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

Genes around LRRK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for LRRK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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 :
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily.
Family:
  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily.
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 IEA --
GO:0004674 protein serine/threonine kinase activity IBA,IEA --
GO:0004871 signal transducer activity IBA --
GO:0005515 protein binding IPI 19712061
GO:0005524 ATP 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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LRRK1

No data available for Human Phenotype Ontology , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRK1 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for LRRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IEA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol 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 IBA,IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0016310 phosphorylation IEA --
GO:0035556 intracellular signal transduction IBA --
GO:0036035 osteoclast development 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
Manganese Approved Nutra 34
Guanosine triphosphate Experimental Pharma 0
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
Full agonist, Agonist 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for LRRK1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of LRRK1 Gene:

LRRK1

SOURCE GeneReport for Unigene cluster for LRRK1 Gene:

Hs.407918
genes like me logo Genes that share expression patterns with LRRK1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia LRRK1 35 34
  • 97.82 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LRRK1 35 34
  • 88.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LRRK1 35 34
  • 87.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lrrk1 16 35 34
  • 85.37 (n)
rat
(Rattus norvegicus)
Mammalia Lrrk1 34
  • 84.95 (n)
oppossum
(Monodelphis domestica)
Mammalia LRRK1 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 81 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
-- 35
  • 21 (a)
OneToMany
chicken
(Gallus gallus)
Aves LRRK1 34 35
  • 75.03 (n)
lizard
(Anolis carolinensis)
Reptilia LRRK1 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lrrk1 34
  • 67.14 (n)
Str.13362 34
zebrafish
(Danio rerio)
Actinopterygii lrrk1 34
  • 63.15 (n)
LRRK1 (1 of 2) 35
  • 60 (a)
OneToMany
LRRK1 (2 of 2) 35
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Lrrk 35
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lrk-1 35
  • 17 (a)
OneToMany
Species where no ortholog for LRRK1 was found in the sources mined by GeneCards:
  • 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
rs886038213 Uncertain significance 101,068,739(+) CACAG(-/AGTGGTG)CCTGG intron-variant, reference, frameshift-variant
rs1000014572 -- 100,945,870(+) GGCAC(A/G)GTATC intron-variant
rs1000056483 -- 100,995,322(+) ATCCA(C/T)CTCTG intron-variant
rs1000063091 -- 100,954,414(+) ATCAG(A/T)TATAT intron-variant
rs1000073821 -- 100,994,299(+) GAATG(A/T)TTCTC intron-variant, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv761e212 CNV loss 25503493
dgv762e212 CNV loss 25503493
esv1015225 CNV insertion 17803354
esv1932382 CNV deletion 18987734
esv2668881 CNV deletion 23128226
esv2750170 CNV deletion 23290073
esv2750171 CNV deletion 23290073
esv2750172 CNV deletion 23290073
esv2760062 CNV gain 17122850
esv2761889 CNV loss 21179565
esv33120 CNV loss 17666407
esv33725 CNV gain 17666407
esv34275 CNV gain 17911159
esv3443757 CNV insertion 20981092
esv3552947 CNV deletion 23714750
esv3581864 CNV loss 25503493
esv3581866 CNV loss 25503493
esv3637491 CNV gain 21293372
esv3637492 CNV gain 21293372
esv3637494 CNV loss 21293372
esv3637495 CNV loss 21293372
nsv1041172 CNV gain 25217958
nsv1133220 CNV tandem duplication 24896259
nsv457288 CNV loss 19166990
nsv469824 CNV loss 16826518
nsv516426 CNV loss 19592680
nsv570827 CNV loss 21841781
nsv833109 CNV gain 17160897
nsv94609 CNV deletion 16902084
nsv95032 CNV insertion 16902084

Variation tolerance for LRRK1 Gene

Residual Variation Intolerance Score: 21.8% 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

Human Gene Mutation Database (HGMD)
LRRK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: Novoseek and GeneCards

Disorder Aliases PubMed IDs
snca-related parkinson disease
  • lewy body parkinsonism
parkinson disease, late-onset
  • parkinson disease
- elite association - COSMIC cancer census association via MalaCards
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. Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway. (PMID: 17324517) Haugarvoll K. … Farrer M.J. (Neurosci. Lett. 2007) 3 22 46 64
  2. LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain. (PMID: 16243488) Korr D. … Weiss B. (Cell. Signal. 2006) 3 4 22 64
  3. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T. … Ohara O. (DNA Res. 2001) 2 3 4 64
  4. Biochemical characterization of highly purified leucine-rich repeat kinases 1 and 2 demonstrates formation of homodimers. (PMID: 22952686) Civiero L. … Taymans J.M. (PLoS ONE 2012) 3 4 64
  5. Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease. (PMID: 20144646) Dachsel J.C. … Farrer M.J. (Mech. Ageing Dev. 2010) 3 22 64

Products for LRRK1 Gene

  • Addgene plasmids for LRRK1

Sources for LRRK1 Gene

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