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] See more...

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 4
  • KIAA1790 2 4
  • RIPK6 2 3
  • Roco1 2 3
  • EC 4
  • FLJ23119 2
  • LRRK1 5

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 Osteosclerotic Metaphyseal Dysplasia and Metaphyseal Dysplasia. Gene Ontology (GO) annotations related to this gene include identical protein binding and protein kinase activity. An important paralog of this gene is SCRIB.

Gene Wiki entry for LRRK1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRK1 Gene

Genomics for LRRK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRRK1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J100917 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +0.1 84 3.8 BCLAF1 CTCF REST CEBPB ZNF592 DEK TRIM22 ZNF341 MAX SIN3A ALDH1A3-AS1 HSALNG0108608 LRRK1 CHSY1
GH15J101053 Promoter 0.3 EPDnew 250.1 +134.3 134252 0.1 LRRK1 ENSG00000259376 piR-44085-007 ENSG00000259755 LOC105371026 CHSY1
GH15J100440 Promoter 0.3 EPDnew 250 -478.5 -478533 0.1 piR-48950-064 LRRK1 piR-31115-003 HSALNG0108579-001 HSALNG0108579-002 CERS3-AS1 ADAMTS17 lnc-CERS3-1 CERS3
GH15J101085 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas 15.9 +170.5 170515 7.4 BCLAF1 MYC IKZF1 ZNF592 KLF9 CEBPA ZIC2 MXD4 CTCF REST LINS1 ENSG00000259755 ASB7 LRRK1 WASH3P ENSG00000259381 CHSY1 SNRPA1 PRKXP1 ENSG00000270127
GH15J101745 Promoter/Enhancer 1.1 Ensembl dbSUPER 19.7 +827.1 827083 2.6 ZNF580 ZNF639 SMARCA5 BHLHE40 SUPT5H SMARCA4 ZNF189 EP400 ZBTB33 IKZF1 LOC100128108 HSALNG0108667 HSALNG0108668 MN298114-074 lnc-TARSL2-4 piR-51918-002 piR-40825-003 SNRPA1 WASH3P LRRK1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRK1

Top Transcription factor binding sites by QIAGEN in the LRRK1 gene promoter:
  • aMEF-2
  • AML1a
  • HOXA5
  • ITF-2
  • LCR-F1
  • MEF-2A
  • p300
  • Pax-3
  • Tal-1beta
  • TGIF

Genomic Locations for LRRK1 Gene

Latest Assembly
159,241 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
158,901 bases
Plus strand

(GRCh37/hg19 by Ensembl)
150,898 bases
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:
    Recommended name:
    Leucine-rich repeat serine/threonine-protein kinase 1
    Protein Accession:
    Secondary Accessions:
    • Q6NVH5
    • Q6NYC0
    • Q6ZNL9
    • Q6ZNM9
    • Q96JN5
    • Q9H5S3

    Protein attributes for LRRK1 Gene

    2015 amino acids
    Molecular mass:
    225393 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homodimer.
    • 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC85472.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for LRRK1 Gene


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

GenScript: Design optimal peptide antigens:
  • LRRK1 protein (A6H8V9_HUMAN)
  • Leucine-rich repeat serine/threonine-protein kinase 1 (LRRK1_HUMAN)
  • LRRK1 protein (Q9BS11_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily.
  • 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:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=; Evidence={ECO:0000269|PubMed:16243488};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=; Evidence={ECO:0000269|PubMed:16243488};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Binding of GTP stimulates kinase activity.

Enzyme Numbers (IUBMB) for LRRK1 Gene

Phenotypes From GWAS Catalog for LRRK1 Gene

Gene Ontology (GO) - Molecular Function for LRRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0004722 protein serine/threonine phosphatase activity IBA 21873635
GO:0005515 protein binding IPI 19712061
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:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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


Subcellular locations from

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
endosome 2
lysosome 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LRRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol IDA --
GO:0043231 intracellular membrane-bounded organelle IBA 21873635
genes like me logo Genes that share ontologies with LRRK1: view

Pathways & Interactions for LRRK1 Gene

PathCards logo

SuperPathways for LRRK1 Gene

No Data Available

SIGNOR curated interactions for LRRK1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LRRK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006470 protein dephosphorylation IEA --
GO:0007165 signal transduction IBA 21873635
GO:0016310 phosphorylation IEA --
GO:0036035 osteoclast development IEA --
genes like me logo Genes that share ontologies with LRRK1: view

No data available for Pathways by source 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
Magnesium Approved, Experimental, Investigational Pharma 0
Manganese Approved Nutra 65
Guanosine triphosphate Experimental Pharma 0
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
genes like me logo Genes that share compounds with LRRK1: view

Transcripts for LRRK1 Gene

mRNA/cDNA for LRRK1 Gene

20 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for LRRK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for LRRK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRK1

SOURCE GeneReport for Unigene cluster for LRRK1 Gene:


Evidence on tissue expression from TISSUES for LRRK1 Gene

  • Nervous system(2.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with LRRK1: view

Primer products for research

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 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
(Pan troglodytes)
Mammalia LRRK1 29 30
  • 97.82 (n)
(Canis familiaris)
Mammalia LRRK1 29 30
  • 88.46 (n)
(Bos Taurus)
Mammalia LRRK1 29 30
  • 87.06 (n)
(Mus musculus)
Mammalia Lrrk1 29 16 30
  • 85.37 (n)
(Rattus norvegicus)
Mammalia Lrrk1 29
  • 84.95 (n)
(Monodelphis domestica)
Mammalia LRRK1 30
  • 82 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 81 (a)
-- 30
  • 80 (a)
-- 30
  • 21 (a)
(Gallus gallus)
Aves LRRK1 29 30
  • 75.03 (n)
(Anolis carolinensis)
Reptilia LRRK1 30
  • 76 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lrrk1 29
  • 67.14 (n)
Str.13362 29
(Danio rerio)
Actinopterygii lrrk1 29
  • 63.15 (n)
LRRK1 (1 of 2) 30
  • 60 (a)
LRRK1 (2 of 2) 30
  • 47 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta Lrrk 30
  • 14 (a)
(Caenorhabditis elegans)
Secernentea lrk-1 30
  • 17 (a)
Species where no ortholog for LRRK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

Gene Tree for LRRK1 (if available)
Gene Tree for LRRK1 (if available)
Evolutionary constrained regions (ECRs) for LRRK1: view image
Alliance of Genome Resources:
Additional Orthologs for LRRK1

Paralogs for LRRK1 Gene

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

  • A6H8V9_HUMAN
  • E9PK39_HUMAN
  • J3KN98_HUMAN
  • Q9BS11_HUMAN
genes like me logo Genes that share paralogs with LRRK1: view

Variants for LRRK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRK1 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs113678526 Benign: not provided 101,012,107(+) G/A
NM_024652.6(LRRK1):c.1381G>A (p.Ala461Thr)
rs113989128 Likely Benign: not provided 100,989,306(+) A/G
NM_024652.6(LRRK1):c.670A>G (p.Ile224Val)
rs116807808 Benign: not provided 101,051,712(+) C/A
NM_024652.6(LRRK1):c.3441C>A (p.Ala1147=)
rs141102052 Benign: not provided 101,024,824(+) G/A
NM_024652.6(LRRK1):c.2089G>A (p.Val697Ile)
rs149998498 Benign: not provided 101,027,339(+) C/T
NM_024652.6(LRRK1):c.2484C>T (p.Asp828=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRRK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for LRRK1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

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

Disorders for LRRK1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for LRRK1 Gene - From: CVR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search LRRK1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LRRK1

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 MJ (Neuroscience letters 2007) 3 22 40
  2. LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain. (PMID: 16243488) Korr D … Weiss B (Cellular signalling 2006) 3 4 22
  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 research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4
  4. Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia. (PMID: 27829680) Guo L … Ikegawa S (Journal of human genetics 2017) 3 72
  5. Biochemical characterization of highly purified leucine-rich repeat kinases 1 and 2 demonstrates formation of homodimers. (PMID: 22952686) Civiero L … Taymans JM (PloS one 2012) 3 4

Products for LRRK1 Gene

Sources for LRRK1 Gene