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Lrrk1 leucine-rich repeat kinase 1 [ Mus musculus (house mouse) ]

Gene ID: 233328, updated on 30-Apr-2024

Summary

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Official Symbol
Lrrk1provided by MGI
Official Full Name
leucine-rich repeat kinase 1provided by MGI
Primary source
MGI:MGI:2142227
See related
Ensembl:ENSMUSG00000015133 AllianceGenome:MGI:2142227
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mKIAA1790; C230002E15Rik; D130026O16Rik
Summary
Predicted to enable identical protein binding activity and protein kinase activity. Acts upstream of or within several processes, including bone resorption; osteoclast development; and regulation of peptidyl-tyrosine phosphorylation. Predicted to be located in cytosol and mitochondrion. Predicted to be active in cytoplasm. Is expressed in several structures, including alimentary system; brain; genitourinary system; immune system; and liver and biliary system. Used to study osteopetrosis. Orthologous to human LRRK1 (leucine rich repeat kinase 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung adult (RPKM 12.7), ovary adult (RPKM 8.3) and 23 other tissues See more
Orthologs
human all
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Genomic context

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Location:
7 C; 7 35.57 cM
Exon count:
37
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (65908493..66038089, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (66258745..66388341, complement)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene chondroitin sulfate synthase 1 Neighboring gene predicted gene, 23042 Neighboring gene NSA2 ribosome biogenesis homolog pseudogene Neighboring gene STARR-positive B cell enhancer mm9_chr7:73339453-73339754 Neighboring gene STARR-positive B cell enhancer ABC_E4932 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:73378275-73378458 Neighboring gene predicted gene, 33442 Neighboring gene predicted gene, 45989 Neighboring gene STARR-seq mESC enhancer starr_19084 Neighboring gene STARR-positive B cell enhancer ABC_E3724 Neighboring gene STARR-positive B cell enhancer ABC_E10441 Neighboring gene microRNA 7057 Neighboring gene aldehyde dehydrogenase family 1, subfamily A3 Neighboring gene predicted gene, 33515

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Leucine-Rich Repeat Kinase 1 Regulates Autophagy through Turning On TBC1D2-Dependent Rab7 Inactivation. Toyofuku T, et al. Mol Cell Biol, 2015 Sep 1. PMID 26100023, Free PMC Article
  2. Age-Dependent Dopaminergic Neurodegeneration and Impairment of the Autophagy-Lysosomal Pathway in LRRK-Deficient Mice. Giaime E, et al. Neuron, 2017 Nov 15. PMID 29056298, Free PMC Article
  3. LRRK1 regulation of actin assembly in osteoclasts involves serine 5 phosphorylation of L-plastin. Si M, et al. J Cell Biochem, 2018 Dec. PMID 30136304, Free PMC Article
  4. LRRK1 is critical in the regulation of B-cell responses and CARMA1-dependent NF-κB activation. Morimoto K, et al. Sci Rep, 2016 May 11. PMID 27166870, Free PMC Article
  5. FIH-1 disrupts an LRRK1/EGFR complex to positively regulate keratinocyte migration. Peng H, et al. Am J Pathol, 2014 Dec. PMID 25455687, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.
    Title: Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.
  2. Our data suggest that targeted disruption of L-plastin increases trabecular bone volume, and phosphorylation of Ser5 in L-plastin in the Lrrk1 signaling pathway may in part contribute to actin assembly in mature osteoclasts.
    Title: LRRK1 regulation of actin assembly in osteoclasts involves serine 5 phosphorylation of L-plastin.
  3. LRRK1 physically interacted and potently synergized with CARMA1 to enhance NF-kappaB activation.
    Title: LRRK1 is critical in the regulation of B-cell responses and CARMA1-dependent NF-κB activation.
  4. findings revealed an essential role of LRRK in the survival of DA neurons and in the regulation of the autophagy-lysosomal pathway in the aging brain.
    Title: Age-Dependent Dopaminergic Neurodegeneration and Impairment of the Autophagy-Lysosomal Pathway in LRRK-Deficient Mice.
  5. Lrrk1 deficiency in osteoclasts resulted in reduced phosphorylation and activation of RAC1/Cdc42
    Title: Leucine-rich repeat kinase-1 regulates osteoclast function by modulating RAC1/Cdc42 Small GTPase phosphorylation and activation.
  6. the spatiotemporal regulation of Rab7 activity during tunicamycin-induced autophagy is regulated by LRRK1.
    Title: Leucine-Rich Repeat Kinase 1 Regulates Autophagy through Turning On TBC1D2-Dependent Rab7 Inactivation.
  7. FIH-1 has a role in disrupting the LRRK1/EGFR complex to positively regulate keratinocyte migration
    Title: FIH-1 disrupts an LRRK1/EGFR complex to positively regulate keratinocyte migration.
  8. Skeletal phenotypes in Lrrk1 and Lrrk2 knockout (KO) mice, were investigated.
    Title: Targeted disruption of leucine-rich repeat kinase 1 but not leucine-rich repeat kinase 2 in mice causes severe osteopetrosis.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC28646

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding ISO
Inferred from Sequence Orthology
more info
  
enables kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within bone resorption IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of intracellular signal transduction IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within negative regulation of peptidyl-tyrosine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within osteoclast development IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within osteoclast development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of peptidyl-tyrosine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of canonical Wnt signaling pathway ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within positive regulation of intracellular signal transduction IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within positive regulation of peptidyl-tyrosine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in mitochondrion ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
leucine-rich repeat serine/threonine-protein kinase 1
NP_666303.3
XP_006540901.1
XP_006540902.1
XP_006540903.1
XP_006540904.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_146191.3 → NP_666303.3  leucine-rich repeat serine/threonine-protein kinase 1

    See identical proteins and their annotated locations for NP_666303.3

    Status: VALIDATED

    Source sequence(s)
    AK040153, AK076432, BC066159, BC072664, BY024941
    Consensus CDS
    CCDS21344.1
    UniProtKB/Swiss-Prot
    Q3U476, Q3UHC2, Q66JQ4, Q6GQR9, Q6NZF5, Q6ZPI4, Q8BKP3, Q8BU93, Q8BUY0, Q8BVV2, Q8R085
    Related
    ENSMUSP00000015277.8, ENSMUST00000015277.14
    Conserved Domains (11) summary
    smart00220
    Location:1247 → 1511
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:635 → 781
    Gem1; GTPase SAR1 family domain [General function prediction only]
    COG4886
    Location:279 → 513
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:273 → 488
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    cd00204
    Location:91 → 214
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd14067
    Location:1248 → 1523
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:281 → 303
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12796
    Location:91 → 180
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:844 → 1036
    COR; C-terminal of Roc, COR, domain
    sd00045
    Location:148 → 186
    ANK; ANK repeat [structural motif]
    cl21455
    Location:639 → 821
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    65908493..66038089 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006540841.2 → XP_006540904.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X4

    Conserved Domains (3) summary
    cd14067
    Location:543 → 818
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    pfam16095
    Location:139 → 331
    COR; C-terminal of Roc, COR, domain
    cl38936
    Location:6 → 116
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  2. XM_006540838.4 → XP_006540901.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X1

    Conserved Domains (7) summary
    COG4886
    Location:280 → 514
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd14067
    Location:1249 → 1524
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:282 → 304
    LRR_RI; leucine-rich repeat [structural motif]
    sd00045
    Location:149 → 187
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:127 → 219
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:845 → 1037
    COR; C-terminal of Roc, COR, domain
    cl38936
    Location:640 → 822
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  3. XM_006540839.5 → XP_006540902.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X2

    Conserved Domains (7) summary
    COG4886
    Location:262 → 496
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd14067
    Location:1231 → 1506
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:264 → 286
    LRR_RI; leucine-rich repeat [structural motif]
    sd00045
    Location:131 → 169
    ANK; ANK repeat [structural motif]
    pfam12796
    Location:109 → 201
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:827 → 1019
    COR; C-terminal of Roc, COR, domain
    cl38936
    Location:622 → 804
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

  4. XM_006540840.5 → XP_006540903.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X3

    Conserved Domains (5) summary
    COG4886
    Location:5 → 75
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd14067
    Location:710 → 985
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00031
    Location:12 → 34
    LRR_1; leucine-rich repeat [structural motif]
    pfam16095
    Location:306 → 498
    COR; C-terminal of Roc, COR, domain
    cl38936
    Location:101 → 283
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_391340.5 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q3UHC2.1 GenPept UniProtKB/Swiss-Prot:Q3UHC2

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