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

Summary

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; central nervous system; genitourinary system; hemolymphoid system; and sensory organ. Used to study osteopetrosis. Human ortholog(s) of this gene implicated in osteosclerotic metaphyseal dysplasia. Orthologous to human LRRK1 (leucine rich repeat kinase 1). [provided by Alliance of Genome Resources, Nov 2024]
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

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_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.

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Variation

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Alleles

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

Chemically induced (ENU) (2) 1 citation
Endonuclease-mediated (4)
Targeted (6) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AW319595 (e-PCR)
- UniSTS:179587

D7Dcr28 (e-PCR), detects polymorphism
- UniSTS:507785

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 histone H2AS1 kinase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion 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 kinase 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
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
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
involved_in positive regulation of canonical Wnt signaling pathway	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	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: leucine-rich repeat serine/threonine-protein kinase 1

NP_666303.3

EC 2.7.11.1

XP_006540901.1

EC 2.7.11.1

XP_006540902.1

EC 2.7.11.1

XP_006540903.1

EC 2.7.11.1

XP_006540904.1

EC 2.7.11.1

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)

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

NC_000073.7 Reference GRCm39 C57BL/6J

Range

65908493..66038089 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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