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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LRRK1
leucine rich repeat kinase 1
Chromosome 15 Β· 15q26.3
NCBI Gene: 79705Ensembl: ENSG00000154237.13HGNC: HGNC:18608UniProt: Q38SD2
50PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of canonical Wnt signaling pathwayidentical protein bindingcytosolprotein bindingosteosclerotic metaphyseal dysplasiaDupuytren Contractureneurodegenerative diseaseHernia
✦AI Summary

LRRK1 (leucine-rich repeat kinase 1) is a serine/threonine protein kinase that regulates intracellular trafficking through phosphorylation of RAB proteins 1. Unlike its paralog LRRK2, LRRK1 specifically phosphorylates RAB7A at Ser72, with this activity being dependent on protein kinase C (PKC) activation 2. The kinase exhibits a unique autoinhibition mechanism that differs from LRRK2, being sterically autoinhibited in a dimer-dependent manner with an additional level of autoinhibition absent in LRRK2 3. LRRK1 interacts with epidermal growth factor receptor (EGFR) and translocates to endosomes upon EGF stimulation, distinguishing it from LRRK2's 14-3-3 protein interactions 4. The kinase plays a role in negative regulation of bone mass through osteoclast maturation [UniProt]. Disease-wise, LRRK1 is associated with osteosclerotic metaphyseal dysplasia and dysosteosclerosis, with mutations typically being autosomal recessive loss-of-function variants, contrasting with LRRK2's autosomal dominant gain-of-function mutations in Parkinson's disease 35. PPM1H phosphatase counteracts LRRK1 activity by dephosphorylating phospho-RAB7A 2. These distinct substrate specificities and regulatory mechanisms suggest LRRK1 and LRRK2 evolved specialized functions despite their structural similarity.

Sources cited
1
LRRK1 is a serine/threonine kinase that phosphorylates RAB proteins involved in intracellular trafficking
PMID: 36040231
2
LRRK1 specifically phosphorylates RAB7A at Ser72 in a PKC-dependent manner, distinct from LRRK2 substrates
PMID: 33459343
3
LRRK1 has unique dimer-dependent autoinhibition mechanisms distinct from LRRK2 and disease associations differ between the paralogs
PMID: 37857821
4
LRRK1 interacts with EGFR and translocates to endosomes, while LRRK2 interacts with 14-3-3 proteins
PMID: 24947832
5
LRRK1 mutations are associated with dysosteosclerosis and osteosclerotic metaphyseal dysplasia
PMID: 36402365
Disease Associationsβ“˜21
osteosclerotic metaphyseal dysplasiaOpen Targets
0.71Strong
Dupuytren ContractureOpen Targets
0.42Moderate
neurodegenerative diseaseOpen Targets
0.36Weak
HerniaOpen Targets
0.33Weak
fibroblastic disorderOpen Targets
0.33Weak
lumbar disc herniationOpen Targets
0.33Weak
Palmar FibromatosisOpen Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.33Weak
Umbilical herniaOpen Targets
0.33Weak
ventral herniaOpen Targets
0.33Weak
Inguinal herniaOpen Targets
0.32Weak
anti-NMDA receptor encephalitisOpen Targets
0.31Weak
androgenetic alopeciaOpen Targets
0.29Weak
placenta praeviaOpen Targets
0.25Weak
obesityOpen Targets
0.23Weak
neuroinflammatory disorderOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Intermediate osteopetrosisOpen Targets
0.08Suggestive
hip dysplasia, Beukes typeOpen Targets
0.08Suggestive
Absent tibia - polydactylyOpen Targets
0.08Suggestive
Osteosclerotic metaphyseal dysplasiaUniProt
Pathogenic Variants24
NM_024652.6(LRRK1):c.5971dup (p.Ala1991fs)Pathogenic
Osteosclerotic metaphyseal dysplasia
β˜…β˜…β˜†β˜†β†’ Residue 1991
NM_024652.6(LRRK1):c.1532+1G>ALikely pathogenic
Ovarian serous cystadenocarcinoma|not provided
β˜…β˜†β˜†β˜†2025
NM_024652.6(LRRK1):c.3618_3631dup (p.Leu1211fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1211
NM_024652.6(LRRK1):c.98-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_024652.6(LRRK1):c.5870+1G>APathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_024652.6(LRRK1):c.4765C>T (p.Gln1589Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1589
NM_024652.6(LRRK1):c.2371del (p.Thr791fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 791
NM_024652.6(LRRK1):c.4365C>A (p.Tyr1455Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1455
NM_024652.6(LRRK1):c.261+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_024652.6(LRRK1):c.2404_2405+1delLikely pathogenic
Osteosclerotic metaphyseal dysplasia
β˜…β˜†β˜†β˜†2024
NM_024652.6(LRRK1):c.73G>T (p.Glu25Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 25
NM_024652.6(LRRK1):c.4290C>A (p.Tyr1430Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1430
NM_024652.6(LRRK1):c.3178dup (p.Val1060fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1060
NM_024652.6(LRRK1):c.801G>A (p.Trp267Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 267
NM_024652.6(LRRK1):c.3435del (p.Ala1147fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1147
NM_024652.6(LRRK1):c.4962_4963del (p.Phe1655fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 1655
NM_024652.6(LRRK1):c.2233-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_024652.6(LRRK1):c.3515G>A (p.Trp1172Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1172
NM_024652.6(LRRK1):c.3439+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_024652.6(LRRK1):c.4480C>T (p.Arg1494Ter)Pathogenic
Osteosclerotic metaphyseal dysplasia
β˜…β˜†β˜†β˜†2022β†’ Residue 1494
View on ClinVar β†—
Related Genes
GRB2Protein interaction100%SHC1Protein interaction99%HSPA8Protein interaction94%BAG5Protein interaction70%TMEM198Shared pathway50%LYPD6Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
81%
Ovary
63%
Lung
51%
Heart
25%
Liver
17%
Gene Interaction Network
Click a node to explore
LRRK1GRB2SHC1HSPA8BAG5TMEM198LYPD6
PROTEIN STRUCTURE
Preparing viewer…
PDB8E04 Β· 3.80 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.63LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.54 [0.46–0.63]
RankingsWhere LRRK1 stands among ~20K protein-coding genes
  • #8,837of 20,598
    Most Researched50
  • #2,023of 5,498
    Most Pathogenic Variants24
  • #4,466of 17,882
    Most Constrained (LOEUF)0.63 Β· top quartile
Genes detectedLRRK1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Leucine-Rich Repeat Kinases.
PMID: 38621236
Annu Rev Biochem Β· 2024
1.00
2
Structure of LRRK1 and mechanisms of autoinhibition and activation.
PMID: 37857821
Nat Struct Mol Biol Β· 2023
0.90
3
Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway.
PMID: 17324517
Neurosci Lett Β· 2007
0.80
4
Type II kinase inhibitors that target Parkinson's disease-associated LRRK2.
PMID: 40465731
Sci Adv Β· 2025
0.70
5
Structure and regulation of full-length human leucine-rich repeat kinase 1.
PMID: 37558661
Nat Commun Β· 2023
0.60