LRRK1

Chr 15q26.3

leucine rich repeat kinase 1

Aliases:: FLJ23119, KIAA1790, ROCO1, RIPK6
MANE:: ENST00000388948.8

OMIM: 610986 ↗NCBI: 79705 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

LRRK1 · Q38SD2

v62025-08-01

Predicted Aligned Error matrix for LRRK1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.7/ 100

Confident

2,015 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)47%
Low(50–70)10%
Very low(< 50)13%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability

Disease associations (Open Targets)

osteosclerotic metaphyseal dysplasia
0.72
Dupuytren Contracture
0.40
neurodegenerative disease
0.36
palmar fibromatosis
0.32
Hernia
0.32
fibroblastic disorder
0.32
ventral hernia
0.32
lumbar disc herniation
0.32
type 2 diabetes mellitus
0.32
Umbilical hernia
0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Leucine-rich repeat serine/threonine-protein kinase 1

Serine/threonine-protein kinase which phosphorylates RAB proteins involved in intracellular trafficking (PubMed:36040231). Phosphorylates RAB7A; this activity is dependent on protein kinase C (PKC) activation (PubMed:36040231, PubMed:37558661, PubMed:37857821). Plays a role in the negative regulation of bone mass, acting through the maturation of osteoclasts (By similarity)