LRRK1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | LRRK1 |
| Official Name | leucine rich repeat kinase 1 [Source:HGNC Symbol;Acc:HGNC:18608] |
| Ensembl ID | ENSG00000154237 |
| Bio databases IDs | |
| Aliases | leucine rich repeat kinase 1 |
| Synonyms | AW319595, C230002E15RIK, D130026O16RIK, leucine-rich repeat kinase 1, Lrrk1 predicted, mKIAA1790, OSMD, RIPK6, Roco1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LRRK1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Roc domain
- Protein kinase (unclassified specificity)
- protein phosphatase 1 regulatory subunit 42
- Protein tyrosine and serine/threonine kinase
- Ankyrin repeats (3 copies)
- Leucine rich repeat
- protein binding
- C-terminal of Roc, COR, domain
- protein-tyrosine kinase
- Protein kinase domain
- identical protein binding
- kinase
- Serine/Threonine protein kinases, catalytic domain
- kinase domain
- Protein Kinases, catalytic domain
- Ras of Complex, Roc, domain of DAPkinase
- COR domain
- Tyrosine kinase, catalytic domain
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- celiac disease
- osteosclerotic metaphyseal dysplasia
- Crohn disease
- osteopetrosis
- systemic lupus erythematosus
- anti-N-methyl-D-aspartate receptor encephalitis
- osteosclerosis
- Dupuytren contracture
- male pattern hair loss
role in cell
- function
- number
- signal transduction in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LRRK1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- osteoclast development
- bone resorption
- positive regulation of canonical Wnt receptor signaling pathway
- protein phosphorylation
- intracellular signal transduction
- positive regulation of peptidyl-tyrosine phosphorylation
- negative regulation of peptidyl-tyrosine phosphorylation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- GTP binding
- ATP binding
- identical protein binding
- protein binding
- metal ion binding
- protein serine/threonine kinase activity