LRRK1 (leucine rich repeat kinase 1)

2014-11-01  

Identity

HGNC
LRRK1
LOCATION
15q26.3
LOCUSID
79705
ALIAS
RIPK6,Roco1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 79705
MIM: 610986
HGNC: 18608
Ensembl: ENSG00000154237

Variants:

dbSNP: 79705
ClinVar: 79705
TCGA: ENSG00000154237
COSMIC: LRRK1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154237ENST00000388948Q38SD2
ENSG00000154237ENST00000525284E9PMK9
ENSG00000154237ENST00000526457H0YEW1
ENSG00000154237ENST00000531270E9PK39
ENSG00000154237ENST00000532029Q38SD2
ENSG00000154237ENST00000534045E9PLF8

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
180454792007Dynamic and redundant regulation of LRRK2 and LRRK1 expression.61
162434882006LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain.49
162434882006LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain.49
173945482007Mutations in LRRK2/dardarin associated with Parkinson disease are more toxic than equivalent mutations in the homologous kinase LRRK1.46
182722922008Developmental regulation of leucine-rich repeat kinase 1 and 2 expression in the brain and other rodent and human organs: Implications for Parkinson's disease.46
229526862012Biochemical characterization of highly purified leucine-rich repeat kinases 1 and 2 demonstrates formation of homodimers.44
249478322014Differential protein-protein interactions of LRRK1 and LRRK2 indicate roles in distinct cellular signaling pathways.22
261924372015PLK1-dependent activation of LRRK1 regulates spindle orientation by phosphorylating CDK5RAP2.18
172251812007Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease.17
173245172007Variants in the LRRK1 gene and susceptibility to Parkinson's disease in Norway.14

Citation

Dessen P

LRRK1 (leucine rich repeat kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68666/lrrk1-(leucine-rich-repeat-kinase-1)