LRRK1 (leucine rich repeat kinase 1)

2014-11-01  

Identity

HGNC
LOCATION
15q26.3
LOCUSID
ALIAS
RIPK6,Roco1
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
375586612023Structure and regulation of full-length human leucine-rich repeat kinase 1.0
375586612023Structure and regulation of full-length human leucine-rich repeat kinase 1.0
347983232022Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.4
360402312022PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the CORB GTPase domain.4
347983232022Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.4
360402312022PKC isoforms activate LRRK1 kinase by phosphorylating conserved residues (Ser1064, Ser1074 and Thr1075) within the CORB GTPase domain.4
334593432021Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.22
334593432021Deciphering the LRRK code: LRRK1 and LRRK2 phosphorylate distinct Rab proteins and are regulated by diverse mechanisms.22
298129622018Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients.6
298129622018Genetic Analysis of LRRK1 and LRRK2 Variants in Essential Tremor Patients.6
278296802017Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.16
278296802017Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia.16
270554752016Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.24
270554752016Identification of biallelic LRRK1 mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneity.24
254133452015LRRK1-phosphorylated CLIP-170 regulates EGFR trafficking by recruiting p150Glued to microtubule plus ends.17

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)