LRRK1 - leucine rich repeat kinase 1 Gene

Also Known as OSMD; RIPK6; Roco1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79705

About LRRK1

Cytogenetic location: 15q26.3 Genomic coordinates (GRCh38): 15:100,919,357-101,078,257 (from NCBI)

This gene has 11 transcripts (splice variants), 179 orthologues, 31 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 6.0), spleen (RPKM 4.4) and 24 other tissues.

Summary

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]

LRRK1 Products (1)

mRNA	Protein	Name
NM_024652.6	NP_078928.3	leucine-rich repeat serine/threonine-protein kinase 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	19712061	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19712061	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in positive regulation of canonical Wnt signaling pathway	IGI IGI: Inferred from genetic interaction	22899650	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LRRK1 Protein Structure

Ank_2

LRR_1

LRR_4

LRR_8

Roc

Pkinase

0
400
800
1200
1600
2015 a.a.

Protein Preferred Names	Protein Names
leucine-rich repeat serine/threonine-protein kinase 1

LRRK1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	LRRK1	Q38SD2	SHC1	Homo sapiens	P29353	Anti Tag CoIP	24947832
Intra	LRRK1	Q38SD2	LRRK1	Homo sapiens	Q38SD2	GMS	19712061
Intra	LRRK1	Q38SD2	LRRK1	Homo sapiens	Q38SD2	Anti Tag CoIP	19712061
Intra	LRRK1	Q38SD2	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	19712061
Intra	LRRK1	Q38SD2	LRRK2	Homo sapiens	Q5S007	Anti Tag CoIP	20144646
Intra	LRRK1	Q38SD2	HSP90AB1	Homo sapiens	P08238	Anti Tag CoIP	24947832
Intra	LRRK1	Q38SD2	ABL1	Homo sapiens	P00519	Pull Down	20697350
Intra	LRRK1	Q38SD2	BAG5	Homo sapiens	Q9UL15	Anti Tag CoIP	24510904
Intra	LRRK1	Q38SD2	LRRK1	Homo sapiens	Q38SD2	EM	22952686
Intra	LRRK1	Q38SD2	BAG5	Homo sapiens	Q9UL15	Anti Tag CoIP	24947832
Intra	LRRK1	Q38SD2	GRB2	Homo sapiens	P62993	Anti Tag CoIP	24947832
Intra	LRRK1	Q38SD2	HSP90AB1	Homo sapiens	P08238	Pull Down	32707033
Intra	LRRK1	Q38SD2	HSPA8	Homo sapiens	P11142	Anti Tag CoIP	24510904
Intra	LRRK1	Q38SD2	HSPA8	Homo sapiens	P11142	Anti Tag CoIP	24947832
Intra	LRRK1	Q38SD2	DAPK1	Homo sapiens	P53355	Anti Tag CoIP	19712061

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Osteosclerotic Metaphyseal Dysplasia	OSMD
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Osteopetrosis	Marble Bone Disease Albers-Schonberg Disease Osteopetroses Marble Bones Osteopetrosis And Related Disorders Congenital Osteopetrosis Marble Bone Albers-Schoenberg Disease Albers-Schonberg Osteopetrosis Osteosclerosis Fragilis Ivory Bones
Parkinson Disease 3, Autosomal Dominant	PARK3 Parkinson Disease 3 Parkinson Disease 3, Autosomal Dominant Lewy Body Parkinson'S Disease 3 Autosomal Dominant Lewy Body Parkinson Disease 3 Autosomal Dominant Parkinson Disease 3 Parkinson Disease Type 3 Autosomal Dominant Parkinson Disease Parkinson Disease, Autosomal Dominant Parkinson Disease, Familial, Type 1
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Cardiac Valvular Dysplasia, X-Linked	Xmvd X-Linked Cardiac Valvular Dysplasia CVD1 Filamin A-Related X-Linked Myxomatous Valvular Dysplasia Flna-Related Valvular Dystrophy Flna-Related X-Linked Myxomatous Valvular Dysplasia Valvular Heart Disease, Congenital Myxomatous Valvular Dystrophy, X-Linked Congenital Valvular Heart Disease X-Linked Myxomatous Valvular Dystrophy CVDPX Ehlers-Danlos Syndrome, Type V, Formerly Eds5, Formerly Dystrophie Valvulaire Associee A Flna Eds 5 Ehlers-Danlos Syndrome, Type 5 Dystrophie Valvulaire Associée À Flna Filamin-A-Associated Myxomatous Mitral Valve Disease Filamin-A-Related Myxomatous Mitral Valve Dystrophy Congenital Valvular Dysplasia Cvdx Ehlers-Danlos Syndrome Type 5
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Osteopetrosis, Autosomal Recessive 2	OPTB2 Autosomal Recessive Osteopetrosis 2 Osteopetrosis, Mild Autosomal Recessive Form Osteoclast-Poor Osteopetrosis Osteopetrosis, Osteoclast-Poor Mild Autosomal Recessive Form Osteopetrosis Osteopetrosis Autosomal Recessive 2 Autosomal Recessive Osteopetrosis Type 2 Osteopetrosis Osteoclast-Poor Osteopetrosis, Autosomal Recessive, Type 2
Keratoconus	Kc Conical Cornea Noninflammatory Corneal Thining Bulging Cornea Cornea Conical Acquired Conus Of Cornea
Osteopetrosis, Autosomal Recessive 3	Osteopetrosis With Renal Tubular Acidosis Marble Brain Disease OPTB3 Guibaud-Vainsel Syndrome Carbonic Anhydrase Ii Deficiency Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis Autosomal Recessive Osteopetrosis 3 Carbonic Anhydrase 2 Deficiency Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis Osteopetrosis Autosomal Recessive 3 Autosomal Recessive Osteopetrosis Type 3 Guibaud Vainsel Syndrome Mixed Rta Mixed Renal Tubular Acidosis Renal Tubular Acidosis Type 3 Carbonic Anhydrase Ii Deficiency Syndrome Carbonic Anhydrase Ii Variant Osteopetrosis, Autosomal Recessive, Type 3 Carbonic Anhydrase 2
Caffey Disease	Infantile Cortical Hyperostosis CAFYD Cortical Congenital Hyperostosis Caffey-Silverman Syndrome De Toni-Caffey Disease Hyperostosis Cortical Infantile Hyperostosis, Cortical, Congenital

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-174420	RN277	Inhibitor	/	Unkown
HY-W107722	IN04		98.51%	Unkown
HY-RS07832	LRRK1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20443	Lrrk1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26952	Lrrk1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	LRRK1	RGD	RGD:1308000
Macaca mulatta	LRRK1	VGNC	VGNC:81446
Canis familiaris	LRRK1	VGNC	VGNC:42822
Mus musculus	LRRK1	MGD	MGI:2142227
Bos taurus	LRRK1	VGNC	VGNC:31037
Felis catus	LRRK1	VGNC	VGNC:80924
Others	LRRK1	NCBI