2. Gene
  3. LRRK1 - leucine rich repeat kinase 1 Gene

LRRK1 - leucine rich repeat kinase 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as OSMD; RIPK6; Roco1

Gene ID: 79705 | Gene type: protein coding

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

LRRK1 Protein Structure

Ank_2

Ank_2: Ankyrin repeats (3 copies) (94 - 181)

(303 - 318)

LRR_1

LRR_1: Leucine Rich Repeat (331 - 351)

LRR_4

LRR_4: Leucine Rich repeats (2 copies) (381 - 417)

LRR_8

LRR_8: Leucine rich repeat (451 - 509)

Roc

Roc: Ras of Complex, Roc, domain of DAPkinase (640 - 760)

Pkinase

Pkinase: Protein kinase domain (1246 - 1517)

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  • 2015 a.a.
Protein Preferred Names Protein Names

leucine-rich repeat serine/threonine-protein kinase 1

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS07832 LRRK1 Human Pre-designed siRNA Set A Pre-designed Sets / 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