LRRK2: Difference between revisions

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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{protein
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|Name=leucine-rich repeat kinase 2
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|HGNCid=18618
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|Symbol=LRRK2
|AltSymbols=PARK8
|EntrezGene=120892
|OMIM=609007
|RefSeq=XM_058513
|UniProt=Q5S007
|PDB=
|ECnumber=
|Chromosome=12
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'''LRRK2''' is a protein associated with [[Parkinson's disease]] type 8.
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Leucine-rich repeat kinase 2
| HGNCid = 18618
| Symbol = LRRK2
| AltSymbols =; AURA17; PARK8; RIPK7; ROCO2
| OMIM = 609007
| ECnumber =
| Homologene = 18982
| MGIid = 1913975
| GeneAtlas_image1 = PBB_GE_LRRK2_gnf1h07577_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_LRRK2_gnf1h07580_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0004674 |text = protein serine/threonine kinase activity}} {{GNF_GO|id=GO:0005096 |text = GTPase activator activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0005525 |text = GTP binding}} {{GNF_GO|id=GO:0016740 |text = transferase activity}}
| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}}
| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007264 |text = small GTPase mediated signal transduction}}
| Orthologs = {{GNF_Ortholog_box
| Hs_EntrezGene = 120892
| Hs_Ensembl = ENSG00000188906
| Hs_RefseqProtein = NP_940980
| Hs_RefseqmRNA = NM_198578
| Hs_GenLoc_db =
| Hs_GenLoc_chr = 12
| Hs_GenLoc_start = 38905080
| Hs_GenLoc_end = 39047834
| Hs_Uniprot = Q5S007
| Mm_EntrezGene = 66725
| Mm_Ensembl = ENSMUSG00000036273
| Mm_RefseqmRNA = NM_025730
| Mm_RefseqProtein = NP_080006
| Mm_GenLoc_db =
| Mm_GenLoc_chr = 15
| Mm_GenLoc_start = 91501048
| Mm_GenLoc_end = 91643793
| Mm_Uniprot = Q5S006
}}
}}

'''LRRK2''' is a protein member of the leucine-rich repeat kinase family.

The LRRK2 gene encodes a protein with an [[ankyrin repeat]] region, a [[leucine-rich repeat]] (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the [[Outer mitochondrial membrane|mitochondrial outer membrane]]. Mutations in this gene have been associated with [[Parkinson's disease]] type 8.<ref>{{cite web | title = Entrez Gene: LRRK2 leucine-rich repeat kinase 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=120892| accessdate = }}</ref>

==References==
{{reflist}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal | author=Singleton AB |title=Altered alpha-synuclein homeostasis causing Parkinson's disease: the potential roles of dardarin. |journal=Trends Neurosci. |volume=28 |issue= 8 |pages= 416-21 |year= 2005 |pmid= 15955578 |doi= 10.1016/j.tins.2005.05.009 }}
*{{cite journal | author=Mata IF, Wedemeyer WJ, Farrer MJ, ''et al.'' |title=LRRK2 in Parkinson's disease: protein domains and functional insights. |journal=Trends Neurosci. |volume=29 |issue= 5 |pages= 286-93 |year= 2006 |pmid= 16616379 |doi= 10.1016/j.tins.2006.03.006 }}
*{{cite journal | author=Haugarvoll K, Wszolek ZK |title=PARK8 LRRK2 parkinsonism. |journal=Current neurology and neuroscience reports |volume=6 |issue= 4 |pages= 287-94 |year= 2006 |pmid= 16822348 |doi= }}
*{{cite journal | author=Bonifati V |title=The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2. |journal=Current neurology and neuroscience reports |volume=6 |issue= 5 |pages= 355-7 |year= 2006 |pmid= 16928343 |doi= }}
*{{cite journal | author=Schapira AH |title=The importance of LRRK2 mutations in Parkinson disease. |journal=Arch. Neurol. |volume=63 |issue= 9 |pages= 1225-8 |year= 2006 |pmid= 16966498 |doi= 10.1001/archneur.63.9.1225 }}
*{{cite journal | author=Whaley NR, Uitti RJ, Dickson DW, ''et al.'' |title=Clinical and pathologic features of families with LRRK2-associated Parkinson's disease. |journal=J. Neural Transm. Suppl. |volume= |issue= 70 |pages= 221-9 |year= 2006 |pmid= 17017533 |doi= }}
*{{cite journal | author=Gasser T |title=Molecular genetic findings in LRRK2 American, Canadian and German families. |journal=J. Neural Transm. Suppl. |volume= |issue= 70 |pages= 231-4 |year= 2006 |pmid= 17017534 |doi= }}
*{{cite journal | author=Tan EK |title=Identification of a common genetic risk variant (LRRK2 Gly2385Arg) in Parkinson's disease. |journal=Ann. Acad. Med. Singap. |volume=35 |issue= 11 |pages= 840-2 |year= 2007 |pmid= 17160203 |doi= }}
}}
{{refend}}


==External links==
==External links==

Revision as of 13:35, 8 November 2007

Template:PBB Controls

LRRK2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesLRRK2, AURA17, DARDARIN, PARK8, RIPK7, ROCO2, leucine-rich repeat kinase 2, leucine rich repeat kinase 2
External IDsOMIM: 609007 MGI: 1913975 HomoloGene: 18982 GeneCards: LRRK2
EC number2.7.11.1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_198578

NM_025730

RefSeq (protein)

NP_940980

NP_080006

Location (UCSC)Chr 12: 40.2 – 40.37 MbChr 15: 91.56 – 91.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

LRRK2 is a protein member of the leucine-rich repeat kinase family.

The LRRK2 gene encodes a protein with an ankyrin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson's disease type 8.[5]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188906Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036273Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: LRRK2 leucine-rich repeat kinase 2".

Further reading

External links