LRRK2: Difference between revisions
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{{protein |
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| update_citations = yes |
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|AltSymbols=PARK8 |
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|EntrezGene=120892 |
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|RefSeq=XM_058513 |
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|UniProt=Q5S007 |
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|Chromosome=12 |
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|Arm=q |
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|Band=12 |
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|LocusSupplementaryData= |
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'''LRRK2''' is a protein associated with [[Parkinson's disease]] type 8. |
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{{GNF_Protein_box |
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| image_source = |
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| AltSymbols =; AURA17; PARK8; RIPK7; ROCO2 |
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| Homologene = 18982 |
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| MGIid = 1913975 |
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| GeneAtlas_image1 = PBB_GE_LRRK2_gnf1h07577_s_at_tn.png |
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| GeneAtlas_image2 = PBB_GE_LRRK2_gnf1h07580_s_at_tn.png |
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| 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}} |
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| Component = {{GNF_GO|id=GO:0005622 |text = intracellular}} |
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| Process = {{GNF_GO|id=GO:0006468 |text = protein amino acid phosphorylation}} {{GNF_GO|id=GO:0007264 |text = small GTPase mediated signal transduction}} |
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| Orthologs = {{GNF_Ortholog_box |
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| Hs_EntrezGene = 120892 |
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| Hs_Ensembl = ENSG00000188906 |
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| Hs_RefseqProtein = NP_940980 |
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| Hs_RefseqmRNA = NM_198578 |
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| Hs_GenLoc_db = |
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| Hs_GenLoc_chr = 12 |
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| Hs_GenLoc_start = 38905080 |
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| Hs_GenLoc_end = 39047834 |
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| Hs_Uniprot = Q5S007 |
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| Mm_EntrezGene = 66725 |
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| Mm_Ensembl = ENSMUSG00000036273 |
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| Mm_RefseqmRNA = NM_025730 |
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| Mm_RefseqProtein = NP_080006 |
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| Mm_GenLoc_db = |
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| Mm_GenLoc_chr = 15 |
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| Mm_GenLoc_start = 91501048 |
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| Mm_GenLoc_end = 91643793 |
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| Mm_Uniprot = Q5S006 |
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}} |
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}} |
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'''LRRK2''' is a protein member of the leucine-rich repeat kinase family. |
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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> |
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==References== |
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{{reflist}} |
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==Further reading== |
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{{refbegin | 2}} |
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{{PBB_Further_reading |
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| citations = |
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*{{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 }} |
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*{{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 }} |
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*{{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= }} |
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*{{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= }} |
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*{{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 }} |
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*{{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= }} |
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*{{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= }} |
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*{{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= }} |
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}} |
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{{refend}} |
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==External links== |
==External links== |
Revision as of 13:35, 8 November 2007
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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000188906 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000036273 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: LRRK2 leucine-rich repeat kinase 2".
Further reading
External links
- LRRK2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)