Description: Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA. RefSeq Summary (NM_024652): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Transcript (Including UTRs) Position: hg19 chr15:101,459,460-101,610,317 Size: 150,858 Total Exon Count: 34 Strand: + Coding Region Position: hg19 chr15:101,464,838-101,609,053 Size: 144,216 Coding Exon Count: 33
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): LRRK1 CDC HuGE Published Literature: LRRK1 Positive Disease Associations: Neuropsychological Tests Related Studies:
Neuropsychological Tests Sudha Seshadri et al. BMC medical genetics 2007, Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study., BMC medical genetics.
[PubMed 17903297]
Our results suggest that genes associated with clinical neurological disease also have detectable effects on subclinical phenotypes. These hypothesis generating data illustrate the use of an unbiased approach to discover novel pathways that may be involved in brain aging, and could be used to replicate observations made in other studies.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q38SD2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006468 protein phosphorylation GO:0016310 phosphorylation GO:0035556 intracellular signal transduction GO:0036035 osteoclast development GO:0045453 bone resorption GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation GO:0050732 negative regulation of peptidyl-tyrosine phosphorylation GO:0090263 positive regulation of canonical Wnt signaling pathway GO:1902533 positive regulation of intracellular signal transduction