Human Gene LRRK1 (uc002bwr.3)
  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 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:101,459,460-101,610,317)mRNA (may differ from genome)Protein (2015 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: LRRK1_HUMAN
DESCRIPTION: RecName: Full=Leucine-rich repeat serine/threonine-protein kinase 1; EC=2.7.11.1;
CATALYTIC ACTIVITY: ATP + a protein = ADP + a phosphoprotein.
COFACTOR: Magnesium or manganese.
ENZYME REGULATION: Binding of GTP stimulates kinase activity.
SUBCELLULAR LOCATION: Cytoplasm.
PTM: Autophosphorylated.
SIMILARITY: Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. ROCO subfamily.
SIMILARITY: Contains 4 ANK repeats.
SIMILARITY: Contains 13 LRR (leucine-rich) repeats.
SIMILARITY: Contains 1 protein kinase domain.
SIMILARITY: Contains 1 Roc domain.
SEQUENCE CAUTION: Sequence=AAY67799.1; Type=Miscellaneous discrepancy; Note=The cDNA contains a duplication of exon 3; Sequence=BAB15547.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAC85472.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  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:
  1. 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.

-  MalaCards Disease Associations
  MalaCards Gene Search: LRRK1
Diseases sorted by gene-association score: snca-related parkinson disease (12), parkinson disease, late-onset (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.64 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 145.15 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -155.62319-0.488 Picture PostScript Text
3' UTR -452.201264-0.358 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR011009 - Kinase-like_dom
IPR001611 - Leu-rich_rpt
IPR003591 - Leu-rich_rpt_typical-subtyp
IPR013684 - MIRO-like
IPR000719 - Prot_kinase_cat_dom
IPR020859 - ROC_GTPase
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF00025 - ADP-ribosylation factor family
PF00069 - Protein kinase domain
PF00071 - Ras family
PF07714 - Protein tyrosine kinase
PF08477 - Ras of Complex, Roc, domain of DAPkinase
PF13516 - Leucine Rich repeat
PF16095 - C-terminal of Roc, COR, domain

SCOP Domains:
52047 - RNI-like
52058 - L domain-like
52075 - Outer arm dynein light chain 1
52540 - P-loop containing nucleoside triphosphate hydrolases
56112 - Protein kinase-like (PK-like)
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q38SD2
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserNo orthologGenome BrowserNo ortholog
Gene Details   Gene Details 
Gene Sorter   Gene Sorter 
  Ensembl WormBase 
  Protein Sequence Protein Sequence 
  Alignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0004672 protein kinase activity
GO:0004674 protein serine/threonine kinase activity
GO:0004871 signal transducer activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0042802 identical protein binding
GO:0046872 metal ion binding

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

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  BC144705 - Homo sapiens cDNA clone IMAGE:9053242.
BC171802 - Homo sapiens cDNA clone IMAGE:9054456.
BC172446 - Synthetic construct Homo sapiens clone IMAGE:100069140, MGC:199151 leucine-rich repeat kinase 1 (LRRK1) mRNA, encodes complete protein.
DQ013130 - Homo sapiens leucine-rich repeat kinase 1 (LRRK1) mRNA, complete cds.
AB058693 - Homo sapiens mRNA for KIAA1790 protein, partial cds.
BC146769 - Homo sapiens leucine-rich repeat kinase 1, mRNA (cDNA clone IMAGE:9007214), partial cds.
AK131075 - Homo sapiens mRNA for FLJ00262 protein.
BC068080 - Homo sapiens leucine-rich repeat kinase 1, mRNA (cDNA clone IMAGE:6209274), complete cds.
CU686613 - Synthetic construct Homo sapiens gateway clone IMAGE:100023096 5' read LRRK1 mRNA.
AK130975 - Homo sapiens cDNA FLJ27465 fis, clone MPC08423.
DQ573462 - Homo sapiens piRNA piR-41574, complete sequence.
AK058028 - Homo sapiens cDNA FLJ25299 fis, clone STM07710.
BC005408 - Homo sapiens leucine-rich repeat kinase 1, mRNA (cDNA clone IMAGE:3463078), partial cds.
BC020379 - Homo sapiens leucine-rich repeat kinase 1, mRNA (cDNA clone IMAGE:3463102).
AK054662 - Homo sapiens cDNA FLJ30100 fis, clone BNGH41000104, highly similar to Leucine-rich repeat serine/threonine-protein kinase 1 (EC 2.7.11.1).
BC066655 - Homo sapiens leucine-rich repeat kinase 1, mRNA (cDNA clone IMAGE:6165604), partial cds.
AK094556 - Homo sapiens cDNA FLJ37237 fis, clone BRAMY2002638, highly similar to Leucine-rich repeat serine/threonine-protein kinase 1 (EC 2.7.11.1).
BC110293 - Homo sapiens leucine-rich repeat kinase 1, mRNA (cDNA clone IMAGE:5193448).
AK225575 - Homo sapiens mRNA for leucine-rich repeat kinase 1 variant, clone: LNG07978.
AK026772 - Homo sapiens cDNA: FLJ23119 fis, clone LNG07978.
BC018934 - Homo sapiens leucine-rich repeat kinase 1, mRNA (cDNA clone IMAGE:4120491), with apparent retained intron.
JD466091 - Sequence 447115 from Patent EP1572962.
JD192113 - Sequence 173137 from Patent EP1572962.
JD479639 - Sequence 460663 from Patent EP1572962.
JD524046 - Sequence 505070 from Patent EP1572962.
JD120803 - Sequence 101827 from Patent EP1572962.
JD122516 - Sequence 103540 from Patent EP1572962.
JD084859 - Sequence 65883 from Patent EP1572962.
JD341188 - Sequence 322212 from Patent EP1572962.
JD309741 - Sequence 290765 from Patent EP1572962.
JD172153 - Sequence 153177 from Patent EP1572962.
JD210853 - Sequence 191877 from Patent EP1572962.
JD357820 - Sequence 338844 from Patent EP1572962.
JD209430 - Sequence 190454 from Patent EP1572962.
JD084534 - Sequence 65558 from Patent EP1572962.
JD045915 - Sequence 26939 from Patent EP1572962.
JD552757 - Sequence 533781 from Patent EP1572962.
JD157926 - Sequence 138950 from Patent EP1572962.
JD176745 - Sequence 157769 from Patent EP1572962.
JD107214 - Sequence 88238 from Patent EP1572962.
JD524621 - Sequence 505645 from Patent EP1572962.
JD482508 - Sequence 463532 from Patent EP1572962.
JD323990 - Sequence 305014 from Patent EP1572962.
JD089034 - Sequence 70058 from Patent EP1572962.
JD052675 - Sequence 33699 from Patent EP1572962.
JD377924 - Sequence 358948 from Patent EP1572962.
JD091412 - Sequence 72436 from Patent EP1572962.
JD504587 - Sequence 485611 from Patent EP1572962.
JD050667 - Sequence 31691 from Patent EP1572962.
JD097171 - Sequence 78195 from Patent EP1572962.
JD052165 - Sequence 33189 from Patent EP1572962.
JD499110 - Sequence 480134 from Patent EP1572962.
JD303793 - Sequence 284817 from Patent EP1572962.
JD552397 - Sequence 533421 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA1790, LRRK1_HUMAN, NM_024652, NP_078928, Q38SD2, Q6NVH5, Q6NYC0, Q6ZNL9, Q6ZNM9, Q96JN5, Q9H5S3
UCSC ID: uc002bwr.3
RefSeq Accession: NM_024652
Protein: Q38SD2 (aka LRRK1_HUMAN)
CCDS: CCDS42086.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_024652.3
exon count: 34CDS single in 3' UTR: no RNA size: 7647
ORF size: 6048CDS single in intron: no Alignment % ID: 99.99
txCdsPredict score: 12200.00frame shift in genome: no % Coverage: 99.79
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.