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    LRRK1 leucine rich repeat kinase 1 [ Homo sapiens (human) ]

    Gene ID: 79705, updated on 10-Dec-2024

    Summary

    Official Symbol
    LRRK1provided by HGNC
    Official Full Name
    leucine rich repeat kinase 1provided by HGNC
    Primary source
    HGNC:HGNC:18608
    See related
    Ensembl:ENSG00000154237 MIM:610986; AllianceGenome:HGNC:18608
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OSMD; RIPK6; Roco1
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.0), spleen (RPKM 4.4) and 24 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LRRK1 in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (100919357..101078257)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (98673894..98832884)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101459562..101618462)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene collagen alpha-1(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101420568-101421082 Neighboring gene ALDH1A3 antisense RNA 1 Neighboring gene aldehyde dehydrogenase 1 family member A3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101458234-101458826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6881 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101460013-101460604 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10176 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101464364-101464864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101464865-101465365 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:101466469-101466662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101469523-101470476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10180 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6882 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10181 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101535857-101536844 Neighboring gene Sharpr-MPRA regulatory region 1628 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10182 Neighboring gene Sharpr-MPRA regulatory region 13394 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:101567313-101568512 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101568957-101569509 Neighboring gene uncharacterized LOC105371026 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101586279-101586964 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:101587260-101587760 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr15:101587761-101588261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101588398-101588922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101588923-101589446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101593635-101594255 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101602418-101603083 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101603084-101603748 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101607739-101608404 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101609069-101609734 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101609735-101610398 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:101610353-101610519 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:101616303-101616866 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101616867-101617428 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101617993-101618554 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101618555-101619118 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101619119-101619680 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101619681-101620242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101641875-101642662 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101642663-101643449 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:101652194-101652980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101658577-101659078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10185 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:101671452-101671651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10186 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10188 Neighboring gene uncharacterized LOC124903565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101707586-101708111 Neighboring gene uncharacterized LOC124903564 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10189 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:101709499-101710003

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (13 hits/1290 screens)

    Associated conditions

    Description Tests
    Osteosclerotic metaphyseal dysplasia
    MedGen: C3554665 OMIM: 615198 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
    EBI GWAS Catalog

    Interactions

    General gene information

    Clone Names

    • FLJ23119, FLJ27465, KIAA1790

    Gene Ontology Provided by GOA

    Items 1 - 25 of 27
    Function Evidence Code Pubs
    enables 3-phosphoinositide-dependent protein kinase activity  
    enables AMP-activated protein kinase activity  
    enables ATP binding  
    enables DNA-dependent protein kinase activity  
    enables GTP binding  
    enables Rho-dependent protein serine/threonine kinase activity  
    enables eukaryotic translation initiation factor 2alpha kinase activity  
    enables histone H2AS1 kinase activity  
    enables histone H2AS121 kinase activity  
    enables histone H2AT120 kinase activity  
    enables histone H2AXS139 kinase activity  
    enables histone H2BS14 kinase activity  
    enables histone H2BS36 kinase activity  
    enables histone H3S10 kinase activity  
    enables histone H3S28 kinase activity  
    enables histone H3S57 kinase activity  
    enables histone H3T11 kinase activity  
    enables histone H3T3 kinase activity  
    enables histone H3T45 kinase activity  
    enables histone H3T6 kinase activity  
    enables histone H4S1 kinase activity  
    enables identical protein binding PubMed 
    enables metal ion binding  
    enables protein binding PubMed 
    enables protein serine kinase activity  
    enables protein serine/threonine kinase activity  
    enables ribosomal protein S6 kinase activity  
    Items 1 - 25 of 27
    Component Evidence Code Pubs
    located_in cytosol  
    located_in mitochondrion  
    located_in plasma membrane  

    General protein information

    Preferred Names
    leucine-rich repeat serine/threonine-protein kinase 1
    NP_078928.3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_052791.1 RefSeqGene

      Range
      5199..158874
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_024652.6 → NP_078928.3  leucine-rich repeat serine/threonine-protein kinase 1

      See identical proteins and their annotated locations for NP_078928.3

      Status: REVIEWED

      Source sequence(s)
      AC019254, AC090907, AK058028, AK131075, AW592808, BC171802, BQ187037, DQ013130
      Consensus CDS
      CCDS42086.1
      UniProtKB/Swiss-Prot
      Q38SD2, Q6NVH5, Q6NYC0, Q6ZNL9, Q6ZNM9, Q96JN5, Q9H5S3
      Related
      ENSP00000373600.3, ENST00000388948.8
      Conserved Domains (11) summary
      smart00220
      Location:1245 → 1511
      S_TKc; Serine/Threonine protein kinases, catalytic domain
      COG1100
      Location:635 → 781
      Gem1; GTPase SAR1 family domain [General function prediction only]
      COG4886
      Location:302 → 614
      LRR; Leucine-rich repeat (LRR) protein [Transcription]
      cd00116
      Location:214 → 488
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      cd00204
      Location:95 → 214
      ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
      cd14067
      Location:1248 → 1523
      STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
      sd00033
      Location:304 → 330
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12796
      Location:126 → 221
      Ank_2; Ankyrin repeats (3 copies)
      pfam16095
      Location:844 → 1036
      COR; C-terminal of Roc, COR, domain
      sd00045
      Location:156 → 186
      ANK; ANK repeat [structural motif]
      cl21455
      Location:639 → 821
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      100919357..101078257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      98673894..98832884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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