Format

Send to:

Choose Destination

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

Gene ID: 79705, updated on 4-May-2020

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
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
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

Genomic context

See LRRK1 in Genome Data Viewer
Location:
15q26.3
Exon count:
37
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (100919017..101078257)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (101459460..101610317)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 9420 Neighboring gene uncharacterized LOC105369201 Neighboring gene uncharacterized LOC101927751 Neighboring gene aldehyde dehydrogenase 1 family member A3 Neighboring gene uncharacterized LOC105371026 Neighboring gene chondroitin sulfate synthase 1 Neighboring gene uncharacterized LOC107984727

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ23119, FLJ27465, KIAA1790

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
GTP binding IEA
Inferred from Electronic Annotation
more info
 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
bone resorption IEA
Inferred from Electronic Annotation
more info
 
negative regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
osteoclast development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of canonical Wnt signaling pathway IGI
Inferred from Genetic Interaction
more info
PubMed 
positive regulation of intracellular signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
leucine-rich repeat serine/threonine-protein kinase 1
NP_078928.3
XP_005255036.1
XP_011520314.1
XP_011520315.1
XP_011520316.1
XP_011520317.1
XP_011520318.1
XP_011520319.1
XP_011520320.1
XP_011520321.1
XP_016878059.1

NCBI Reference Sequences (RefSeq)

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_024652.6NP_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
    Related
    ENSP00000373600.3, ENST00000388948.8
    Conserved Domains (11) summary
    smart00220
    Location:12451511
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:635781
    Gem1; GTPase SAR1 family domain [General function prediction only]
    COG4886
    Location:302614
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:214488
    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:95214
    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:12481523
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:304330
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12796
    Location:126221
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:8441036
    COR; C-terminal of Roc, COR, domain
    sd00045
    Location:156186
    ANK; ANK repeat [structural motif]
    cl21455
    Location:639821
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    100919017..101078257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522014.2XP_011520316.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X2

    Conserved Domains (11) summary
    smart00220
    Location:12451511
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:635781
    Gem1; GTPase SAR1 family domain [General function prediction only]
    COG4886
    Location:302614
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:214488
    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:95214
    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:12481523
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:304330
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12796
    Location:126221
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:8441036
    COR; C-terminal of Roc, COR, domain
    sd00045
    Location:156186
    ANK; ANK repeat [structural motif]
    cl21455
    Location:639821
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. XM_011522019.2XP_011520321.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X7

    Conserved Domains (10) summary
    COG4886
    Location:381616
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:214464
    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:95214
    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 ...
    TIGR00231
    Location:639820
    small_GTP; small GTP-binding protein domain
    sd00033
    Location:304330
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12796
    Location:126221
    Ank_2; Ankyrin repeats (3 copies)
    pfam13855
    Location:329416
    LRR_8; Leucine rich repeat
    pfam16095
    Location:8441036
    COR; C-terminal of Roc, COR, domain
    sd00045
    Location:152186
    ANK; ANK repeat [structural motif]
    cl21455
    Location:639821
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. XM_011522012.2XP_011520314.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X1

    See identical proteins and their annotated locations for XP_011520314.1

    UniProtKB/Swiss-Prot
    Q38SD2
    Conserved Domains (11) summary
    smart00220
    Location:12451511
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:635781
    Gem1; GTPase SAR1 family domain [General function prediction only]
    COG4886
    Location:302614
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:214488
    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:95214
    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:12481523
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:304330
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12796
    Location:126221
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:8441036
    COR; C-terminal of Roc, COR, domain
    sd00045
    Location:156186
    ANK; ANK repeat [structural motif]
    cl21455
    Location:639821
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  4. XM_011522013.2XP_011520315.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X1

    See identical proteins and their annotated locations for XP_011520315.1

    UniProtKB/Swiss-Prot
    Q38SD2
    Conserved Domains (11) summary
    smart00220
    Location:12451511
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:635781
    Gem1; GTPase SAR1 family domain [General function prediction only]
    COG4886
    Location:302614
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:214488
    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:95214
    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:12481523
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:304330
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12796
    Location:126221
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:8441036
    COR; C-terminal of Roc, COR, domain
    sd00045
    Location:156186
    ANK; ANK repeat [structural motif]
    cl21455
    Location:639821
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_011522016.2XP_011520318.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X4

    Conserved Domains (11) summary
    smart00220
    Location:11441410
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:534680
    Gem1; GTPase SAR1 family domain [General function prediction only]
    COG4886
    Location:201513
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:113387
    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:25117
    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:11471422
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:203229
    LRR_RI; leucine-rich repeat [structural motif]
    pfam12796
    Location:25120
    Ank_2; Ankyrin repeats (3 copies)
    pfam16095
    Location:743935
    COR; C-terminal of Roc, COR, domain
    sd00045
    Location:5585
    ANK; ANK repeat [structural motif]
    cl21455
    Location:538720
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  6. XM_011522015.3XP_011520317.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X3

    Conserved Domains (8) summary
    smart00220
    Location:9971263
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    COG1100
    Location:387533
    Gem1; GTPase SAR1 family domain [General function prediction only]
    COG4886
    Location:54366
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    cd00116
    Location:55240
    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 ...
    cd14067
    Location:10001275
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    sd00033
    Location:5682
    LRR_RI; leucine-rich repeat [structural motif]
    pfam16095
    Location:596788
    COR; C-terminal of Roc, COR, domain
    cl21455
    Location:391573
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  7. XM_017022570.1XP_016878059.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X5

  8. XM_005254979.3XP_005255036.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X6

    See identical proteins and their annotated locations for XP_005255036.1

    Conserved Domains (4) summary
    smart00220
    Location:540806
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14067
    Location:543818
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    pfam16095
    Location:139331
    COR; C-terminal of Roc, COR, domain
    cl21455
    Location:6116
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  9. XM_011522018.2XP_011520320.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X6

    See identical proteins and their annotated locations for XP_011520320.1

    Conserved Domains (4) summary
    smart00220
    Location:540806
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14067
    Location:543818
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    pfam16095
    Location:139331
    COR; C-terminal of Roc, COR, domain
    cl21455
    Location:6116
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  10. XM_011522017.2XP_011520319.1  leucine-rich repeat serine/threonine-protein kinase 1 isoform X6

    See identical proteins and their annotated locations for XP_011520319.1

    Conserved Domains (4) summary
    smart00220
    Location:540806
    S_TKc; Serine/Threonine protein kinases, catalytic domain
    cd14067
    Location:543818
    STKc_LRRK1; Catalytic domain of the Serine/Threonine Kinase, Leucine-Rich Repeat Kinase 1
    pfam16095
    Location:139331
    COR; C-terminal of Roc, COR, domain
    cl21455
    Location:6116
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_931905.2 RNA Sequence

Support Center