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    Khdrbs2 KH domain containing, RNA binding, signal transduction associated 2 [ Mus musculus (house mouse) ]

    Gene ID: 170771, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Khdrbs2provided by MGI
    Official Full Name
    KH domain containing, RNA binding, signal transduction associated 2provided by MGI
    Primary source
    MGI:MGI:2159649
    See related
    Ensembl:ENSMUSG00000026058 AllianceGenome:MGI:2159649
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Slm1; Slim1; Slm-1; mSLM-1; TG-RP135; 6330586C16Rik; Tg(LRRK2*R1441G)135Cjli
    Summary
    The protein encoded by this gene is similar to the src associated in mitosis, 68 kDa protein, which is an RNA-binding protein and a substrate for Src-family tyrosine kinases during mitosis. This protein has a KH RNA-binding motif and proline-rich motifs which may be SH2 and SH3 domain binding sites. A similar rat protein is an RNA-binding protein which is tyrosine phosphorylated by Src during mitosis. These studies also suggest that the rat protein may function as an adaptor protein for Src by binding the SH2 and SH3 domains of various other proteins. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in CNS E18 (RPKM 5.5), whole brain E14.5 (RPKM 5.1) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    1 B; 1 11.86 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (32211683..32744305)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (32172602..32705224)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_00522 Neighboring gene voltage-dependent anion channel 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_00523 Neighboring gene STARR-seq mESC enhancer starr_00524 Neighboring gene predicted gene, 51754 Neighboring gene predicted gene, 25814 Neighboring gene 40S ribosomal protein S28 pseudogene Neighboring gene STARR-seq mESC enhancer starr_00527 Neighboring gene predicted gene 9839 Neighboring gene SUMO/sentrin specific peptidase 2-like 1 Neighboring gene STARR-seq mESC enhancer starr_00528 Neighboring gene predicted gene, 24732 Neighboring gene STARR-seq mESC enhancer starr_00529 Neighboring gene STARR-seq mESC enhancer starr_00530 Neighboring gene STARR-seq mESC enhancer starr_00531 Neighboring gene STARR-seq mESC enhancer starr_00532 Neighboring gene SET domain containing 3 pseudogene Neighboring gene family with sequence similarity 192, member A pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. An early axonopathy in a hLRRK2(R1441G) transgenic model of Parkinson disease. Tagliaferro P, et al. Neurobiol Dis, 2015 Oct. PMID 26192625, Free PMC Article
    2. A novel mitochondrially-targeted apocynin derivative prevents hyposmia and loss of motor function in the leucine-rich repeat kinase 2 (LRRK2(R1441G)) transgenic mouse model of Parkinson's disease. Dranka BP, et al. Neurosci Lett, 2014 Nov 7. PMID 25263790, Free PMC Article
    3. Diapocynin prevents early Parkinson's disease symptoms in the leucine-rich repeat kinase 2 (LRRK2R¹⁴⁴¹G) transgenic mouse. Dranka BP, et al. Neurosci Lett, 2013 Aug 9. PMID 23721786, Free PMC Article
    4. Mutant LRRK2(R1441G) BAC transgenic mice recapitulate cardinal features of Parkinson's disease. Li Y, et al. Nat Neurosci, 2009 Jul. PMID 19503083, Free PMC Article
    5. 14-3-3 Proteins regulate mutant LRRK2 kinase activity and neurite shortening. Lavalley NJ, et al. Hum Mol Genet, 2016 Jan 1. PMID 26546614, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Deletion of SLM2 modifies alternative splicing of its paralog Slm1 and stabilizes its mRNA in hippocampus.
      Title: Alternative splicing coupled nonsense-mediated decay generates neuronal cell type-specific expression of SLM proteins.
    2. Cell type-specific expression of SLM1 provides a mechanism for shaping the molecular repertoires of synaptic adhesion molecules in neuronal populations in vivo.
      Title: Neuronal cell type-specific alternative splicing is regulated by the KH domain protein SLM1.
    3. expression of active BRK/Sik results in increased SLM-1 and SLM-2 phosphorylation which has functional relevance and leads to inhibition of their RNA-binding
      Title: The nuclear tyrosine kinase BRK/Sik phosphorylates and inhibits the RNA-binding activities of the Sam68-like mammalian proteins SLM-1 and SLM-2.
    4. SLIM1 localizes in an integrin-dependent manner to the nucleus and focal adhesions where it functions downstream of integrin activation to promote cell spreading and migration.
      Title: Skeletal muscle LIM protein 1 regulates integrin-mediated myoblast adhesion, spreading, and migration.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables SH2 domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables SH3 domain binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables nucleic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables poly(A) binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables poly(A) binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables poly(U) RNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of alternative mRNA splicing, via spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of mRNA splicing, via spliceosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    KH domain-containing, RNA-binding, signal transduction-associated protein 2
    Names
    LRRK2<R1441G>
    Sam68-like mammalian protein 1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_133235.3 → NP_573498.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2

      See identical proteins and their annotated locations for NP_573498.1

      Status: REVIEWED

      Source sequence(s)
      AC122027, AC124771, AC125216, AC140214
      Consensus CDS
      CCDS14861.1
      UniProtKB/Swiss-Prot
      Q6NXZ3, Q9WU01
      Related
      ENSMUSP00000027226.6, ENSMUST00000027226.12
      Conserved Domains (3) summary
      cd02395
      Location:61 → 180
      SF1_like-KH; Splicing factor 1 (SF1) K homology RNA-binding domain (KH). Splicing factor 1 (SF1) specifically recognizes the intron branch point sequence (BPS) UACUAAC in the pre-mRNA transcripts during spliceosome assembly. We show that the KH-QUA2 region of SF1 ...
      pfam16274
      Location:6 → 57
      Qua1; Qua1 domain
      pfam16568
      Location:267 → 321
      Sam68-YY; Tyrosine-rich domain of Sam68

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      32211683..32744305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162453.1 → XP_036018346.1  KH domain-containing, RNA-binding, signal transduction-associated protein 2 isoform X1

      Conserved Domains (2) summary
      pfam16274
      Location:5 → 57
      Qua1; Qua1 domain
      cl00098
      Location:54 → 171
      KH-I; K homology (KH) RNA-binding domain, type I

    RNA

    1. XR_004940680.1 RNA Sequence

    2. XR_004940681.1 RNA Sequence

    3. XR_001783141.2 RNA Sequence

    4. XR_373242.4 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9WU01.1 GenPept UniProtKB/Swiss-Prot:Q9WU01

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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