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    Lrrc49 leucine rich repeat containing 49 [ Mus musculus (house mouse) ]

    Gene ID: 102747, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Lrrc49provided by MGI
    Official Full Name
    leucine rich repeat containing 49provided by MGI
    Primary source
    MGI:MGI:2442689
    See related
    Ensembl:ENSMUSG00000047766 AllianceGenome:MGI:2442689
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    p79; PGs4; D430025H09Rik
    Summary
    Predicted to be located in centriolar satellite. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and retina nuclear layer. Orthologous to human LRRC49 (leucine rich repeat containing 49). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 22.0), CNS E14 (RPKM 16.6) and 13 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Lrrc49 in Genome Data Viewer
    Location:
    9 B; 9 32.75 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (60494507..60595460, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (60587224..60688167, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 9230112J17 gene Neighboring gene STARR-seq mESC enhancer starr_24321 Neighboring gene predicted gene, 51679 Neighboring gene STARR-seq mESC enhancer starr_24322 Neighboring gene annexin A7 pseudogene Neighboring gene STARR-seq mESC enhancer starr_24323 Neighboring gene La ribonucleoprotein 6, translational regulator Neighboring gene STARR-seq mESC enhancer starr_24324 Neighboring gene RIKEN cDNA 1700036A12 gene

    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. Reduced circ_lrrc49 in trigeminal ganglion contributes to neuropathic pain in mice by downregulating Ist1 and impairing autophagy. Tang Q, et al. J Neurochem, 2024 Jul. PMID 38348636
    2. Tubulin polyglutamylase enzymes are members of the TTL domain protein family. Janke C, et al. Science, 2005 Jun 17. PMID 15890843
    3. Cracking the egg: molecular dynamics and evolutionary aspects of the transition from the fully grown oocyte to embryo. Evsikov AV, et al. Genes Dev, 2006 Oct 1. PMID 17015433, Free PMC Article
    4. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article
    5. KCTD13-mediated ubiquitination and degradation of GluN1 regulates excitatory synaptic transmission and seizure susceptibility. Gu J, et al. Cell Death Differ, 2023 Jul. PMID 37142655, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reduced circ_lrrc49 in trigeminal ganglion contributes to neuropathic pain in mice by downregulating Ist1 and impairing autophagy.
      Title: Reduced circ_lrrc49 in trigeminal ganglion contributes to neuropathic pain in mice by downregulating Ist1 and impairing autophagy.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in centriolar satellite IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in centriolar satellite ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine-rich repeat-containing protein 49
    Names
    tubulin polyglutamylase complex subunit 4

    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_001146046.1 → NP_001139518.1  leucine-rich repeat-containing protein 49 isoform 1

      See identical proteins and their annotated locations for NP_001139518.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an in-frame exon in the 5' coding region, compared to variant 2, and encodes a protein (isoform 1) with a shorter N-terminus, compared to isoform 2.
      Source sequence(s)
      AK041627, AK049268, AK051325, AW050057, CF737193, DV658343
      Consensus CDS
      CCDS52822.1
      UniProtKB/Swiss-Prot
      Q8C3S4, Q8C7T7, Q91YK0
      UniProtKB/TrEMBL
      G5E8R5
      Related
      ENSMUSP00000109668.3, ENSMUST00000114034.9
      Conserved Domains (3) summary
      sd00033
      Location:114 → 135
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:156 → 198
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:202 → 256
      LRR_8; Leucine rich repeat

    2. NM_001146047.1 → NP_001139519.1  leucine-rich repeat-containing protein 49 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate exon at its 5' end and uses a novel start codon, compared to variant 2. This difference results in a protein (isoform 3) with a shorter and distinct N-terminus, compared to isoform 2.
      Source sequence(s)
      AK049268, AK051325, AW050057, DV658343
      Consensus CDS
      CCDS52821.1
      UniProtKB/Swiss-Prot
      Q8C3S4, Q8C7T7, Q91YK0
      UniProtKB/TrEMBL
      E9Q8C9
      Related
      ENSMUSP00000128842.2, ENSMUST00000166168.8
      Conserved Domains (3) summary
      sd00033
      Location:174 → 195
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:216 → 258
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:262 → 316
      LRR_8; Leucine rich repeat

    3. NM_001311095.1 → NP_001298024.1  leucine-rich repeat-containing protein 49 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, uses an alternate translation initiation codon, and lacks an alternate in-frame exon in the 5' coding region compared to variant 2. It encodes isoform 4, which is shorter than and has a distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AC127370, AK051325, AK085022, BG143842
      Consensus CDS
      CCDS81016.1
      UniProtKB/Swiss-Prot
      Q8C3S4, Q8C7T7, Q91YK0
      UniProtKB/TrEMBL
      D3YWN5
      Related
      ENSMUSP00000109666.2, ENSMUST00000114032.8
      Conserved Domains (3) summary
      sd00033
      Location:108 → 129
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:150 → 192
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:196 → 250
      LRR_8; Leucine rich repeat

    4. NM_145616.4 → NP_663591.3  leucine-rich repeat-containing protein 49 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
      Source sequence(s)
      AK049268, AK051325, AW050057, CF737193, DV658343
      Consensus CDS
      CCDS23257.1
      UniProtKB/Swiss-Prot
      Q8C3S4, Q8C7T7, Q91YK0
      UniProtKB/TrEMBL
      E9QM16
      Related
      ENSMUSP00000070606.6, ENSMUST00000065603.12
      Conserved Domains (3) summary
      sd00033
      Location:180 → 201
      LRR_RI; leucine-rich repeat [structural motif]
      pfam12799
      Location:222 → 264
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:268 → 322
      LRR_8; Leucine rich repeat

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      60494507..60595460 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006510753.4 → XP_006510816.1  leucine-rich repeat-containing protein 49 isoform X1

      See identical proteins and their annotated locations for XP_006510816.1

      UniProtKB/Swiss-Prot
      Q91YK0

    2. XM_030243994.2 → XP_030099854.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9

    3. XM_030243990.2 → XP_030099850.1  leucine-rich repeat-containing protein 49 isoform X1

    4. XM_030243986.2 → XP_030099846.1  leucine-rich repeat-containing protein 49 isoform X1

    5. XM_017313093.3 → XP_017168582.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9

    6. XM_017313092.3 → XP_017168581.1  leucine-rich repeat-containing protein 49 isoform X1

      UniProtKB/Swiss-Prot
      Q91YK0

    7. XM_006510754.5 → XP_006510817.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9

    8. XM_030243987.2 → XP_030099847.1  leucine-rich repeat-containing protein 49 isoform X1

    9. XM_036154542.1 → XP_036010435.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9

    10. XM_036154539.1 → XP_036010432.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9

    11. XM_030243993.2 → XP_030099853.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9

    12. XM_030243989.2 → XP_030099849.1  leucine-rich repeat-containing protein 49 isoform X1

    13. XM_036154541.1 → XP_036010434.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9
      Related
      ENSMUSP00000057014.8, ENSMUST00000053171.14

    14. XM_030243988.2 → XP_030099848.1  leucine-rich repeat-containing protein 49 isoform X1

    15. XM_030243995.2 → XP_030099855.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9

    16. XM_030243991.2 → XP_030099851.1  leucine-rich repeat-containing protein 49 isoform X1

    17. XM_030243992.2 → XP_030099852.1  leucine-rich repeat-containing protein 49 isoform X2

      UniProtKB/TrEMBL
      D3YUD9
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91YK0.1 GenPept UniProtKB/Swiss-Prot:Q91YK0

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