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    Mrpl40 mitochondrial ribosomal protein L40 [ Mus musculus (house mouse) ]

    Gene ID: 18100, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Mrpl40provided by MGI
    Official Full Name
    mitochondrial ribosomal protein L40provided by MGI
    Primary source
    MGI:MGI:1332635
    See related
    Ensembl:ENSMUSG00000022706 AllianceGenome:MGI:1332635
    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
    Nlvcf
    Summary
    Located in mitochondrion. Is expressed in several structures, including branchial arch; central nervous system; early conceptus; gonad; and limb bud. Orthologous to human MRPL40 (mitochondrial ribosomal protein L40). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in placenta adult (RPKM 15.1), CNS E11.5 (RPKM 12.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mrpl40 in Genome Data Viewer
    Location:
    16 A3; 16 11.69 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 16 NC_000082.7 (18690767..18695875, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 16 NC_000082.6 (18872018..18876637, complement)

    Chromosome 16 - NC_000082.7Genomic Context describing neighboring genes Neighboring gene cell division cycle 45 Neighboring gene STARR-positive B cell enhancer ABC_E763 Neighboring gene CapStarr-seq enhancer MGSCv37_chr16:18812268-18812501 Neighboring gene RIKEN cDNA 2510002D24 gene Neighboring gene STARR-positive B cell enhancer ABC_E10892 Neighboring gene ubiquitin recognition factor in ER-associated degradation 1 Neighboring gene histone cell cycle regulator Neighboring gene 60S ribosomal protein L27a-like Neighboring gene STARR-positive B cell enhancer ABC_E5530 Neighboring gene STARR-positive B cell enhancer ABC_E392 Neighboring gene STARR-positive B cell enhancer ABC_E11605 Neighboring gene U2 small nuclear ribonucleoprotein B 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. Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. Funke B, et al. Genomics, 1998 Oct 15. PMID 9790763
    2. Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development. Amati F, et al. Gene, 2007 Apr 15. PMID 17321697
    3. Haploinsufficiency of the 22q11.2 microdeletion gene Mrpl40 disrupts short-term synaptic plasticity and working memory through dysregulation of mitochondrial calcium. Devaraju P, et al. Mol Psychiatry, 2017 Sep. PMID 27184122, Free PMC Article
    4. Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes. Maynard TM, et al. Mol Cell Neurosci, 2008 Nov. PMID 18775783, Free PMC Article
    5. Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region. Puech A, et al. Proc Natl Acad Sci U S A, 2000 Aug 29. PMID 10963672, Free PMC Article

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1) 

    Pathways from PubChem

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    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

    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of mitochondrial large ribosomal subunit ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    is_active_in mitochondrial ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial ribosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitochondrial ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrion HDA PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    large ribosomal subunit protein mL40
    Names
    39S ribosomal protein L40, mitochondrial
    L40mt
    MRP-L40
    nuclear localization signal protein absent in velo-cardio-facial patients
    nuclear localization signal-containing protein deleted in velocardiofacial syndrome homolog

    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_010922.2 → NP_035052.2  large ribosomal subunit protein mL40 precursor

      See identical proteins and their annotated locations for NP_035052.2

      Status: VALIDATED

      Source sequence(s)
      AA240860, AK145885
      Consensus CDS
      CCDS28030.1
      UniProtKB/Swiss-Prot
      Q9CS52, Q9Z2Q5
      UniProtKB/TrEMBL
      Q3UKS6
      Related
      ENSMUSP00000023391.9, ENSMUST00000023391.16
      Conserved Domains (1) summary
      pfam09812
      Location:45 → 182
      MRP-L28; Mitochondrial ribosomal protein L28

    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_000082.7 Reference GRCm39 C57BL/6J

      Range
      18690767..18695875 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036159817.1 → XP_036015710.1  large ribosomal subunit protein mL40 isoform X1

      UniProtKB/TrEMBL
      D3Z7C0
      Related
      ENSMUSP00000113065.2, ENSMUST00000119273.2
      Conserved Domains (1) summary
      pfam09812
      Location:1 → 155
      MRP-L28; Mitochondrial ribosomal protein L28
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z2Q5.2 GenPept UniProtKB/Swiss-Prot:Q9Z2Q5

    Gene LinkOut

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

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