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

Gene ID: 18100, updated on 27-Nov-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, Nov 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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