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    MRPL40 mitochondrial ribosomal protein L40 [ Homo sapiens (human) ]

    Gene ID: 64976, updated on 17-Jun-2019

    Summary

    Official Symbol
    MRPL40provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L40provided by HGNC
    Primary source
    HGNC:HGNC:14491
    See related
    Ensembl:ENSG00000185608 MIM:605089
    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
    URIM; L40mt; NLVCF; MRPL22; MRP-L22; MRP-L40
    Summary
    Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 13.6), heart (RPKM 10.7) and 25 other tissues See more
    Orthologs

    Genomic context

    See MRPL40 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (19431902..19436078)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (19419302..19423600)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372859 Neighboring gene histone cell cycle regulator Neighboring gene RNA, 7SL, cytoplasmic 168, pseudogene Neighboring gene uncharacterized LOC105372860 Neighboring gene chromosome 22 open reading frame 39 Neighboring gene ubiquitin recognition factor in ER associated degradation 1

    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

    Pathways from BioSystems

    • Mitochondrial translation, organism-specific biosystem (from REACTOME)
      Mitochondrial translation, organism-specific biosystemOf the roughly 1000 human mitochondrial proteins only 13 proteins, all of them hydrophobic inner membrane proteins that are components of the oxidative phosphorylation apparatus, are encoded in the m...
    • Mitochondrial translation elongation, organism-specific biosystem (from REACTOME)
      Mitochondrial translation elongation, organism-specific biosystemTranslation elongation proceeds by cycles of aminoacyl-tRNAs binding, peptide bond formation, and displacement of deacylated tRNAs (reviewed in Christian and Spremulli 2012). In each cycle an aminoac...
    • Mitochondrial translation initiation, organism-specific biosystem (from REACTOME)
      Mitochondrial translation initiation, organism-specific biosystemTranslation initiates with the mitochondrial mRNA binding the 28S subunit:MTIF3 (28S subunit:IF-3Mt, 28S subunit:IF3mt) complex together with MTIF2:GTP (IF-2Mt:GTP, IF2mt:GTP) (reviewed in Christian ...
    • Mitochondrial translation termination, organism-specific biosystem (from REACTOME)
      Mitochondrial translation termination, organism-specific biosystemTranslation is terminated when MTRF1L:GTP (MTRF1a:GTP) recognizes a UAA or UAG termination codon in the mRNA at the A site of the ribosome (Soleimanpour-Lichaei et al. 2007, reviewed in Richter et al...
    • Organelle biogenesis and maintenance, organism-specific biosystem (from REACTOME)
      Organelle biogenesis and maintenance, organism-specific biosystemThis module describes the biogenesis of organelles. Organelles are subcellular structures of distinctive morphology and function. The organelles of human cells include: mitochondria, endoplasmic reti...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC9400, FLJ41774

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    RNA binding HDA PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    mitochondrial translational elongation TAS
    Traceable Author Statement
    more info
     
    mitochondrial translational termination TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
     
    mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mitochondrial ribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrial ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    39S ribosomal protein L40, mitochondrial
    Names
    mitochondrial large ribosomal subunit protein mL40
    nuclear localization signal-containing protein deleted in velocardiofacial syndrome
    up-regulated in metastasis

    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.

    mRNA and Protein(s)

    1. NM_001318151.2NP_001305080.1  39S ribosomal protein L40, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks the predicted mitochondrial transit peptide compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      BM974354, BX382916, CN409565
      Conserved Domains (1) summary
      pfam09812
      Location:1139
      MRP-L28; Mitochondrial ribosomal protein L28
    2. NM_001318152.1NP_001305081.1  39S ribosomal protein L40, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus and lacks the predicted mitochondrial transit peptide compared to isoform 1. Both variants 2 and 3 encode the same isoform (2).
      Source sequence(s)
      BM974354, BP309678
      Conserved Domains (1) summary
      pfam09812
      Location:1139
      MRP-L28; Mitochondrial ribosomal protein L28
    3. NM_003776.3NP_003767.2  39S ribosomal protein L40, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_003767.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC000079, AK123768, BC009707, BM974354
      Consensus CDS
      CCDS13760.1
      UniProtKB/Swiss-Prot
      Q9NQ50
      Related
      ENSP00000333401.3, ENST00000333130.3
      Conserved Domains (1) summary
      pfam09812
      Location:45199
      MRP-L28; Mitochondrial ribosomal protein L28

    RefSeqs of Annotated Genomes: Homo sapiens 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_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      19431902..19436078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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