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    MRPL45 mitochondrial ribosomal protein L45 [ Homo sapiens (human) ]

    Gene ID: 84311, updated on 15-Jun-2019

    Summary

    Official Symbol
    MRPL45provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L45provided by HGNC
    Primary source
    HGNC:HGNC:16651
    See related
    Ensembl:ENSG00000278845 MIM:611850
    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
    L45mt; MRP-L45
    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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]
    Expression
    Ubiquitous expression in thyroid (RPKM 16.2), kidney (RPKM 15.4) and 25 other tissues See more
    Orthologs

    Genomic context

    See MRPL45 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (38297023..38323218)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (36452989..36479101)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene aminopeptidase puromycin sensitive pseudogene Neighboring gene uncharacterized LOC105371760 Neighboring gene G protein-coupled receptor 179 Neighboring gene suppressor of cytokine signaling 7

    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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.
    NHGRI GWA Catalog

    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

    • MGC11321

    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
    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 
    mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    39S ribosomal protein L45, mitochondrial
    Names
    mitochondrial large ribosomal subunit protein mL45

    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_001278279.2NP_001265208.2  39S ribosomal protein L45, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC244092, AK293605, BC006235, BI767984, BP374871
      Consensus CDS
      CCDS74047.1
      UniProtKB/TrEMBL
      A0A087WU62, B4DEF8
      Related
      ENSP00000478397.1, ENST00000619548.1
      Conserved Domains (1) summary
      cl09208
      Location:119212
      Tim44; Tim44-like domain
    2. NM_032351.6NP_115727.5  39S ribosomal protein L45, mitochondrial isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK293605, BC006235
      Consensus CDS
      CCDS11326.1
      UniProtKB/TrEMBL
      A0A087X2D5, B4DEF8
      Related
      ENSP00000484903.1, ENST00000613675.5
      Conserved Domains (1) summary
      pfam04280
      Location:119262
      Tim44; Tim44-like domain

    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_000017.11 Reference GRCh38.p13 Primary Assembly

      Range
      38297023..38323218
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187614.1 Reference GRCh38.p13 ALT_REF_LOCI_1

      Range
      2332054..2358166
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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