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    MRPL48 mitochondrial ribosomal protein L48 [ Homo sapiens (human) ]

    Gene ID: 51642, updated on 14-Jun-2016
    Official Symbol
    MRPL48provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L48provided by HGNC
    Primary source
    HGNC:HGNC:16653
    See related
    Ensembl:ENSG00000175581 HPRD:14767; MIM:611853; Vega:OTTHUMG00000168048
    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
    L48MT; CGI-118; HSPC290; MRP-L48
    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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]
    Orthologs
    Location:
    11q13.4
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (73787872..73864611)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73498917..73575656)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene pleckstrin homology domain containing B1 Neighboring gene RAB6A, member RAS oncogene family Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene RNA, 7SK small nuclear pseudogene 243 Neighboring gene coiled-coil domain containing 58 pseudogene 5 Neighboring gene cytochrome c oxidase assembly factor 4 homolog Neighboring gene proteasomal ATPase associated factor 1 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4

    NHGRI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ17047, FLJ99260, MGC13323

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    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 ribosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    39S ribosomal protein L48, mitochondrial

    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_001318498.1NP_001305427.1  39S ribosomal protein L48, mitochondrial isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon and contains another alternate exon compared to variant 2. The resulting isoform (3) has a shorter and distinct N-terminus compared to isoform 2.
      Source sequence(s)
      AK297746, BQ446725
      UniProtKB/Swiss-Prot
      Q96GC5
      Conserved Domains (1) summary
      pfam00338
      Location:73170
      Ribosomal_S10; Ribosomal protein S10p/S20e
    2. NM_001318499.1NP_001305428.1  39S ribosomal protein L48, mitochondrial isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      AK297746, BP210564, BQ446725
      UniProtKB/Swiss-Prot
      Q96GC5
      Conserved Domains (1) summary
      pfam00338
      Location:132229
      Ribosomal_S10; Ribosomal protein S10p/S20e
    3. NM_001318500.1NP_001305429.1  39S ribosomal protein L48, mitochondrial isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks three alternate coding exons compared to variant 2. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 2.
      Source sequence(s)
      AK297746, BQ446725, BU600573
      UniProtKB/Swiss-Prot
      Q96GC5
      UniProtKB/TrEMBL
      F5H8D0
      Related
      ENSP00000443685, OTTHUMP00000237707, ENST00000542303, OTTHUMT00000397742
    4. NM_016055.5NP_057139.1  39S ribosomal protein L48, mitochondrial isoform 1

      See identical proteins and their annotated locations for NP_057139.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon compared to variant 2. The resulting isoform (1) has the same N- and C-termini but is shorter compared to isoform 2.
      Source sequence(s)
      BC009764, CF529680, DA549653
      Consensus CDS
      CCDS44676.1
      UniProtKB/Swiss-Prot
      Q96GC5
      Related
      ENSP00000308717, OTTHUMP00000237698, ENST00000310614, OTTHUMT00000397733
      Conserved Domains (1) summary
      pfam00338
      Location:91188
      Ribosomal_S10; Ribosomal protein S10p/S20e

    RNA

    1. NR_134658.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK297746, AP002770, BI549412, BQ446725
    2. NR_134659.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate exon and contains two other alternate exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK297746, AK310005, BQ446725
      Related
      ENST00000411840, OTTHUMT00000397739
    3. NR_134660.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate exon and contains another alternate exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK297746, BQ446725, BX354271
      Related
      ENST00000398483, OTTHUMT00000397741
    4. NR_134661.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks three alternate exons compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK297746, AP002770, BQ446725, CF541319
      Related
      ENST00000543058, OTTHUMT00000397744

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      73787872..73864611
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017919.1XP_016873408.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      73382551..73459257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001030046.1: Suppressed sequence

      Description
      NM_001030046.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.