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

    Gene ID: 51642, updated on 5-Mar-2024

    Summary

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    Official Symbol
    MRPL48provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L48provided by HGNC
    Primary source
    HGNC:HGNC:16653
    See related
    Ensembl:ENSG00000175581 MIM:611853; AllianceGenome:HGNC:16653
    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
    mL48; 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.1), colon (RPKM 8.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    11q13.4
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (73787874..73865133)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (73717022..73794282)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (73498919..73576178)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RAB6A, member RAS oncogene family Neighboring gene musashi RNA binding protein 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73461590-73462090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:73462091-73462591 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73471270-73471770 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3747 Neighboring gene uncharacterized LOC124902711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3748 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:73487605-73488471 Neighboring gene CRISPRi-validated cis-regulatory element chr11.4166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5241 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5242 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73508167-73508686 Neighboring gene MPRA-validated peak1351 silencer Neighboring gene RN7SK pseudogene 243 Neighboring gene Sharpr-MPRA regulatory region 5745 Neighboring gene MIX23 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5243 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5244 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:73608007-73608786 Neighboring gene cytochrome c oxidase assembly factor 4 homolog Neighboring gene proteasomal ATPase associated factor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5245 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:73631557-73631769 Neighboring gene actin related protein 2/3 complex subunit 3 pseudogene 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

    Bibliography

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    Related articles in PubMed

    1. Candidate diagnostic markers and tumor suppressor genes for adrenocortical carcinoma by expression profile of genes on chromosome 11q13. Fernandez-Ranvier GG, et al. World J Surg, 2008 May. PMID 18324346
    2. Properties of the C-terminal tail of human mitochondrial inner membrane protein Oxa1L and its interactions with mammalian mitochondrial ribosomes. Haque ME, et al. J Biol Chem, 2010 Sep 3. PMID 20601428, Free PMC Article
    3. GRSF1 regulates RNA processing in mitochondrial RNA granules. Jourdain AA, et al. Cell Metab, 2013 Mar 5. PMID 23473034, Free PMC Article
    4. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. Koc EC, et al. J Biol Chem, 2001 Nov 23. PMID 11551941
    5. Structures of the human mitochondrial ribosome in native states of assembly. Brown A, et al. Nat Struct Mol Biol, 2017 Oct. PMID 28892042, Free PMC Article

    See all (62) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MRPL48 is a novel prognostic and predictive biomarker of hepatocellular carcinoma.
      Title: MRPL48 is a novel prognostic and predictive biomarker of hepatocellular carcinoma.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • FLJ17047, FLJ99260, MGC13323

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    large ribosomal subunit protein mL48
    Names
    39S ribosomal protein L48, mitochondrial
    mitochondrial large ribosomal subunit protein mL48

    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_001318498.2 → NP_001305427.1  large ribosomal subunit protein mL48 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, AP002770, BQ446725
      UniProtKB/Swiss-Prot
      Q96GC5
      Conserved Domains (1) summary
      pfam00338
      Location:74 → 168
      Ribosomal_S10; Ribosomal protein S10p/S20e

    2. NM_001318499.2 → NP_001305428.1  large ribosomal subunit protein mL48 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the longest isoform (2).
      Source sequence(s)
      AK297746, AP002770, BP210564, BQ446725
      UniProtKB/Swiss-Prot
      Q96GC5
      Conserved Domains (1) summary
      pfam00338
      Location:133 → 227
      Ribosomal_S10; Ribosomal protein S10p/S20e

    3. NM_001318500.2 → NP_001305429.1  large ribosomal subunit protein mL48 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, AP002770, BQ446725, BU600573
      Consensus CDS
      CCDS81594.1
      UniProtKB/TrEMBL
      F5H8D0
      Related
      ENSP00000443685.1, ENST00000542303.5
      Conserved Domains (1) summary
      cl00314
      Location:59 → 95
      Ribosomal_S10; Ribosomal protein S10p/S20e

    4. NM_016055.6 → NP_057139.1  large ribosomal subunit protein mL48 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)
      AP002770, BC009764, CF529680, DA549653
      Consensus CDS
      CCDS44676.1
      UniProtKB/Swiss-Prot
      B4DN34, Q49AK7, Q4U2Q4, Q96GC5, Q9P091, Q9Y5J0
      Related
      ENSP00000308717.7, ENST00000310614.12
      Conserved Domains (1) summary
      pfam00338
      Location:92 → 187
      Ribosomal_S10; Ribosomal protein S10p/S20e

    RNA

    1. NR_134658.2 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
      Related
      ENST00000508278.6

    2. NR_134659.2 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, AP002770, BQ446725

    3. NR_134660.2 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, AP002770, BQ446725, BX354271

    4. NR_134661.2 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      73787874..73865133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427121.1 → XP_047283077.1  large ribosomal subunit protein mL48 isoform X1

    2. XM_047427122.1 → XP_047283078.1  large ribosomal subunit protein mL48 isoform X2

      UniProtKB/TrEMBL
      F5H702
      Related
      ENSP00000321539.7, ENST00000314282.7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      73717022..73794282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369120.1 → XP_054225095.1  large ribosomal subunit protein mL48 isoform X1

    2. XM_054369121.1 → XP_054225096.1  large ribosomal subunit protein mL48 isoform X2

      UniProtKB/TrEMBL
      F5H702

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96GC5.2 GenPept UniProtKB/Swiss-Prot:Q96GC5

    Gene LinkOut

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

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