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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
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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

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