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    MRPL52 mitochondrial ribosomal protein L52 [ Homo sapiens (human) ]

    Gene ID: 122704, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MRPL52provided by HGNC
    Official Full Name
    mitochondrial ribosomal protein L52provided by HGNC
    Primary source
    HGNC:HGNC:16655
    See related
    Ensembl:ENSG00000172590 MIM:611856; AllianceGenome:HGNC:16655
    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
    mL52
    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 which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in kidney (RPKM 8.1), colon (RPKM 7.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MRPL52 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22829887..22835037)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17027950..17033103)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23299096..23304246)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:23235619-23236182 Neighboring gene OXA1L mitochondrial inner membrane protein Neighboring gene solute carrier family 7 member 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23252646-23252816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8141 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5588 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5589 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5590 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23283939-23284445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8143 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23289156-23289728 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5591 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23292150-23292379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23293501-23294397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8144 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:23305452-23305668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312200-23312700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312701-23313201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23314693-23315218 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23315743-23316266 Neighboring gene matrix metallopeptidase 14 Neighboring gene Sharpr-MPRA regulatory region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5592 Neighboring gene LDL receptor related protein 10

    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 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. HIF-1-induced mitochondrial ribosome protein L52: a mechanism for breast cancer cellular adaptation and metastatic initiation in response to hypoxia. Li X, et al. Theranostics, 2021. PMID 34158854, Free PMC Article
    2. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. O'Brien TW. Gene, 2002 Mar 6. PMID 11943462
    3. 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
    4. Cold-inducible RBM3 inhibits PERK phosphorylation through cooperation with NF90 to protect cells from endoplasmic reticulum stress. Zhu X, et al. FASEB J, 2016 Feb. PMID 26472337
    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 (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HIF-1-induced mitochondrial ribosome protein L52: a mechanism for breast cancer cellular adaptation and metastatic initiation in response to hypoxia.
      Title: HIF-1-induced mitochondrial ribosome protein L52: a mechanism for breast cancer cellular adaptation and metastatic initiation in response to hypoxia.
    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

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables structural constituent of ribosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial translation NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in translation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in translation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial large ribosomal subunit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial large ribosomal subunit ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    part_of mitochondrial large ribosomal subunit NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    large ribosomal subunit protein mL52
    Names
    39S ribosomal protein L52, mitochondrial
    L52mt
    MRP-L52
    mitochondrial large ribosomal subunit protein mL52

    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_001318870.2 → NP_001305799.1  large ribosomal subunit protein mL52 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) differs in the 3' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform f) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA282747, AL135998
      Consensus CDS
      CCDS81791.1
      UniProtKB/TrEMBL
      G5E9P5
      Related
      ENSP00000406655.3, ENST00000432849.7

    2. NM_178336.3 → NP_848026.1  large ribosomal subunit protein mL52 isoform a

      See identical proteins and their annotated locations for NP_848026.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is the predominant transcript and it encodes the longest isoform (a).
      Source sequence(s)
      AA282747, BQ082981, BX248749
      Consensus CDS
      CCDS41917.1
      UniProtKB/Swiss-Prot
      A6NMQ8, A8MXK5, A8MYI6, G3XCN9, Q6NVH8, Q86TS9
      UniProtKB/TrEMBL
      A8K7J6
      Related
      ENSP00000347277.5, ENST00000355151.9
      Conserved Domains (1) summary
      pfam18699
      Location:24 → 113
      MRPL52; Mitoribosomal protein mL52

    3. NM_180982.3 → NP_851313.1  large ribosomal subunit protein mL52 isoform c

      See identical proteins and their annotated locations for NP_851313.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform c) compared to isoform a.
      Source sequence(s)
      AA282747, BQ082981, BX248749
      Consensus CDS
      CCDS9575.1
      UniProtKB/TrEMBL
      A8K7J6
      Related
      ENSP00000380633.3, ENST00000397496.7

    4. NM_181304.3 → NP_851821.1  large ribosomal subunit protein mL52 isoform d

      See identical proteins and their annotated locations for NP_851821.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains two additional segments, compared to variant 1, which leads to the use of a downstream start codon. The predicted protein (isoform d) is shorter than isoform a. The predicted ORF of this transcript has not been experimentally confirmed. Variants 4, 5 and 6 encode the same isoform.
      Source sequence(s)
      AA282747, AK000450, BG714882, BQ082981, BX248749
      Consensus CDS
      CCDS41918.1
      UniProtKB/Swiss-Prot
      Q86TS9
      Related
      ENSP00000451303.1, ENST00000553711.5

    5. NM_181305.3 → NP_851822.1  large ribosomal subunit protein mL52 isoform d

      See identical proteins and their annotated locations for NP_851822.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an additional segment, compared to variant 1, which leads to the use of a downstream start codon. The predicted protein (isoform d) is shorter than isoform a. The predicted ORF of this transcript has not been experimentally confirmed. Variants 4, 5 and 6 encode the same isoform.
      Source sequence(s)
      AA282747, BG714882, BQ082981, BX248749
      Consensus CDS
      CCDS41918.1
      UniProtKB/Swiss-Prot
      Q86TS9
      Related
      ENSP00000451081.1, ENST00000555345.5

    6. NM_181306.3 → NP_851823.1  large ribosomal subunit protein mL52 isoform d

      See identical proteins and their annotated locations for NP_851823.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) uses an alternate splice site in the 5' coding region, compared to variant 1, which leads to the use of a downstream start codon. The predicted protein (isoform d) is shorter than isoform a. The predicted ORF of this transcript has not been experimentally confirmed. Variants 4, 5 and 6 encode the same isoform.
      Source sequence(s)
      AA282747, BQ082981, BX248749, DA917052
      Consensus CDS
      CCDS41918.1
      UniProtKB/Swiss-Prot
      Q86TS9
      Related
      ENSP00000451481.1, ENST00000556840.5

    7. NM_181307.3 → NP_851824.1  large ribosomal subunit protein mL52 isoform e

      See identical proteins and their annotated locations for NP_851824.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks an alternate segment, compared to variant 1, resulting in a shorter protein (isoform e) with a distinct C-terminus compared to isoform a. The predicted ORF of this transcript has not been experimentally confirmed.
      Source sequence(s)
      AA282747, BQ082981, BX248749
      Consensus CDS
      CCDS9576.1
      UniProtKB/TrEMBL
      G3V4J1
      Related
      ENSP00000380642.2, ENST00000397505.2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      22829887..22835037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430919.1 → XP_047286875.1  large ribosomal subunit protein mL52 isoform X2

      Related
      ENST00000311892.10

    2. XM_047430918.1 → XP_047286874.1  large ribosomal subunit protein mL52 isoform X2

    3. XM_005267325.6 → XP_005267382.1  large ribosomal subunit protein mL52 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17027950..17033103
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375361.1 → XP_054231336.1  large ribosomal subunit protein mL52 isoform X2

    2. XM_054375359.1 → XP_054231334.1  large ribosomal subunit protein mL52 isoform X3

    3. XM_054375360.1 → XP_054231335.1  large ribosomal subunit protein mL52 isoform X4

    4. XM_054375358.1 → XP_054231333.1  large ribosomal subunit protein mL52 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_180981.1: Suppressed sequence

      Description
      NM_180981.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86TS9.2 GenPept UniProtKB/Swiss-Prot:Q86TS9

    Gene LinkOut

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

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