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

Gene ID: 122704, updated on 5-Mar-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
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Genomic context

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Location:
14q11.2
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22829887..22835037)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17027950..17033103)
105.20220307 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
  • 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 (35) 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 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 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_2023_10

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

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