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

Gene ID: 122704, updated on 21-Dec-2019

Summary

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
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
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

Genomic context

See MRPL52 in Genome Data Viewer
Location:
14q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (22829862..22835037)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23299088..23304246)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene OXA1L mitochondrial inner membrane protein Neighboring gene solute carrier family 7 member 7 Neighboring gene matrix metallopeptidase 14 Neighboring gene Sharpr-MPRA regulatory region 964

Genomic regions, transcripts, and products

Expression

  • 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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
structural constituent of ribosome ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
translation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
translation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial large ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial large ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial large ribosomal subunit ISS
Inferred from Sequence or Structural Similarity
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001318870.2NP_001305799.1  39S ribosomal protein L52, mitochondrial 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_178336.3NP_848026.1  39S ribosomal protein L52, mitochondrial 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
    Q86TS9
    Related
    ENSP00000347277.5, ENST00000355151.9
  3. NM_180982.3NP_851313.1  39S ribosomal protein L52, mitochondrial 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/Swiss-Prot
    Q86TS9
    Related
    ENSP00000380633.3, ENST00000397496.7
  4. NM_181304.3NP_851821.1  39S ribosomal protein L52, mitochondrial 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_181305.3NP_851822.1  39S ribosomal protein L52, mitochondrial 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_181306.3NP_851823.1  39S ribosomal protein L52, mitochondrial 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_181307.3NP_851824.1  39S ribosomal protein L52, mitochondrial 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/Swiss-Prot
    Q86TS9
    Related
    ENSP00000380642.2, ENST00000397505.2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    22829862..22835037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005267325.5XP_005267382.1  39S ribosomal protein L52, mitochondrial isoform X1

  2. XM_005267328.3XP_005267385.1  39S ribosomal protein L52, mitochondrial isoform X2

    See identical proteins and their annotated locations for XP_005267385.1

    UniProtKB/Swiss-Prot
    Q86TS9
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