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MRPL53 mitochondrial ribosomal protein L53 [ Homo sapiens (human) ]

Gene ID: 116540, updated on 17-Jun-2024

Summary

Official Symbol
MRPL53provided by HGNC
Official Full Name
mitochondrial ribosomal protein L53provided by HGNC
Primary source
HGNC:HGNC:16684
See related
Ensembl:ENSG00000204822 MIM:611857; AllianceGenome:HGNC:16684
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
mL53; L53MT
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 1p. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in fat (RPKM 22.6), adrenal (RPKM 21.9) and 25 other tissues See more
Orthologs
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Genomic context

See MRPL53 in Genome Data Viewer
Location:
2p13.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (74471982..74472680, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (74480549..74481247, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (74699109..74699807, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene INO80B-WBP1 readthrough (NMD candidate) Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:74685443-74685950 Neighboring gene WW domain binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11664 Neighboring gene mannosyl-oligosaccharide glucosidase Neighboring gene Sharpr-MPRA regulatory region 2309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16060 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16061 Neighboring gene coiled-coil domain containing 142 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16063 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16065 Neighboring gene tetratricopeptide repeat domain 31

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 protein information

Preferred Names
large ribosomal subunit protein mL53
Names
39S ribosomal protein L53, mitochondrial
mitochondrial large ribosomal subunit protein mL53

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_053050.5NP_444278.1  large ribosomal subunit protein mL53

    See identical proteins and their annotated locations for NP_444278.1

    Status: REVIEWED

    Source sequence(s)
    BC012163, BQ014848
    Consensus CDS
    CCDS1944.1
    UniProtKB/Swiss-Prot
    Q96EL3
    Related
    ENSP00000258105.7, ENST00000258105.8
    Conserved Domains (1) summary
    pfam10780
    Location:2071
    MRP_L53; 39S ribosomal protein L53/MRP-L53

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    74471982..74472680 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    74480549..74481247 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)