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MRPL22 mitochondrial ribosomal protein L22 [ Homo sapiens (human) ]

Gene ID: 29093, updated on 5-Mar-2024

Summary

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Official Symbol
MRPL22provided by HGNC
Official Full Name
mitochondrial ribosomal protein L22provided by HGNC
Primary source
HGNC:HGNC:14480
See related
Ensembl:ENSG00000082515 MIM:611835; AllianceGenome:HGNC:14480
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
L22mt; uL22m; RPML25; HSPC158; MRP-L22; MRP-L25
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 that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in testis (RPKM 4.5), adrenal (RPKM 4.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
5q33.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (154941073..154969411)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (155474971..155503310)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (154320633..154348971)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901119 Neighboring gene gem nuclear organelle associated protein 5 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr5:154287897-154288396 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:154317267-154317858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23491 Neighboring gene cytochrome c oxidase subunit 7A2 like pseudogene Neighboring gene kinesin family member 4B

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. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. O'Brien TW. Gene, 2002 Mar 6. PMID 11943462
  2. Mammalian mitochondrial ribosomal proteins. N-terminal amino acid sequencing, characterization, and identification of corresponding gene sequences. Goldschmidt-Reisin S, et al. J Biol Chem, 1998 Dec 25. PMID 9857009
  3. The identification of novel proteins that interact with the GLP-1 receptor and restrain its activity. Huang X, et al. Mol Endocrinol, 2013 Sep. PMID 23864651, Free PMC Article
  4. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. Yagi M, et al. Nucleic Acids Res, 2012 Oct. PMID 22904065, Free PMC Article
  5. 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

See all (74) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
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

Clone Names

  • DKFZp781F1071

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
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
  
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 NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
large ribosomal subunit protein uL22m
Names
39S ribosomal protein L22, mitochondrial
39S ribosomal protein L25, mitochondrial
L25mt
mitochondrial large ribosomal subunit protein uL22m

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_001014990.3 → NP_001014990.1  large ribosomal subunit protein uL22m isoform b

    See identical proteins and their annotated locations for NP_001014990.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AC008410, BP372420, CR933679
    Consensus CDS
    CCDS43391.1
    UniProtKB/Swiss-Prot
    Q9NWU5
    Related
    ENSP00000265229.8, ENST00000265229.12
    Conserved Domains (1) summary
    pfam00237
    Location:1 → 92
    Ribosomal_L22; Ribosomal protein L22p/L17e

  2. NM_014180.4 → NP_054899.2  large ribosomal subunit protein uL22m isoform a

    See identical proteins and their annotated locations for NP_054899.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AC008410, AK000601, BP372420, CR933679
    Consensus CDS
    CCDS4331.1
    UniProtKB/Swiss-Prot
    A6NGJ8, Q5H9Q1, Q96Q51, Q9NWU5, Q9P006
    UniProtKB/TrEMBL
    J3KQY1
    Related
    ENSP00000431040.1, ENST00000523037.6
    Conserved Domains (1) summary
    pfam00237
    Location:69 → 172
    Ribosomal_L22; Ribosomal protein L22p/L17e

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    154941073..154969411
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    155474971..155503310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NWU5.1 GenPept UniProtKB/Swiss-Prot:Q9NWU5

Gene LinkOut

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