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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
    mouse all
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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

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

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