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MRPS22 mitochondrial ribosomal protein S22 [ Homo sapiens (human) ]

Gene ID: 56945, updated on 14-Nov-2024

Summary

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Official Symbol
MRPS22provided by HGNC
Official Full Name
mitochondrial ribosomal protein S22provided by HGNC
Primary source
HGNC:HGNC:14508
See related
Ensembl:ENSG00000175110 MIM:605810; AllianceGenome:HGNC:14508
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
GIBT; ODG7; mS22; GK002; C3orf5; COXPD5; RPMS22; MRP-S22
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 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in adrenal (RPKM 27.8), testis (RPKM 18.6) and 25 other tissues See more
Orthologs
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Genomic context

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See MRPS22 in Genome Data Viewer
Location:
3q23
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139343994..139357140)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (142091547..142104693)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139062836..139075982)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906290 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:139002206-139002397 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:139008074-139008302 Neighboring gene uncharacterized LOC124909439 Neighboring gene Sharpr-MPRA regulatory region 3993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20611 Neighboring gene COPI coat complex subunit beta 2 Neighboring gene uncharacterized LOC124906339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:139108213-139108774 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:139108775-139109337 Neighboring gene COPB2 divergent transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:139191689-139192888 Neighboring gene retinol binding protein 2

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 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. A patient with mitochondrial disorder due to a novel mutation in MRPS22. Kılıç M, et al. Metab Brain Dis, 2017 Oct. PMID 28752220
  2. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. Saada A, et al. J Med Genet, 2007 Dec. PMID 17873122, Free PMC Article
  3. The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. Emdadul Haque M, et al. Mitochondrion, 2008 Jun. PMID 18539099, Free PMC Article
  4. Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. Melka MG, et al. J Clin Endocrinol Metab, 2012 Jan. PMID 22013104
  5. Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency. Chen A, et al. Hum Mol Genet, 2018 Jun 1. PMID 29566152, Free PMC Article

See all (154) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Here we report MRPS22 homozygous missense variants c.404G>A (p.R135Q) and c.605G>A (p.R202H) identified in four females from two independent consanguineous families as a novel genetic cause of Primary ovarian insufficiency in adolescents.
    Title: Mutations in the mitochondrial ribosomal protein MRPS22 lead to primary ovarian insufficiency.
  2. hypertrophic cardiomyopathy and tubulopathy may not be considered as constant features of MRPS22
    Title: A patient with mitochondrial disorder due to a novel mutation in MRPS22.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  4. The effect of mutated MRPS22 on the assembly of the small and large ribosomal subunits in human mitochondria is reported.
    Title: The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria.
  5. A mutation in the MRPS22 gene led to reduction of 12sRNA in fibroblasts and fatal neonatal hypertrophic cardiomyopathy & kidney tubulopathy.
    Title: Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation.
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

Associated conditions

Description Tests
Hypotonia with lactic acidemia and hyperammonemia
MedGen: C2673642 OMIM: 611719 GeneReviews: Not available
not available
Ovarian dysgenesis 7
MedGen: C4748263 OMIM: 618117 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables structural constituent of ribosome IBA
Inferred from Biological aspect of Ancestor
more info
  
enables structural constituent of ribosome IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mitochondrial translation NAS
Non-traceable Author Statement
more info
 PubMed 
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
  
located_in mitochondrial ribosome NAS
Non-traceable Author Statement
more info
 PubMed 
part_of mitochondrial small ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of mitochondrial small ribosomal subunit IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial small ribosomal subunit NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
small ribosomal subunit protein mS22
Names
28S ribosomal protein S22, mitochondrial
S22mt
mitochondrial small ribosomal subunit protein mS22

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.

Genomic

  1. NG_012174.1 RefSeqGene

    Range
    5002..18111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363857.1 → NP_001350786.1  small ribosomal subunit protein mS22 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC024933
    UniProtKB/TrEMBL
    G5E9W7
    Related
    ENSP00000419303.2, ENST00000478464.6
    Conserved Domains (1) summary
    pfam10245
    Location:27 → 268
    MRP-S22; Mitochondrial 28S ribosomal protein S22

  2. NM_001363893.1 → NP_001350822.1  small ribosomal subunit protein mS22 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
    Source sequence(s)
    AC024933
    Consensus CDS
    CCDS87143.1
    UniProtKB/TrEMBL
    A0A7P0MKV3, A0A8I5KSY5
    Related
    ENSP00000310785.5, ENST00000310776.9
    Conserved Domains (1) summary
    pfam10245
    Location:67 → 308
    MRP-S22; Mitochondrial 28S ribosomal protein S22

  3. NM_020191.4 → NP_064576.1  small ribosomal subunit protein mS22 isoform 1

    See identical proteins and their annotated locations for NP_064576.1

    Status: REVIEWED

    Source sequence(s)
    AC024933
    Consensus CDS
    CCDS3107.1
    UniProtKB/Swiss-Prot
    P82650, Q9H3I1
    UniProtKB/TrEMBL
    A0A8I5KSY5
    Related
    ENSP00000505414.1, ENST00000680020.1
    Conserved Domains (1) summary
    pfam10245
    Location:70 → 309
    MRP-S22; Mitochondrial 28S ribosomal protein S22

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    139343994..139357140
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    142091547..142104693
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P82650.1 GenPept UniProtKB/Swiss-Prot:P82650

Gene LinkOut

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