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

Gene ID: 56945, updated on 1-Jun-2020

Summary

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
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; 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

Genomic context

See MRPS22 in Genome Data Viewer
Location:
3q23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (139343994..139357140)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (139062861..139075888)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene blepharophimosis, epicanthus inversus and ptosis candidate 1 Neighboring gene PISRT1 lncRNA Neighboring gene Sharpr-MPRA regulatory region 3993 Neighboring gene uncharacterized LOC100507291 Neighboring gene COPI coat complex subunit beta 2 Neighboring gene retinol binding protein 2 Neighboring gene actin gamma 1 pseudogene 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Combined oxidative phosphorylation deficiency 5
MedGen: C2673642 OMIM: 611719 GeneReviews: Not available
Compare labs
OVARIAN DYSGENESIS 7
MedGen: C4748263 OMIM: 618117 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

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 IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
mitochondrial translational elongation TAS
Traceable Author Statement
more info
 
mitochondrial translational termination TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial ribosome NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial small ribosomal subunit IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial small ribosomal subunit IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

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

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.

Genomic

  1. NG_012174.1 RefSeqGene

    Range
    4976..18122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363857.1NP_001350786.1  28S ribosomal protein S22, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC024933
    Consensus CDS
    CCDS87144.1
    Related
    ENSP00000419303.1, ENST00000478464.5
    Conserved Domains (1) summary
    pfam10245
    Location:27268
    MRP-S22; Mitochondrial 28S ribosomal protein S22
  2. NM_001363893.1NP_001350822.1  28S ribosomal protein S22, mitochondrial 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
    Related
    ENSP00000418233.1, ENST00000465056.5
    Conserved Domains (1) summary
    pfam10245
    Location:67308
    MRP-S22; Mitochondrial 28S ribosomal protein S22
  3. NM_020191.4NP_064576.1  28S ribosomal protein S22, mitochondrial 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
    Related
    ENSP00000310785.4, ENST00000310776.8
    Conserved Domains (1) summary
    pfam10245
    Location:68308
    MRP-S22; Mitochondrial 28S ribosomal protein S22

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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