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... See more...

Aliases for MRPS14 Gene

Aliases for MRPS14 Gene

  • Mitochondrial Ribosomal Protein S14 2 3 5
  • Mitochondrial Small Ribosomal Subunit Protein US14m 3 4
  • 28S Ribosomal Protein S14, Mitochondrial 3 4
  • HSMRPS14 2 3
  • MRP-S14 3 4
  • S14mt 3 4
  • Mitochondrial 28S Ribosomal Protein S14 3
  • DJ262D12.2 3
  • COXPD38 3
  • MRPS14 5

External Ids for MRPS14 Gene

Previous GeneCards Identifiers for MRPS14 Gene

  • GC01M172507
  • GC01M170411
  • GC01M171562
  • GC01M172222
  • GC01M171714
  • GC01M173248
  • GC01M174979
  • GC01M146209

Summaries for MRPS14 Gene

Entrez Gene Summary for MRPS14 Gene

  • 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 belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

GeneCards Summary for MRPS14 Gene

MRPS14 (Mitochondrial Ribosomal Protein S14) is a Protein Coding gene. Diseases associated with MRPS14 include Combined Oxidative Phosphorylation Deficiency 38 and Hypertrophic Cardiomyopathy. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPS14 Gene

Genomics for MRPS14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPS14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPS14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPS14

Top Transcription factor binding sites by QIAGEN in the MRPS14 gene promoter:
  • AML1a
  • GATA-1
  • GCNF-2
  • HOXA9
  • HOXA9B
  • IRF-2
  • Meis-1
  • Meis-1b

Genomic Locations for MRPS14 Gene

Latest Assembly
chr1:175,010,789-175,023,425
(GRCh38/hg38)
Size:
12,637 bases
Orientation:
Minus strand

Previous Assembly
chr1:174,982,094-174,992,561
(GRCh37/hg19 by Entrez Gene)
Size:
10,468 bases
Orientation:
Minus strand

chr1:174,979,925-174,992,561
(GRCh37/hg19 by Ensembl)
Size:
12,637 bases
Orientation:
Minus strand

Genomic View for MRPS14 Gene

Genes around MRPS14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPS14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPS14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPS14 Gene

Proteins for MRPS14 Gene

  • Protein details for MRPS14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60783-RT14_HUMAN
    Recommended name:
    28S ribosomal protein S14, mitochondrial
    Protein Accession:
    O60783
    Secondary Accessions:
    • Q5R358

    Protein attributes for MRPS14 Gene

    Size:
    128 amino acids
    Molecular mass:
    15139 Da
    Quaternary structure:
    • Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins (PubMed:25838379). Interacts with LIAT1 (By similarity).

    Three dimensional structures from OCA and Proteopedia for MRPS14 Gene

neXtProt entry for MRPS14 Gene

Post-translational modifications for MRPS14 Gene

No Post-translational modifications

Other Protein References for MRPS14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPS14 Gene

Domains & Families for MRPS14 Gene

Gene Families for MRPS14 Gene

Protein Domains for MRPS14 Gene

InterPro:
Blocks:
  • Ribosomal protein S14

Suggested Antigen Peptide Sequences for MRPS14 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial ribosomal protein S14 (Q96Q61_HUMAN)
  • 28S ribosomal protein S14, mitochondrial (RT14_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60783

UniProtKB/Swiss-Prot:

RT14_HUMAN :
  • Belongs to the universal ribosomal protein uS14 family.
Family:
  • Belongs to the universal ribosomal protein uS14 family.
genes like me logo Genes that share domains with MRPS14: view

Function for MRPS14 Gene

Phenotypes From GWAS Catalog for MRPS14 Gene

Gene Ontology (GO) - Molecular Function for MRPS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003735 structural constituent of ribosome IBA,TAS 10938081
GO:0005515 protein binding IPI 32814053
genes like me logo Genes that share ontologies with MRPS14: view

Phenotypes for MRPS14 Gene

genes like me logo Genes that share phenotypes with MRPS14: view

Human Phenotype Ontology for MRPS14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for MRPS14 Gene

miRTarBase miRNAs that target MRPS14

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPS14

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPS14 Gene

Localization for MRPS14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPS14 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRPS14 gene
Compartment Confidence
mitochondrion 5
nucleus 2
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nuclear membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 10938081
GO:0005763 mitochondrial small ribosomal subunit IBA,IDA 25838379
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPS14: view

Pathways & Interactions for MRPS14 Gene

genes like me logo Genes that share pathways with MRPS14: view

Gene Ontology (GO) - Biological Process for MRPS14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IBA,NAS 10938081
GO:0032543 mitochondrial translation IMP 30358850
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPS14: view

No data available for SIGNOR curated interactions for MRPS14 Gene

Drugs & Compounds for MRPS14 Gene

No Compound Related Data Available

Transcripts for MRPS14 Gene

mRNA/cDNA for MRPS14 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPS14

Alternative Splicing Database (ASD) splice patterns (SP) for MRPS14 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6
SP1: - - - - -
SP2: - -
SP3: - - -
SP4: - -
SP5: - -

Relevant External Links for MRPS14 Gene

GeneLoc Exon Structure for
MRPS14

Expression for MRPS14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPS14 Gene

Protein differential expression in normal tissues from HIPED for MRPS14 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (23.6), Lung (12.0), and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPS14 Gene



Protein tissue co-expression partners for MRPS14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPS14

SOURCE GeneReport for Unigene cluster for MRPS14 Gene:

Hs.654858

Evidence on tissue expression from TISSUES for MRPS14 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with MRPS14: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPS14 Gene

Orthologs for MRPS14 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPS14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPS14 29 30
  • 99.48 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPS14 29
  • 89.32 (n)
-- 30
  • 89 (a)
OneToMany
-- 30
  • 86 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia MRPS14 29 30
  • 86.72 (n)
OneToMany
-- 30
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Mrps14 29 16 30
  • 86.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrps14 29
  • 85.68 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPS14 30
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPS14 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPS14 29 30
  • 71.16 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPS14 30
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrps14 29
  • 69.53 (n)
Str.19943 29
Zebrafish
(Danio rerio)
Actinopterygii mrps14 29 30
  • 69.37 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2810 29
Fruit Fly
(Drosophila melanogaster)
Insecta mRpS14 29 30
  • 57.6 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009077 29
  • 51.82 (n)
Worm
(Caenorhabditis elegans)
Secernentea mrps-14 30
  • 24 (a)
OneToOne
Species where no ortholog for MRPS14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MRPS14 Gene

ENSEMBL:
Gene Tree for MRPS14 (if available)
TreeFam:
Gene Tree for MRPS14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPS14: view image
Alliance of Genome Resources:
Additional Orthologs for MRPS14

Paralogs for MRPS14 Gene

No data available for Paralogs for MRPS14 Gene

Variants for MRPS14 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPS14 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs990763738 Pathogenic: Combined oxidative phosphorylation deficiency 38. Combined oxidative phosphorylation deficiency 38 (COXPD38) [MIM:618378] 175,014,734(-) G/Ap.Arg108Cys
NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPS14 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for MRPS14 Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.29; 6.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPS14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPS14
Leiden Open Variation Database (LOVD)
MRPS14

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MRPS14 Gene

Disorders for MRPS14 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPS14 Gene - From: OMI, CVR, GTR, SWI, COP, and GCD

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 38
  • coxpd38
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RT14_HUMAN
  • Combined oxidative phosphorylation deficiency 38 (COXPD38) [MIM:618378]: An autosomal recessive disorder due to mitochondrial dysfunction and characterized by perinatal hypertrophic cardiomyopathy, growth retardation, muscle hypotonia, elevated lactate, dysmorphy and mental retardation. {ECO:0000269 PubMed:30358850}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for MRPS14

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MRPS14: view

No data available for Genatlas for MRPS14 Gene

Publications for MRPS14 Gene

  1. A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. (PMID: 30358850) Jackson CB … Schaller A (Human molecular genetics 2019) 3 4 72
  2. Ribosome. The structure of the human mitochondrial ribosome. (PMID: 25838379) Amunts A … Ramakrishnan V (Science (New York, N.Y.) 2015) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for MRPS14 Gene

Sources for MRPS14 Gene