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 MRPL39 Gene

Aliases for MRPL39 Gene

  • Mitochondrial Ribosomal Protein L39 2 3 5
  • C21orf92 2 3 4
  • MRP-L5 2 3 4
  • L39mt 2 3 4
  • RPML5 2 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ML39 3 4
  • 39S Ribosomal Protein L39, Mitochondrial 3 4
  • 39S Ribosomal Protein L5, Mitochondrial 3 4
  • MSTP003 2 3
  • PRED22 2 3
  • PRED66 2 3
  • MRPL5 3 4
  • L5mt 3 4
  • MGC104174 2
  • FLJ20451 2
  • MGC3400 2
  • MRP-L39 4
  • MRPL39 5

External Ids for MRPL39 Gene

Previous GeneCards Identifiers for MRPL39 Gene

  • GC21M023536
  • GC21M025879
  • GC21M026957
  • GC21M012361

Summaries for MRPL39 Gene

Entrez Gene Summary for MRPL39 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 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL39 Gene

MRPL39 (Mitochondrial Ribosomal Protein L39) is a Protein Coding gene. Diseases associated with MRPL39 include Properdin Deficiency, X-Linked. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include nucleotide binding. An important paralog of this gene is TARS1.

Gene Wiki entry for MRPL39 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL39 Gene

Genomics for MRPL39 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL39 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J025606 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 278 +0.3 258 2.8 BCLAF1 SP1 ZNF654 ZNF207 NCOR1 MYC ZNF600 SIX5 SSRP1 ZNF580 MRPL39 JAM2 GABPA lnc-JAM2-1
GH21J026021 Promoter 0.4 EPDnew 250 -414.1 -414100 0.1 ZNF513 MRPL39 lnc-ATP5PF-2 lnc-GABPA-12 APP ATP5PF lnc-JAM2-1
GH21J025638 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 32.5 -32.0 -32021 3 BCLAF1 ZNF600 ZNF223 ZIC2 ZBTB10 ZNF341 ZNF513 KLF9 SP2 SMC3 JAM2 MRPL39 GABPA ATP5PF lnc-GABPA-10 piR-61101-438 lnc-JAM2-1
GH21J025561 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.5 +45.0 44957 4.2 BCLAF1 SP1 ZNF207 POLR2A BCL11A TARDBP TRIM22 CTCF IRF4 EBF1 EU375836 HSALNG0132380 MIR155HG JAM2 MRPL39 ENSG00000229962 MIR155 lnc-MRPL39-15 lnc-MRPL39-2
GH21J025570 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 27.5 +34.6 34629 4.8 BCLAF1 JUND POLR2A BCL11A TRIM22 ZNF639 IRF4 EBF1 CBFB MAX lnc-MRPL39-2 MRPL39 lnc-JAM2-1 MIR155 MIR155HG EU375836 JAM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL39 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL39

Genomic Locations for MRPL39 Gene

Latest Assembly
chr21:25,585,656-25,607,858
(GRCh38/hg38)
Size:
22,203 bases
Orientation:
Minus strand

Previous Assembly
chr21:26,957,968-26,979,793
(GRCh37/hg19 by Entrez Gene)
Size:
21,826 bases
Orientation:
Minus strand

chr21:26,957,968-26,979,829
(GRCh37/hg19 by Ensembl)
Size:
21,862 bases
Orientation:
Minus strand

Genomic View for MRPL39 Gene

Genes around MRPL39 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL39 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL39 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL39 Gene

Proteins for MRPL39 Gene

  • Protein details for MRPL39 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYK5-RM39_HUMAN
    Recommended name:
    39S ribosomal protein L39, mitochondrial
    Protein Accession:
    Q9NYK5
    Secondary Accessions:
    • C9JYA5
    • Q32Q74
    • Q5QTR3
    • Q96Q65
    • Q9BSQ7
    • Q9BZV6
    • Q9NX44

    Protein attributes for MRPL39 Gene

    Size:
    338 amino acids
    Molecular mass:
    38712 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:28892042, PubMed:25838379, PubMed:25278503). 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.
    SequenceCaution:
    • Sequence=AAF44696.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAQ13505.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA91177.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL39 Gene

    Alternative splice isoforms for MRPL39 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL39 Gene

Post-translational modifications for MRPL39 Gene

  • Ubiquitination at Lys315
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL39 Gene

Antibodies for research

  • Abcam antibodies for MRPL39

No data available for DME Specific Peptides for MRPL39 Gene

Domains & Families for MRPL39 Gene

Gene Families for MRPL39 Gene

Protein Domains for MRPL39 Gene

Suggested Antigen Peptide Sequences for MRPL39 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L5, mitochondrial (RM39_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYK5

UniProtKB/Swiss-Prot:

RM39_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL39 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL39 family.
genes like me logo Genes that share domains with MRPL39: view

Function for MRPL39 Gene

Phenotypes From GWAS Catalog for MRPL39 Gene

Gene Ontology (GO) - Molecular Function for MRPL39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
genes like me logo Genes that share ontologies with MRPL39: view
genes like me logo Genes that share phenotypes with MRPL39: view

miRNA for MRPL39 Gene

miRTarBase miRNAs that target MRPL39

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL39

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL39 Gene

Localization for MRPL39 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL39 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 MRPL39 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
extracellular 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 11167009
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL39: view

Pathways & Interactions for MRPL39 Gene

genes like me logo Genes that share pathways with MRPL39: view

Gene Ontology (GO) - Biological Process for MRPL39 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL39: view

No data available for SIGNOR curated interactions for MRPL39 Gene

Drugs & Compounds for MRPL39 Gene

No Compound Related Data Available

Transcripts for MRPL39 Gene

mRNA/cDNA for MRPL39 Gene

2 REFSEQ mRNAs :
11 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 MRPL39

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL39 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
SP1:
SP2: -
SP3: -

Relevant External Links for MRPL39 Gene

GeneLoc Exon Structure for
MRPL39

Expression for MRPL39 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL39 Gene

Protein differential expression in normal tissues from HIPED for MRPL39 Gene

This gene is overexpressed in Breast (37.0) and Peripheral blood mononuclear cells (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL39 Gene



Protein tissue co-expression partners for MRPL39 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL39

SOURCE GeneReport for Unigene cluster for MRPL39 Gene:

Hs.420696

mRNA Expression by UniProt/SwissProt for MRPL39 Gene:

Q9NYK5-RM39_HUMAN
Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is heart-specific.

Evidence on tissue expression from TISSUES for MRPL39 Gene

  • Heart(4.4)
  • Muscle(4.4)
genes like me logo Genes that share expression patterns with MRPL39: 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 and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL39 Gene

Orthologs for MRPL39 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MRPL39 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL39 29 30
  • 98.87 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL39 29 30
  • 89.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL39 29 30
  • 88.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl39 29 16 30
  • 84.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl39 29
  • 81.25 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL39 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL39 29 30
  • 71.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL39 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl39 29
  • 66.44 (n)
Str.11934 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.16628 29
Zebrafish
(Danio rerio)
Actinopterygii mrpl39 29 30
  • 54.15 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL39 29 30
  • 48.8 (n)
OneToOne
mRpL5 31
  • 39 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010644 29
  • 46.19 (n)
Worm
(Caenorhabditis elegans)
Secernentea tars-1 30
  • 9 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THS1 30
  • 9 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 26 (a)
OneToOne
Species where no ortholog for MRPL39 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 MRPL39 Gene

ENSEMBL:
Gene Tree for MRPL39 (if available)
TreeFam:
Gene Tree for MRPL39 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL39: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL39

Paralogs for MRPL39 Gene

Paralogs for MRPL39 Gene

Pseudogenes.org Pseudogenes for MRPL39 Gene

genes like me logo Genes that share paralogs with MRPL39: view

Variants for MRPL39 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL39 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
769210 Benign: not provided 25,606,638(-) A/.
NM_017446.4(MRPL39):c.91= (p.Ser31=)
NO_SEQUENCE_ALTERATION
rs3989369 -- p.Ser31Pro

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL39 Gene

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

Structural Variations from Database of Genomic Variants (DGV) for MRPL39 Gene

Variant ID Type Subtype PubMed ID
nsv510501 OTHER sequence alteration 20534489

Variation tolerance for MRPL39 Gene

Residual Variation Intolerance Score: 73.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL39 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL39
Leiden Open Variation Database (LOVD)
MRPL39

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL39 Gene

Disorders for MRPL39 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPL39 Gene - From: COP

Disorder Aliases PubMed IDs
properdin deficiency, x-linked
  • cfpd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL39

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 MRPL39: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL39 Gene

Publications for MRPL39 Gene

  1. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PMID: 11543634) Kenmochi N … Tanaka T (Genomics 2001) 2 3 4
  2. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  3. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MRPL39 Gene

Sources for MRPL39 Gene