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 MRPL4 Gene

Aliases for MRPL4 Gene

  • Mitochondrial Ribosomal Protein L4 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL4m 3 4
  • 39S Ribosomal Protein L4, Mitochondrial 3 4
  • CGI-28 2 3
  • MRP-L4 3 4
  • L4mt 3 4
  • MRPL4 5

External Ids for MRPL4 Gene

Previous GeneCards Identifiers for MRPL4 Gene

  • GC19P010484
  • GC19P010585
  • GC19P010207
  • GC19P010223
  • GC19P010362
  • GC19P009942

Summaries for MRPL4 Gene

Entrez Gene Summary for MRPL4 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. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL4 Gene

MRPL4 (Mitochondrial Ribosomal Protein L4) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPL4 Gene

Additional gene information for MRPL4 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL4 Gene

Genomics for MRPL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL4 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 MRPL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL4

Top Transcription factor binding sites by QIAGEN in the MRPL4 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • c-Myb
  • CREB
  • deltaCREB
  • RORalpha1

Genomic Locations for MRPL4 Gene

Genomic Locations for MRPL4 Gene
chr19:10,251,901-10,260,055
(GRCh38/hg38)
Size:
8,155 bases
Orientation:
Plus strand
chr19:10,362,577-10,370,736
(GRCh37/hg19)
Size:
8,160 bases
Orientation:
Plus strand

Genomic View for MRPL4 Gene

Genes around MRPL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL4 Gene

Proteins for MRPL4 Gene

  • Protein details for MRPL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYD3-RM04_HUMAN
    Recommended name:
    39S ribosomal protein L4, mitochondrial
    Protein Accession:
    Q9BYD3
    Secondary Accessions:
    • A6NNV7
    • Q9BW07
    • Q9H4N2
    • Q9Y317

    Protein attributes for MRPL4 Gene

    Size:
    311 amino acids
    Molecular mass:
    34919 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. Interacts with MIEF1 upstream open reading frame protein (PubMed:30215512).
    SequenceCaution:
    • Sequence=AAD27737.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAG02005.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL4 Gene

    Alternative splice isoforms for MRPL4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL4 Gene

Post-translational modifications for MRPL4 Gene

  • Ubiquitination at Lys131
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MRPL4 Gene

Domains & Families for MRPL4 Gene

Gene Families for MRPL4 Gene

Protein Domains for MRPL4 Gene

Suggested Antigen Peptide Sequences for MRPL4 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L4, mitochondrial (RM04_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BYD3

UniProtKB/Swiss-Prot:

RM04_HUMAN :
  • Belongs to the universal ribosomal protein uL4 family.
Family:
  • Belongs to the universal ribosomal protein uL4 family.
genes like me logo Genes that share domains with MRPL4: view

Function for MRPL4 Gene

Phenotypes From GWAS Catalog for MRPL4 Gene

Gene Ontology (GO) - Molecular Function for MRPL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IBA 21873635
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL4: view
genes like me logo Genes that share phenotypes with MRPL4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL4 Gene

Localization for MRPL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL4 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 MRPL4 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MRPL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL4 Gene

Pathways & Interactions for MRPL4 Gene

genes like me logo Genes that share pathways with MRPL4: view

Gene Ontology (GO) - Biological Process for MRPL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL4: view

No data available for SIGNOR curated interactions for MRPL4 Gene

Drugs & Compounds for MRPL4 Gene

No Compound Related Data Available

Transcripts for MRPL4 Gene

mRNA/cDNA for MRPL4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL4

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL4 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - - - -
SP2: - - -
SP3: - -
SP4: - -
SP5: - -
SP6:

Relevant External Links for MRPL4 Gene

GeneLoc Exon Structure for
MRPL4

Expression for MRPL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL4 Gene

Protein differential expression in normal tissues from HIPED for MRPL4 Gene

This gene is overexpressed in Breast (27.0) and Lung (14.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL4 Gene



Protein tissue co-expression partners for MRPL4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL4

SOURCE GeneReport for Unigene cluster for MRPL4 Gene:

Hs.279652

Evidence on tissue expression from TISSUES for MRPL4 Gene

  • Lung(4.4)
  • Nervous system(2.9)
  • Skin(2.7)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with MRPL4: view

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 MRPL4 Gene

Orthologs for MRPL4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRPL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL4 30 31
  • 99.57 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL4 30 31
  • 84.58 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL4 30 31
  • 83.22 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl4 30
  • 80.61 (n)
Mouse
(Mus musculus)
Mammalia Mrpl4 30 17 31
  • 79.37 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL4 31
  • 78 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MRPL4 31
  • 72 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL4 31
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl4 30
  • 63.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgmrpl4 30 31
  • 64.73 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL4 30 31 32
  • 57.87 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007937 30
  • 56.29 (n)
Worm
(Caenorhabditis elegans)
Secernentea mrpl-4 30 31
  • 49.39 (n)
OneToOne
T23B12.2 32
  • 40 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YML6 33
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G20060 30
  • 44.27 (n)
Rice
(Oryza sativa)
Liliopsida Os11g0585700 30
  • 45.99 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2665 31
  • 34 (a)
OneToOne
Species where no ortholog for MRPL4 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)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MRPL4 Gene

ENSEMBL:
Gene Tree for MRPL4 (if available)
TreeFam:
Gene Tree for MRPL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL4: view image

Paralogs for MRPL4 Gene

No data available for Paralogs for MRPL4 Gene

Variants for MRPL4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs375741179 Benign: not specified 10,259,609(+) G/C THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs765019295 Benign: not specified 10,259,604(+) A/C THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MRPL4 Gene

Variation tolerance for MRPL4 Gene

Residual Variation Intolerance Score: 94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.28; 81.30% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MRPL4 Gene

Disorders for MRPL4 Gene

Additional Disease Information for MRPL4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for MRPL4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL4 Gene

Publications for MRPL4 Gene

  1. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. (PMID: 19773279) Hosgood HD … Lan Q (Occupational and environmental medicine 2009) 3 41
  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 MRPL4 Gene

Sources for MRPL4 Gene