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 MRPL40 Gene

Aliases for MRPL40 Gene

  • Mitochondrial Ribosomal Protein L40 2 3 5
  • Nuclear Localization Signal-Containing Protein Deleted In Velocardiofacial Syndrome 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ML40 3 4
  • 39S Ribosomal Protein L40, Mitochondrial 3 4
  • Up-Regulated In Metastasis 3 4
  • MRP-L22 2 3
  • MRP-L40 3 4
  • L40mt 3 4
  • NLVCF 3 4
  • URIM 3 4
  • Nuclear Localization Signal Deleted In Velocardiofacial Syndrome 2
  • MRPL22 3
  • MRPL40 5

External Ids for MRPL40 Gene

Previous HGNC Symbols for MRPL40 Gene

  • NLVCF

Previous GeneCards Identifiers for MRPL40 Gene

  • GC22U990205
  • GC22P016361
  • GC22P017794
  • GC22P017793
  • GC22P019419
  • GC22P003040

Summaries for MRPL40 Gene

Entrez Gene Summary for MRPL40 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. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL40 Gene

MRPL40 (Mitochondrial Ribosomal Protein L40) is a Protein Coding gene. Diseases associated with MRPL40 include Velocardiofacial Syndrome and Digeorge Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation.

Gene Wiki entry for MRPL40 Gene

Additional gene information for MRPL40 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL40 Gene

Genomics for MRPL40 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL40 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 MRPL40 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL40

Top Transcription factor binding sites by QIAGEN in the MRPL40 gene promoter:
  • AML1a
  • AREB6
  • E47
  • Ik-2
  • MAZR
  • TBP
  • USF-1
  • USF-1:USF-2
  • USF1
  • USF2

Genomic Locations for MRPL40 Gene

Genomic Locations for MRPL40 Gene
chr22:19,431,902-19,436,078
(GRCh38/hg38)
Size:
4,177 bases
Orientation:
Plus strand
chr22:19,419,425-19,423,598
(GRCh37/hg19)
Size:
4,174 bases
Orientation:
Plus strand

Genomic View for MRPL40 Gene

Genes around MRPL40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL40 Gene

Proteins for MRPL40 Gene

  • Protein details for MRPL40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ50-RM40_HUMAN
    Recommended name:
    39S ribosomal protein L40, mitochondrial
    Protein Accession:
    Q9NQ50
    Secondary Accessions:
    • B3KVZ7
    • O95134

    Protein attributes for MRPL40 Gene

    Size:
    206 amino acids
    Molecular mass:
    24490 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. mL40 binds to the major groove of the anticodon stem of mt-tRNA(Val) in the central protuberance.

    Three dimensional structures from OCA and Proteopedia for MRPL40 Gene

neXtProt entry for MRPL40 Gene

Post-translational modifications for MRPL40 Gene

  • Ubiquitination at Lys77
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL40 Gene

Domains & Families for MRPL40 Gene

Gene Families for MRPL40 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPL40 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL40 Gene

GenScript: Design optimal peptide antigens:
  • Up-regulated in metastasis (RM40_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NQ50

UniProtKB/Swiss-Prot:

RM40_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL40 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL40 family.
genes like me logo Genes that share domains with MRPL40: view

Function for MRPL40 Gene

Gene Ontology (GO) - Molecular Function for MRPL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL40: view
genes like me logo Genes that share phenotypes with MRPL40: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL40

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL40 Gene

Localization for MRPL40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL40 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 MRPL40 gene
Compartment Confidence
mitochondrion 5
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 9790763
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IEA,ISS --
genes like me logo Genes that share ontologies with MRPL40: view

Pathways & Interactions for MRPL40 Gene

genes like me logo Genes that share pathways with MRPL40: view

Gene Ontology (GO) - Biological Process for MRPL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009653 anatomical structure morphogenesis TAS 9790763
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL40: view

No data available for SIGNOR curated interactions for MRPL40 Gene

Drugs & Compounds for MRPL40 Gene

No Compound Related Data Available

Transcripts for MRPL40 Gene

mRNA/cDNA for MRPL40 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 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 MRPL40

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL40 Gene

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

Relevant External Links for MRPL40 Gene

GeneLoc Exon Structure for
MRPL40

Expression for MRPL40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL40 Gene

Protein differential expression in normal tissues from HIPED for MRPL40 Gene

This gene is overexpressed in Bone (18.8) and Pancreas (12.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL40 Gene



Protein tissue co-expression partners for MRPL40 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL40

SOURCE GeneReport for Unigene cluster for MRPL40 Gene:

Hs.431307

mRNA Expression by UniProt/SwissProt for MRPL40 Gene:

Q9NQ50-RM40_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MRPL40 Gene

  • Lung(4.3)
  • Nervous system(3)
  • Liver(2.7)
  • Heart(2.6)
  • Muscle(2.5)
  • Kidney(2.2)
  • Intestine(2)
  • Skin(2)
genes like me logo Genes that share expression patterns with MRPL40: view

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 MRPL40 Gene

Orthologs for MRPL40 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL40 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL40 30 31
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL40 30
  • 82.2 (n)
Rat
(Rattus norvegicus)
Mammalia Mrpl40 30
  • 80.42 (n)
Mouse
(Mus musculus)
Mammalia Mrpl40 30 17 31
  • 80.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL40 30 31
  • 78.18 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MRPL40 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL40 30 31
  • 66.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia aca-mir-5408a 31
  • 52 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl40 30
  • 60.31 (n)
Zebrafish
(Danio rerio)
Actinopterygii mrpl40 30 31
  • 55.5 (n)
OneToOne
wufj54c06 30
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL40 30 31
  • 53.12 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000110 30
  • 49.52 (n)
Worm
(Caenorhabditis elegans)
Secernentea mrpl-40 30 31
  • 48.77 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToOne
Species where no ortholog for MRPL40 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)
  • 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 MRPL40 Gene

ENSEMBL:
Gene Tree for MRPL40 (if available)
TreeFam:
Gene Tree for MRPL40 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL40: view image

Paralogs for MRPL40 Gene

Pseudogenes.org Pseudogenes for MRPL40 Gene

genes like me logo Genes that share paralogs with MRPL40: view

No data available for Paralogs for MRPL40 Gene

Variants for MRPL40 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL40 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs1128399 - p.Leu11Pro
rs7575 - p.Arg129His

Additional dbSNP identifiers (rs#s) for MRPL40 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL40 Gene

Variant ID Type Subtype PubMed ID
esv2751940 CNV gain 17911159
esv3575418 CNV gain 25503493
nsv588216 CNV gain 21841781
nsv834124 CNV loss 17160897
nsv834127 CNV loss 17160897

Variation tolerance for MRPL40 Gene

Residual Variation Intolerance Score: 67.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.87; 83.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL40 Gene

Disorders for MRPL40 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRPL40 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • digeorge syndrome
digeorge syndrome
  • cayler cardiofacial syndrome
chromosome 6q24-q25 deletion syndrome
  • chromosome 6q25-q25 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL40

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with MRPL40: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL40 Gene

Publications for MRPL40 Gene

  1. Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11. (PMID: 9790763) Funke B … Morrow B (Genomics 1998) 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 41
  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 MRPL40 Gene

  • Signalway Proteins for MRPL40

Sources for MRPL40 Gene