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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
  • Up-Regulated In Metastasis 3 4
  • MRP-L40 3 4
  • NLVCF 3 4
  • L40mt 3 4
  • URIM 3 4
  • Nuclear Localization Signal Deleted In Velocardiofacial Syndrome 2
  • MRP-L22 3
  • MRPL22 3

External Ids for MRPL40 Gene

Previous HGNC Symbols for MRPL40 Gene

  • NLVCF

Previous GeneCards Identifiers for MRPL40 Gene

  • GC22U990205
  • GC22P016361
  • GC22P017794
  • GC22P017793
  • 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 mrpl40-related disorder and velocardiofacial syndrome. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding.

Gene Wiki entry for MRPL40 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL40 Gene

Genomics for MRPL40 Gene

Regulatory Elements for MRPL40 Gene

Enhancers for MRPL40 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MRPL40 on UCSC Golden Path with GeneCards custom track

Genomic Location for MRPL40 Gene

Chromosome:
22
Start:
19,431,902 bp from pter
End:
19,436,077 bp from pter
Size:
4,176 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:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MRPL40 Gene

neXtProt entry for MRPL40 Gene

Proteomics data for MRPL40 Gene at MOPED

Post-translational modifications for MRPL40 Gene

  • Ubiquitination at Lys 77
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL40 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MRPL40 Gene

Domains & Families for MRPL40 Gene

Gene Families for MRPL40 Gene

Protein Domains for MRPL40 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

Function for MRPL40 Gene

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

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for MRPL40 Gene COMPARTMENTS Subcellular localization image for MRPL40 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
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:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0070124 mitochondrial translational initiation 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

Unigene Clusters for MRPL40 Gene

Mitochondrial ribosomal protein L40:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MRPL40

Expression for MRPL40 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MRPL40 Gene



SOURCE GeneReport for Unigene cluster for MRPL40 Gene Hs.431307

mRNA Expression by UniProt/SwissProt for MRPL40 Gene

Q9NQ50-RM40_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with MRPL40: view

Protein tissue co-expression partners for MRPL40 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
dog
(Canis familiaris)
Mammalia MRPL40 35
  • 82.2 (n)
  • 77.18 (a)
mouse
(Mus musculus)
Mammalia Mrpl40 35
  • 80.26 (n)
  • 75.24 (a)
Mrpl40 16
Mrpl40 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MRPL40 35
  • 99.19 (n)
  • 98.06 (a)
MRPL40 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl40 35
  • 80.42 (n)
  • 76.21 (a)
cow
(Bos Taurus)
Mammalia MRPL40 36
  • 73 (a)
OneToOne
MRPL40 35
  • 78.18 (n)
  • 75.26 (a)
oppossum
(Monodelphis domestica)
Mammalia MRPL40 36
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL40 35
  • 66.9 (n)
  • 64.29 (a)
MRPL40 36
  • 54 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia aca-mir-5408a 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl40 35
  • 60.31 (n)
  • 57.23 (a)
zebrafish
(Danio rerio)
Actinopterygii mrpl40 35
  • 55.5 (n)
  • 46 (a)
mrpl40 36
  • 46 (a)
OneToOne
wufj54c06 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000110 35
  • 49.52 (n)
  • 40.57 (a)
fruit fly
(Drosophila melanogaster)
Insecta mRpL40 35
  • 53.12 (n)
  • 40.62 (a)
mRpL40 36
  • 36 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-40 36
  • 30 (a)
OneToOne
mrpl-40 35
  • 48.77 (n)
  • 30.88 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToOne
Species with no ortholog for MRPL40:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for MRPL40 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs7575 - 19,435,727(+) AGAGC(A/G)TAAGA reference, missense
VAR_061809 -
rs8137606 -- 19,435,443(+) TTCTT(C/T)TGACA intron-variant
rs8141130 -- 19,435,725(+) CAAGA(A/G)CGTAA reference, synonymous-codon
rs34913151 -- 19,434,272(+) GCTGG(-/G)AGTGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv435744 CNV Deletion 17901297
nsv914263 CNV Gain 21882294
nsv834124 CNV Loss 17160897
nsv834127 CNV Loss 17160897
dgv4839n71 CNV Loss 21882294
dgv4840n71 CNV Loss 21882294
esv2751940 CNV Gain 17911159

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)

Relevant External Links for MRPL40 Gene

HapMap Linkage Disequilibrium report
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: GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mrpl40-related disorder
  • nuclear localization signal deleted in velocardiofacial syndrome, nlvcf
velocardiofacial syndrome
  • cayler cardiofacial syndrome
digeorge syndrome
  • digeorge sequence
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MRPL40

Genetic Association Database (GAD)
MRPL40
Human Genome Epidemiology (HuGE) Navigator
MRPL40
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPL40
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 67
  2. 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
  3. BioID-based Identification of Skp Cullin F-box (SCF)I^-TrCP1/2 E3 Ligase Substrates. (PMID: 25900982) Coyaud E. … Raught B. (Mol. Cell Proteomics 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for MRPL40 Gene

Sources for MRPL40 Gene

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