Free for academic non-profit institutions. Other users need a Commercial license

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
  • 39S Ribosomal Protein L40, Mitochondrial 3
  • MRP-L22 3
  • MRPL22 3

External Ids for MRPL40 Gene

Previous HGNC Symbols for MRPL40 Gene


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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22F019463 0.2 ENCODE 11.6 +32.1 32120 1.8 SMARCE1 GTF2E2 NR4A1 JUN TSC22D4 NFXL1 POLR2H MBD2 ZNF121 GATA3 UFD1L E2F6P1 MRPL40 CLTCL1 ENSG00000273300 DGCR8 TSSK2 TSSK1A DGCR2 ENSG00000223461
GH22F019429 0.5 ENCODE 9.3 -0.1 -129 4.7 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC RPL7AP70 DGCR8 UFD1L LINC01311 ENSG00000273300 DGCR11 C22orf29 E2F6P1 CLTCL1 RPL8P5
GH22F019418 1.6 FANTOM5 Ensembl ENCODE 0.4 -10.6 -10595 6.6 HDGF PKNOX1 CREB3L1 ARNT FEZF1 ZNF766 KLF13 ZNF263 NFYC TBX21 UFD1L RPL7AP70 RPL8P5 ENSG00000273300 E2F6P1 CDC45 TBX1 CLTCL1 HIRA MRPL40
GH22F019396 0.4 ENCODE 0.3 -34.2 -34218 2.1 HDGF ATF1 PKNOX1 ARNT CREB3L1 SIN3A YY1 CBX5 ELK1 GATA2 UFD1L E2F6P1 HIRA LOC105372860 C22orf39 TBX1 CLTCL1 MRPL40 RN7SL168P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MRPL40 on UCSC Golden Path with GeneCards custom track

Promoters for MRPL40 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001405064 -102 3201 CREB3L1 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC

Genomic Location for MRPL40 Gene

19,431,902 bp from pter
19,436,077 bp from pter
4,176 bases
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:
    Recommended name:
    39S ribosomal protein L40, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B3KVZ7
    • O95134

    Protein attributes for MRPL40 Gene

    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

Post-translational modifications for MRPL40 Gene

  • Ubiquitination at Lys 77
  • 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

Protein Domains for MRPL40 Gene


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

Gene Ontology (GO) - Molecular Function for MRPL40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0044822 poly(A) RNA binding IDA 22681889
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

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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


Subcellular locations from

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:0005634 nucleus TAS 9790763
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IDA --
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

Transcripts for MRPL40 Gene

Unigene Clusters for MRPL40 Gene

Mitochondrial ribosomal protein L40:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

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

Relevant External Links for MRPL40 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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, MaxQB, and MOPED for MRPL40 Gene

Protein tissue co-expression partners for MRPL40 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL40 Gene:


SOURCE GeneReport for Unigene cluster for MRPL40 Gene:


mRNA Expression by UniProt/SwissProt for MRPL40 Gene:

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

Primer 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
(Pan troglodytes)
Mammalia MRPL40 34 35
  • 99.19 (n)
(Canis familiaris)
Mammalia MRPL40 34
  • 82.2 (n)
(Rattus norvegicus)
Mammalia Mrpl40 34
  • 80.42 (n)
(Mus musculus)
Mammalia Mrpl40 34 16 35
  • 80.26 (n)
(Bos Taurus)
Mammalia MRPL40 34 35
  • 78.18 (n)
(Monodelphis domestica)
Mammalia MRPL40 35
  • 62 (a)
(Gallus gallus)
Aves MRPL40 34 35
  • 66.9 (n)
(Anolis carolinensis)
Reptilia aca-mir-5408a 35
  • 52 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl40 34
  • 60.31 (n)
(Danio rerio)
Actinopterygii mrpl40 34 35
  • 55.5 (n)
wufj54c06 34
fruit fly
(Drosophila melanogaster)
Insecta mRpL40 34 35
  • 53.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000110 34
  • 49.52 (n)
(Caenorhabditis elegans)
Secernentea mrpl-40 34 35
  • 48.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
Species where no ortholog for MRPL40 was found in the sources mined by GeneCards:
  • 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

Gene Tree for MRPL40 (if available)
Gene Tree for MRPL40 (if available)

Paralogs for MRPL40 Gene 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
rs111802956 -- 19,432,154(+) ATTAG(A/G)AGATC upstream-variant-2KB, utr-variant-5-prime
rs111805717 -- 19,431,349(+) GGGGC(A/G)AGACA intron-variant, upstream-variant-2KB
rs112137683 -- 19,435,687(+) GAGCT(C/G)TGCTT reference, missense
rs1128399 -- 19,432,586(+) CTCGC(C/T)AGCCC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs113315821 -- 19,435,892(+) CCCTA(A/C)CTACC reference, missense

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)

Relevant External Links for MRPL40 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MRPL40 Gene

MalaCards: The human disease database

(2) 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
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MRPL40

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 64
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MRPL40 Gene

Sources for MRPL40 Gene

Loading form....