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Aliases for MRPL23 Gene

Aliases for MRPL23 Gene

  • Mitochondrial Ribosomal Protein L23 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL23m 3 4
  • L23 Mitochondrial-Related Protein 3 4
  • MRP-L23 3 4
  • RPL23L 3 4
  • L23MRP 3 4
  • L23mt 3 4
  • Ribosomal Protein Related To L23 (Mitochondrial) 3
  • 39S Ribosomal Protein L23, Mitochondrial 3
  • Ribosomal Protein L23-Like 4
  • RPL23 3

External Ids for MRPL23 Gene

Previous HGNC Symbols for MRPL23 Gene

  • RPL23L

Previous GeneCards Identifiers for MRPL23 Gene

  • GC11P000628
  • GC11P002056
  • GC11P001927
  • GC11P001932
  • GC11P001897
  • GC11P001925
  • GC11P001961
  • GC11P001763
  • GC11P001971

Summaries for MRPL23 Gene

Entrez Gene Summary for MRPL23 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. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL23 Gene

MRPL23 (Mitochondrial Ribosomal Protein L23) is a Protein Coding gene. Diseases associated with MRPL23 include Beckwith-Wiedemann Syndrome and Wilson-Turner X-Linked Mental Retardation Syndrome. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include RNA binding and structural constituent of ribosome. An important paralog of this gene is LOC107987373.

Gene Wiki entry for MRPL23 Gene

Additional gene information for MRPL23 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL23 Gene

Genomics for MRPL23 Gene

GeneHancer (GH) Regulatory Elements for MRPL23 Gene

Promoters and enhancers for MRPL23 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
GH11I001946 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 550.4 +5.6 5566 13.2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF207 ZNF143 MRPL23 MRPL23-AS1 GC11P001949 GC11P001973
GH11I001896 Enhancer 0.7 Ensembl ENCODE 13 -50.0 -49971 1.4 RNF2 BMI1 ATF2 RUNX3 LINC01150 TNNT3 MRPL23 MRPL23-AS1 GC11P001831
GH11I001903 Enhancer 0.5 ENCODE dbSUPER 14.9 -43.5 -43463 0.9 NR2F2 MRPL23 LINC01150 TNNT3 GC11P001831
GH11I001962 Enhancer 2 VISTA FANTOM5 Ensembl ENCODE dbSUPER 0.3 +20.3 20319 10.2 HDGF PKNOX1 ZFP64 ARID4B DMAP1 ZNF48 ZNF121 GLIS2 SP5 MIER2 MRPL23-AS1 IGF2 TH TNNI2 TNNT3 TSSC4 SYT8 GC11P001973 GC11P001949 MRPL23
GH11I001943 Enhancer 0.7 Ensembl dbSUPER 0.8 -3.2 -3249 0.8 ZNF148 HIC1 NFIC ZNF24 MRPL23 TNNT3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPL23 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL23 gene promoter:

Genomic Locations for MRPL23 Gene

Genomic Locations for MRPL23 Gene
chr11:1,947,272-2,014,017
(GRCh38/hg38)
Size:
66,746 bases
Orientation:
Plus strand
chr11:1,968,502-2,005,752
(GRCh37/hg19)

Genomic View for MRPL23 Gene

Genes around MRPL23 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL23 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL23 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL23 Gene

Proteins for MRPL23 Gene

  • Protein details for MRPL23 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16540-RM23_HUMAN
    Recommended name:
    39S ribosomal protein L23, mitochondrial
    Protein Accession:
    Q16540
    Secondary Accessions:
    • A8MT29
    • Q96Q71

    Protein attributes for MRPL23 Gene

    Size:
    153 amino acids
    Molecular mass:
    17781 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU). 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.

    Three dimensional structures from OCA and Proteopedia for MRPL23 Gene

neXtProt entry for MRPL23 Gene

Post-translational modifications for MRPL23 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MRPL23 Gene

Domains & Families for MRPL23 Gene

Gene Families for MRPL23 Gene

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

Protein Domains for MRPL23 Gene

Suggested Antigen Peptide Sequences for MRPL23 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q16540

UniProtKB/Swiss-Prot:

RM23_HUMAN :
  • Belongs to the universal ribosomal protein uL23 family.
Family:
  • Belongs to the universal ribosomal protein uL23 family.
genes like me logo Genes that share domains with MRPL23: view

Function for MRPL23 Gene

Phenotypes From GWAS Catalog for MRPL23 Gene

Gene Ontology (GO) - Molecular Function for MRPL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS 8541832
GO:0003735 structural constituent of ribosome IEA,IBA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL23: view
genes like me logo Genes that share phenotypes with MRPL23: view

Animal Model Products

CRISPR Products

miRNA for MRPL23 Gene

miRTarBase miRNAs that target MRPL23

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL23 Gene

Localization for MRPL23 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL23 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 MRPL23 gene
Compartment Confidence
mitochondrion 5
nucleus 5

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for MRPL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit TAS,IDA 25278503
genes like me logo Genes that share ontologies with MRPL23: view

Pathways & Interactions for MRPL23 Gene

genes like me logo Genes that share pathways with MRPL23: view

Gene Ontology (GO) - Biological Process for MRPL23 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA,TAS 8541832
GO:0032543 mitochondrial translation IBA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL23: view

No data available for SIGNOR curated interactions for MRPL23 Gene

Drugs & Compounds for MRPL23 Gene

No Compound Related Data Available

Transcripts for MRPL23 Gene

Unigene Clusters for MRPL23 Gene

Mitochondrial ribosomal protein L23:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL23 Gene

No ASD Table

Relevant External Links for MRPL23 Gene

GeneLoc Exon Structure for
MRPL23
ECgene alternative splicing isoforms for
MRPL23

Expression for MRPL23 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPL23 Gene

Protein differential expression in normal tissues from HIPED for MRPL23 Gene

This gene is overexpressed in Lung (28.9) and Pancreas (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MRPL23 Gene



Protein tissue co-expression partners for MRPL23 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL23 Gene:

MRPL23

SOURCE GeneReport for Unigene cluster for MRPL23 Gene:

Hs.3254
genes like me logo Genes that share expression patterns with MRPL23: view

Primer Products

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL23 Gene

Orthologs for MRPL23 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL23 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL23 33 34
  • 98.87 (n)
dog
(Canis familiaris)
Mammalia MRPL23 33 34
  • 83.77 (n)
mouse
(Mus musculus)
Mammalia Mrpl23 33 16 34
  • 80.46 (n)
cow
(Bos Taurus)
Mammalia MRPL23 33 34
  • 80 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl23 33
  • 79.45 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL23 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL23 33 34
  • 71.93 (n)
lizard
(Anolis carolinensis)
Reptilia MRPL23 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl23 33
  • 64.71 (n)
Str.11979 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6464 33
zebrafish
(Danio rerio)
Actinopterygii mrpl23 33 34
  • 61.44 (n)
Dr.11081 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9515 33
fruit fly
(Drosophila melanogaster)
Insecta mRpL23 33 34
  • 51.28 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta RM23_ANOGA 33
  • 48.38 (n)
worm
(Caenorhabditis elegans)
Secernentea mrpl-23 34
  • 33 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
OneToOne
Species where no ortholog for MRPL23 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 MRPL23 Gene

ENSEMBL:
Gene Tree for MRPL23 (if available)
TreeFam:
Gene Tree for MRPL23 (if available)

Paralogs for MRPL23 Gene

Paralogs for MRPL23 Gene

Pseudogenes.org Pseudogenes for MRPL23 Gene

genes like me logo Genes that share paralogs with MRPL23: view

Variants for MRPL23 Gene

Sequence variations from dbSNP and Humsavar for MRPL23 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs431825163 not-provided, Beckwith-Wiedemann syndrome 2,001,815(+) G/A genic_downstream_transcript_variant, intron_variant
rs431825164 not-provided, Beckwith-Wiedemann syndrome 2,001,083(+) G/A genic_downstream_transcript_variant, intron_variant
rs431825165 not-provided, Beckwith-Wiedemann syndrome 2,001,763(+) TTAGCATCTCAAGCTCCTAAATTAGCATCTCAA/TTAGCATCTCAA genic_downstream_transcript_variant, intron_variant
rs431825166 not-provided, Beckwith-Wiedemann syndrome 2,000,708(+) T/A genic_downstream_transcript_variant, intron_variant
rs431825167 not-provided, Beckwith-Wiedemann syndrome 2,000,108(+) C/A/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MRPL23 Gene

Variant ID Type Subtype PubMed ID
dgv1015n100 CNV gain 25217958
dgv1016n100 CNV gain 25217958
esv1010623 CNV deletion 20482838
esv1696864 CNV deletion 17803354
esv2041292 CNV deletion 18987734
esv2677244 CNV deletion 23128226
esv2743985 CNV deletion 23290073
esv2743987 CNV deletion 23290073
esv29980 CNV loss 17803354
esv3579243 CNV loss 25503493
nsv1047474 CNV gain 25217958
nsv1069998 CNV deletion 25765185
nsv1121471 CNV deletion 24896259
nsv1124546 CNV deletion 24896259
nsv1130654 CNV deletion 24896259
nsv1149802 CNV deletion 26484159
nsv1153324 CNV deletion 26484159
nsv467645 CNV gain 19166990
nsv469926 CNV loss 18288195
nsv516622 CNV loss 19592680
nsv522320 CNV loss 19592680
nsv553047 CNV gain 21841781
nsv553063 CNV loss 21841781
nsv553064 CNV loss 21841781
nsv62 OTHER inversion 15895083
nsv7213 OTHER inversion 18451855
nsv825703 CNV gain 20364138
nsv951283 CNV deletion 24416366

Variation tolerance for MRPL23 Gene

Residual Variation Intolerance Score: 84.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.68; 82.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL23 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL23

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL23 Gene

Disorders for MRPL23 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPL23 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL23

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MRPL23: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL23 Gene

Publications for MRPL23 Gene

  1. A novel L23-related gene 40 kb downstream of the imprinted H19 gene is biallelically expressed in mid-fetal and adult human tissues. (PMID: 8541832) Tsang P … Selleri L (Human molecular genetics 1995) 2 3 4 22 58
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 58
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  4. Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. (PMID: 19304784) Song H … Ovarian Cancer Association Consortium (OCAC) (Human molecular genetics 2009) 3 44 58
  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 58

Products for MRPL23 Gene

Sources for MRPL23 Gene

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