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 MRPL47 Gene

Aliases for MRPL47 Gene

  • Mitochondrial Ribosomal Protein L47 2 3 5
  • NCM1 2 3 4
  • Nasopharyngeal Carcinoma Metastasis-Related Protein 1 3 4
  • Mitochondrial Large Ribosomal Subunit Protein UL29m 3 4
  • Nasopharyngeal Carcinoma Metastasis-Related 1 2 3
  • 39S Ribosomal Protein L47, Mitochondrial 3 4
  • CGI-204 2 3
  • MRP-L47 3 4
  • L47mt 3 4
  • MRPL47 5

External Ids for MRPL47 Gene

Previous GeneCards Identifiers for MRPL47 Gene

  • GC03M176055
  • GC03M180148
  • GC03M180708
  • GC03M180627
  • GC03M180788
  • GC03M179306
  • GC03M176710

Summaries for MRPL47 Gene

Entrez Gene Summary for MRPL47 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. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL47 Gene

MRPL47 (Mitochondrial Ribosomal Protein L47) is a Protein Coding gene. Diseases associated with MRPL47 include Large Congenital Melanocytic Nevus and Mosaic Variegated Aneuploidy Syndrome. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL47 Gene

Genomics for MRPL47 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL47 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
GH03J179603 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 257 +0.0 48 3.2 BCLAF1 SP1 ZNF600 MYC SIX5 POLR2A YY1 MXD4 CTCF SMAD5 NDUFB5 MRPL47 ENSG00000288698 TTC14 USP13 MFN1 HSALNG0030980 lnc-ACTL6A-2 ACTL6A
GH03J179612 Enhancer 1 Ensembl ENCODE 6.8 -10.0 -9952 3.6 IKZF1 NCOR1 JUND ZNF592 NFIC CEBPB REST MBD2 ARNT NBN ENSG00000239096 HSALNG0030980 USP13 ZMAT3 NDUFB5 MRPL47 ENSG00000288698
GH03J179608 Enhancer 0.6 ENCODE 7 -4.5 -4452 1.2 ZFP91 SPI1 BATF ELF1 ZBTB33 NFATC1 KDM1A MTA2 RUNX3 CBFA2T3 USP13 MRPL47 NDUFB5 ENSG00000288698 ENSG00000239096 HSALNG0030980
GH03J179544 Enhancer 0.5 Ensembl ENCODE 5.4 +59.4 59424 1.7 FOS CEBPB HSALNG0030973 ENSG00000239255 GNB4 NDUFB5 MRPL47 ACTL6A HSALNG0030972
GH03J179630 Enhancer 0.3 Ensembl 6.7 -26.6 -26552 0.4 SPI1 PRDM1 lnc-USP13-3 USP13 MRPL47 lnc-USP13-5 ENSG00000288698
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL47 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL47

Top Transcription factor binding sites by QIAGEN in the MRPL47 gene promoter:
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GR
  • GR-alpha
  • GR-beta
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b

Genomic Locations for MRPL47 Gene

Latest Assembly
chr3:179,588,285-179,604,649
(GRCh38/hg38)
Size:
16,365 bases
Orientation:
Minus strand

Previous Assembly
chr3:179,306,073-179,322,434
(GRCh37/hg19 by Entrez Gene)
Size:
16,362 bases
Orientation:
Minus strand

chr3:179,306,073-179,322,442
(GRCh37/hg19 by Ensembl)
Size:
16,370 bases
Orientation:
Minus strand

Genomic View for MRPL47 Gene

Genes around MRPL47 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL47 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL47 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL47 Gene

Proteins for MRPL47 Gene

  • Protein details for MRPL47 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD33-RM47_HUMAN
    Recommended name:
    39S ribosomal protein L47, mitochondrial
    Protein Accession:
    Q9HD33
    Secondary Accessions:
    • Q6XRG1
    • Q8N5D1

    Protein attributes for MRPL47 Gene

    Size:
    250 amino acids
    Molecular mass:
    29450 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.
    SequenceCaution:
    • Sequence=AAG01157.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. Seems to include a portion of the orthologous murine sequence.; Evidence={ECO:0000305}; Sequence=AAO92749.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL47 Gene

    Alternative splice isoforms for MRPL47 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL47 Gene

Post-translational modifications for MRPL47 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL47 Gene

No data available for DME Specific Peptides for MRPL47 Gene

Domains & Families for MRPL47 Gene

Gene Families for MRPL47 Gene

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

Protein Domains for MRPL47 Gene

InterPro:
Blocks:
  • Mitochondrial 39-S ribosomal L47

Suggested Antigen Peptide Sequences for MRPL47 Gene

GenScript: Design optimal peptide antigens:
  • Nasopharyngeal carcinoma metastasis-related protein 1 (RM47_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HD33

UniProtKB/Swiss-Prot:

RM47_HUMAN :
  • Belongs to the universal ribosomal protein uL29 family.
Family:
  • Belongs to the universal ribosomal protein uL29 family.
genes like me logo Genes that share domains with MRPL47: view

Function for MRPL47 Gene

Gene Ontology (GO) - Molecular Function for MRPL47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003735 structural constituent of ribosome IEA,IBA 21873635
GO:0005515 protein binding IPI 29568061
genes like me logo Genes that share ontologies with MRPL47: view
genes like me logo Genes that share phenotypes with MRPL47: view

Animal Models for MRPL47 Gene

MGI Knock Outs for MRPL47:
  • Mrpl47 Mrpl47<tm1.1(KOMP)Vlcg>

miRNA for MRPL47 Gene

miRTarBase miRNAs that target MRPL47

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL47

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MRPL47 Gene

Localization for MRPL47 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL47 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 MRPL47 gene
Compartment Confidence
mitochondrion 5
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IEA --
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL47: view

Pathways & Interactions for MRPL47 Gene

genes like me logo Genes that share pathways with MRPL47: view

Gene Ontology (GO) - Biological Process for MRPL47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0008150 biological_process ND --
GO:0032543 mitochondrial translation IBA 21873635
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL47: view

No data available for SIGNOR curated interactions for MRPL47 Gene

Drugs & Compounds for MRPL47 Gene

No Compound Related Data Available

Transcripts for MRPL47 Gene

mRNA/cDNA for MRPL47 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL47

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL47 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1: -
SP2:
SP3: - -

Relevant External Links for MRPL47 Gene

GeneLoc Exon Structure for
MRPL47

Expression for MRPL47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL47 Gene

Protein differential expression in normal tissues from HIPED for MRPL47 Gene

This gene is overexpressed in Pancreas (10.6), Liver (9.6), and Peripheral blood mononuclear cells (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL47 Gene



Protein tissue co-expression partners for MRPL47 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL47

SOURCE GeneReport for Unigene cluster for MRPL47 Gene:

Hs.283734

Evidence on tissue expression from TISSUES for MRPL47 Gene

  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with MRPL47: view

Primer products for research

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 MRPL47 Gene

Orthologs for MRPL47 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL47 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL47 29 30
  • 99.6 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL47 29 30
  • 87.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL47 29 30
  • 85.75 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl47 29 16 30
  • 80.8 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl47 29
  • 79.73 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL47 30
  • 70 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL47 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL47 29 30
  • 60.32 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL47 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl47 29
  • 60.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5541 29
Zebrafish
(Danio rerio)
Actinopterygii LOC557789 29
  • 63.44 (n)
mrpl47 30
  • 50 (a)
OneToOne
idibd1090 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002218 29
  • 47.73 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL47 29
  • 45.81 (n)
Rlc1 30
  • 30 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mrpl-47 30
  • 29 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.134 30
  • 43 (a)
OneToOne
Species where no ortholog for MRPL47 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • 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 MRPL47 Gene

ENSEMBL:
Gene Tree for MRPL47 (if available)
TreeFam:
Gene Tree for MRPL47 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL47: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL47

Paralogs for MRPL47 Gene

No data available for Paralogs for MRPL47 Gene

Variants for MRPL47 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL47 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
rs10513762 -- p.Arg213His
rs2339844 -- p.Cys10Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL47 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Variation tolerance for MRPL47 Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.20; 76.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL47
Leiden Open Variation Database (LOVD)
MRPL47

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MRPL47 Gene

Disorders for MRPL47 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPL47 Gene - From: COP

Disorder Aliases PubMed IDs
large congenital melanocytic nevus
  • congenital pigmented nevus
mosaic variegated aneuploidy syndrome
  • mva syndrome
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL47

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MRPL47: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL47 Gene

Publications for MRPL47 Gene

  1. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PMID: 11551941) Koc EC … Spremulli LL (The Journal of biological chemistry 2001) 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 40
  5. Wnt regulation: exploring Axin-Disheveled interactions and defining mechanisms by which the SCF E3 ubiquitin ligase is recruited to the destruction complex. (PMID: 32129710) Schaefer KN … Peifer M (Molecular biology of the cell 2020) 3

Products for MRPL47 Gene

Sources for MRPL47 Gene