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Aliases for MRPL47 Gene

Aliases for MRPL47 Gene

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

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 Leber Optic Atrophy. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include structural constituent of ribosome.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL47 Gene

Genomics for MRPL47 Gene

Regulatory Elements for MRPL47 Gene

Enhancers for MRPL47 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
GH03G179603 1.1 ENCODE 7.1 +0.1 58 2.4 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2 USP13 NDUFB5 MRPL47 ENSG00000272660
GH03G179608 0.9 Ensembl ENCODE 7.1 -4.4 -4448 1.2 ZNF664 POLR2H ZNF121 MTA2 ZBTB33 KDM1A TBX21 SPI1 USP13 MRPL47 NDUFB5 ENSG00000239096
GH03G179544 0.6 ENCODE 5.4 +59.4 59430 1.7 NFYC CEBPG CHAMP1 FOXM1 ZNF316 POLR2A FOS ZBTB33 MLLT1 ENSG00000239255 GNB4 NDUFB5 MRPL47 ACTL6A PIR62273
GH03G179626 0.4 ENCODE 5.8 -22.6 -22630 1.1 ZBTB33 ATF2 USP13 NDUFB5 MRPL47 GC03P179625 GC03P179640
GH03G179591 0.7 FANTOM5 0.4 +13.2 13200 0.4 FOXA2 TRIM22 DPF2 TARDBP IKZF1 EED NBN RELB MLLT1 USP13 ENSG00000272660 MRPL47
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL47 on UCSC Golden Path with GeneCards custom track

Promoters for MRPL47 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000162576 -46 2201 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 FEZF1 ZNF2

Genomic Location for MRPL47 Gene

Chromosome:
3
Start:
179,588,285 bp from pter
End:
179,604,654 bp from pter
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). 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

Protein Domains for MRPL47 Gene

Suggested Antigen Peptide Sequences for MRPL47 Gene

GenScript: Design optimal peptide antigens:

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 IBA --
genes like me logo Genes that share ontologies with MRPL47: view

Phenotypes for MRPL47 Gene

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

Animal Models for MRPL47 Gene

MGI Knock Outs for MRPL47:

Animal Model Products

CRISPR Products

miRNA for MRPL47 Gene

miRTarBase miRNAs that target MRPL47

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPL47 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IEA --
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
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 --
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

Unigene Clusters for MRPL47 Gene

Mitochondrial ribosomal protein L47:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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
ECgene alternative splicing isoforms for
MRPL47

Expression for MRPL47 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MRPL47 Gene



Protein tissue co-expression partners for MRPL47 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL47 Gene:

MRPL47

SOURCE GeneReport for Unigene cluster for MRPL47 Gene:

Hs.283734
genes like me logo Genes that share expression patterns with MRPL47: 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 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 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia MRPL47 34 35
  • 87.6 (n)
cow
(Bos Taurus)
Mammalia MRPL47 34 35
  • 85.75 (n)
mouse
(Mus musculus)
Mammalia Mrpl47 34 16 35
  • 80.8 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl47 34
  • 79.73 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL47 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL47 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL47 34 35
  • 60.32 (n)
lizard
(Anolis carolinensis)
Reptilia MRPL47 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl47 34
  • 60.87 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5541 34
zebrafish
(Danio rerio)
Actinopterygii LOC557789 34
  • 63.44 (n)
mrpl47 35
  • 50 (a)
OneToOne
idibd1090 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002218 34
  • 47.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpL47 34
  • 45.81 (n)
Rlc1 35
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-47 35
  • 29 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.134 35
  • 43 (a)
OneToOne
Species where no ortholog for MRPL47 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)
  • 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 MRPL47 Gene

ENSEMBL:
Gene Tree for MRPL47 (if available)
TreeFam:
Gene Tree for MRPL47 (if available)

Paralogs for MRPL47 Gene

No data available for Paralogs for MRPL47 Gene

Variants for MRPL47 Gene

Sequence variations from dbSNP and Humsavar for MRPL47 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000484349 -- 179,596,553(+) ATCCA(C/T)GGTTG intron-variant
rs1000577197 -- 179,599,666(+) CAGAA(G/T)AATTA intron-variant
rs1000631110 -- 179,592,423(+) TCGCC(C/T)GACCT intron-variant
rs1000642297 -- 179,605,703(+) TACCA(A/G)TGCAG intron-variant, upstream-variant-2KB
rs1000732963 -- 179,605,336(+) TATGA(-/AGACAGGTAATATGT)AGACA intron-variant, upstream-variant-2KB

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)

Relevant External Links for MRPL47 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL47

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

(1) MalaCards diseases for MRPL47 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
leber optic atrophy
  • leber congenital amaurosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MRPL47

Genetic Association Database (GAD)
MRPL47
Human Genome Epidemiology (HuGE) Navigator
MRPL47
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPL47
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 E.C. … Spremulli L.L. (J. Biol. Chem. 2001) 2 3 4 64
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A. … Ramakrishnan V. (Science 2014) 3 4 64
  3. 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
  4. 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 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for MRPL47 Gene

Sources for MRPL47 Gene

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