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Aliases for MRPL54 Gene

Aliases for MRPL54 Gene

  • Mitochondrial Ribosomal Protein L54 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML54 3 4
  • 39S Ribosomal Protein L54, Mitochondrial 3 4
  • MRP-L54 3 4
  • L54mt 3 4

External Ids for MRPL54 Gene

Previous GeneCards Identifiers for MRPL54 Gene

  • GC19U990297
  • GC19P003702
  • GC19P003713
  • GC19P003527

Summaries for MRPL54 Gene

Entrez Gene Summary for MRPL54 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL54 Gene

MRPL54 (Mitochondrial Ribosomal Protein L54) is a Protein Coding gene. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance.

Additional gene information for MRPL54 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL54 Gene

Genomics for MRPL54 Gene

GeneHancer (GH) Regulatory Elements for MRPL54 Gene

Promoters and enhancers for MRPL54 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
GH19J003760 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 646 -0.6 -566 3.4 ZNF652 CC2D1A ZFX ELF3 CTCF MNT SIX5 NKRF POLR2A ZNF121 APBA3 MRPL54 GC19M003753 LOC105372248 CACTIN-AS1 DPP9-AS1 ENSG00000267030 YJU2 ENSG00000267139 CACTIN
GH19J003719 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 18.9 -41.5 -41529 4.9 ZNF652 CC2D1A SP1 ELF3 ZKSCAN8 ZNF148 NKRF MLLT1 ZNF121 GTF2F1 GC19P003720 ZNF77 CACTIN ZNF555 TLE2 MRPL54 GNA11 ZNF554 HDGFL2 APBA3
GH19J003784 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 17.5 +23.0 23034 2.6 ZBTB7A EGR1 ZNF639 GLIS2 GMEB1 ZBTB8A PRDM10 TARDBP ZSCAN4 ZEB2 MATK ENSG00000267030 CACTIN ZNF77 YJU2 C19orf71 ZNF555 ENSG00000267769 CACTIN-AS1 MRPL54
GH19J003771 Enhancer 0.8 Ensembl ENCODE 32.2 +8.6 8634 0.6 ZNF580 ZNF623 ZFHX2 BCOR GLI4 ZFP3 HIC1 ZMYM3 KDM1A EGR2 RAX2 MRPL54
GH19J004453 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 +693.4 693395 5.1 SP1 CC2D1A ZFX ELF3 MNT CBFA2T2 ZNF148 NKRF MLLT1 GTF2F1 UBXN6 ENSG00000267769 CHAF1A ENSG00000267030 APBA3 CACTIN-AS1 SH3GL1 YJU2 DPP9-AS1 CACTIN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL54 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL54 gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • c-Myc
  • Max1
  • NF-1
  • NF-1/L
  • p300

Genomic Locations for MRPL54 Gene

Genomic Locations for MRPL54 Gene
chr19:3,762,667-3,768,575
(GRCh38/hg38)
Size:
5,909 bases
Orientation:
Plus strand
chr19:3,762,662-3,768,573
(GRCh37/hg19)
Size:
5,912 bases
Orientation:
Plus strand

Genomic View for MRPL54 Gene

Genes around MRPL54 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL54 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL54 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL54 Gene

Proteins for MRPL54 Gene

  • Protein details for MRPL54 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P161-RM54_HUMAN
    Recommended name:
    39S ribosomal protein L54, mitochondrial
    Protein Accession:
    Q6P161

    Protein attributes for MRPL54 Gene

    Size:
    138 amino acids
    Molecular mass:
    15819 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25838379, PubMed:28892042). 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 MRPL54 Gene

neXtProt entry for MRPL54 Gene

Post-translational modifications for MRPL54 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL54 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL54 Gene

Domains & Families for MRPL54 Gene

Gene Families for MRPL54 Gene

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

Protein Domains for MRPL54 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL54 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L54, mitochondrial (RM54_HUMAN)

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with MRPL54: view

No data available for UniProtKB/Swiss-Prot for MRPL54 Gene

Function for MRPL54 Gene

Phenotypes From GWAS Catalog for MRPL54 Gene

Gene Ontology (GO) - Molecular Function for MRPL54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003735 structural constituent of ribosome IBA 21873635
genes like me logo Genes that share ontologies with MRPL54: view
genes like me logo Genes that share phenotypes with MRPL54: view

Animal Model Products

CRISPR Products

miRNA for MRPL54 Gene

miRTarBase miRNAs that target MRPL54

Clone Products

  • Applied Biological Materials (abm): Clones for MRPL54 - Now 50% OFF >
  • * MRPL54 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MRPL54 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL54 Gene

Localization for MRPL54 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL54 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 MRPL54 gene
Compartment Confidence
mitochondrion 5
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA,IBA 25838379
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL54: view

Pathways & Interactions for MRPL54 Gene

genes like me logo Genes that share pathways with MRPL54: view

Gene Ontology (GO) - Biological Process for MRPL54 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL54: view

No data available for SIGNOR curated interactions for MRPL54 Gene

Drugs & Compounds for MRPL54 Gene

No Compound Related Data Available

Transcripts for MRPL54 Gene

mRNA/cDNA for MRPL54 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(126) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for MRPL54 Gene

Mitochondrial ribosomal protein L54:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for MRPL54 - Now 50% OFF >
  • * MRPL54 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * MRPL54 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL54 Gene

No ASD Table

Relevant External Links for MRPL54 Gene

GeneLoc Exon Structure for
MRPL54
ECgene alternative splicing isoforms for
MRPL54

Expression for MRPL54 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPL54 Gene

Protein differential expression in normal tissues from HIPED for MRPL54 Gene

This gene is overexpressed in Bone (12.9), Lung (11.3), Breast (9.9), and Pancreas (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL54 Gene



Protein tissue co-expression partners for MRPL54 Gene

NURSA nuclear receptor signaling pathways regulating expression of MRPL54 Gene:

MRPL54

SOURCE GeneReport for Unigene cluster for MRPL54 Gene:

Hs.356578

Evidence on tissue expression from TISSUES for MRPL54 Gene

  • Skin(4.3)
genes like me logo Genes that share expression patterns with MRPL54: view

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 MRPL54 Gene

Orthologs for MRPL54 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL54 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL54 35 34
  • 98.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL54 35 34
  • 81.64 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL54 35 34
  • 80.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl54 34
  • 76.05 (n)
mouse
(Mus musculus)
Mammalia Mrpl54 17 35 34
  • 75.56 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL54 35
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL54 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL54 35 34
  • 66.99 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL54 35
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl54 34
  • 63.42 (n)
zebrafish
(Danio rerio)
Actinopterygii mrpl54 35 34
  • 63.14 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mRpL54 35
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3539 35
  • 29 (a)
OneToOne
Species where no ortholog for MRPL54 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MRPL54 Gene

ENSEMBL:
Gene Tree for MRPL54 (if available)
TreeFam:
Gene Tree for MRPL54 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL54: view image

Paralogs for MRPL54 Gene

Pseudogenes.org Pseudogenes for MRPL54 Gene

genes like me logo Genes that share paralogs with MRPL54: view

No data available for Paralogs for MRPL54 Gene

Variants for MRPL54 Gene

Sequence variations from dbSNP and Humsavar for MRPL54 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000215475 -- 3,767,032(+) G/A intron_variant
rs1000501604 -- 3,765,162(+) C/T intron_variant
rs1000565899 -- 3,766,782(+) C/T intron_variant
rs1000956396 -- 3,768,017(+) C/T downstream_transcript_variant
rs1001169222 -- 3,765,553(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MRPL54 Gene

Variant ID Type Subtype PubMed ID
nsv470114 CNV loss 18288195
nsv509718 CNV insertion 20534489

Variation tolerance for MRPL54 Gene

Residual Variation Intolerance Score: 68.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.85; 17.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL54 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL54

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL54 Gene

Disorders for MRPL54 Gene

Additional Disease Information for MRPL54

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MRPL54 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL54 Gene

Publications for MRPL54 Gene

  1. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4 58
  2. Ribosome. The structure of the human mitochondrial ribosome. (PMID: 25838379) Amunts A … Ramakrishnan V (Science (New York, N.Y.) 2015) 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 45 58
  4. 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
  5. 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 58

Products for MRPL54 Gene

Sources for MRPL54 Gene

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