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 MRPL45 Gene

Aliases for MRPL45 Gene

  • Mitochondrial Ribosomal Protein L45 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML45 3 4
  • 39S Ribosomal Protein L45, Mitochondrial 3 4
  • MRP-L45 3 4
  • L45mt 3 4
  • MGC11321 2
  • MRPL45 5

External Ids for MRPL45 Gene

Previous GeneCards Identifiers for MRPL45 Gene

  • GC17M035907
  • GC17P038369
  • GC17P036363
  • GC17P036827
  • GC17P033706
  • GC17P032251

Summaries for MRPL45 Gene

Entrez Gene Summary for MRPL45 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. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]

GeneCards Summary for MRPL45 Gene

MRPL45 (Mitochondrial Ribosomal Protein L45) is a Protein Coding gene. Diseases associated with MRPL45 include Fanconi Anemia, Complementation Group L and Mitochondrial Complex Iv Deficiency, Nuclear Type 1. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL45 Gene

Genomics for MRPL45 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL45 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL45 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL45

Top Transcription factor binding sites by QIAGEN in the MRPL45 gene promoter:
  • AhR
  • Arnt
  • Bach2
  • FOXD1
  • Lmo2
  • Nkx3-1 v4
  • STAT1
  • STAT1alpha
  • STAT1beta
  • STAT3

Genomic Locations for MRPL45 Gene

Latest Assembly
chr17:38,297,023-38,323,217
(GRCh38/hg38)
Size:
26,195 bases
Orientation:
Plus strand

Previous Assembly
chr17:36,453,134-36,479,094
(GRCh37/hg19 by Entrez Gene)
Size:
25,961 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):2,332,199-2,358,159 (+)

Genomic View for MRPL45 Gene

Genes around MRPL45 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL45 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL45 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL45 Gene

Proteins for MRPL45 Gene

  • Protein details for MRPL45 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRJ2-RM45_HUMAN
    Recommended name:
    39S ribosomal protein L45, mitochondrial
    Protein Accession:
    Q9BRJ2
    Secondary Accessions:
    • A1L436
    • Q6ZMJ5

    Protein attributes for MRPL45 Gene

    Size:
    306 amino acids
    Molecular mass:
    35351 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:25278503, 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.
    SequenceCaution:
    • Sequence=BC006235; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL45 Gene

neXtProt entry for MRPL45 Gene

Post-translational modifications for MRPL45 Gene

  • Ubiquitination at Lys49, Lys54, Lys62, Lys71, Lys102, Lys177, Lys240, and Lys273
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL45 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL45 Gene

Domains & Families for MRPL45 Gene

Gene Families for MRPL45 Gene

Protein Domains for MRPL45 Gene

Suggested Antigen Peptide Sequences for MRPL45 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L45, mitochondrial (RM45_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BRJ2

UniProtKB/Swiss-Prot:

RM45_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL45 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL45 family.
genes like me logo Genes that share domains with MRPL45: view

Function for MRPL45 Gene

Phenotypes From GWAS Catalog for MRPL45 Gene

Gene Ontology (GO) - Molecular Function for MRPL45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL45: view
genes like me logo Genes that share phenotypes with MRPL45: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL45

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL45 Gene

Localization for MRPL45 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL45 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 MRPL45 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL45 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
genes like me logo Genes that share ontologies with MRPL45: view

Pathways & Interactions for MRPL45 Gene

genes like me logo Genes that share pathways with MRPL45: view

Gene Ontology (GO) - Biological Process for MRPL45 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 MRPL45: view

No data available for SIGNOR curated interactions for MRPL45 Gene

Drugs & Compounds for MRPL45 Gene

No Compound Related Data Available

Transcripts for MRPL45 Gene

mRNA/cDNA for MRPL45 Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
2 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 MRPL45

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL45 Gene

No ASD Table

Relevant External Links for MRPL45 Gene

GeneLoc Exon Structure for
MRPL45

Expression for MRPL45 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL45 Gene

Protein differential expression in normal tissues from HIPED for MRPL45 Gene

This gene is overexpressed in Breast (45.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MRPL45 Gene



Protein tissue co-expression partners for MRPL45 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL45

SOURCE GeneReport for Unigene cluster for MRPL45 Gene:

Hs.744110

Evidence on tissue expression from TISSUES for MRPL45 Gene

  • Nervous system(4.6)
  • Skin(2.4)
  • Muscle(2.3)
  • Liver(2.3)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with MRPL45: 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 MRPL45 Gene

Orthologs for MRPL45 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL45 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL45 29
  • 98.04 (n)
Cow
(Bos Taurus)
Mammalia MRPL45 29
  • 86.38 (n)
Dog
(Canis familiaris)
Mammalia MRPL45 29
  • 86.31 (n)
Rat
(Rattus norvegicus)
Mammalia Mrpl45 29
  • 82.79 (n)
Mouse
(Mus musculus)
Mammalia Mrpl45 29 16
  • 82.24 (n)
Chicken
(Gallus gallus)
Aves MRPL45 29
  • 60.82 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl45 29
  • 61.48 (n)
Str.2539 29
African clawed frog
(Xenopus laevis)
Amphibia MGC53772 29
Zebrafish
(Danio rerio)
Actinopterygii mrpl45 29
  • 64.44 (n)
zgc56480 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9478 29
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL45 29 31
  • 54.22 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002412 29
  • 52.26 (n)
Species where no ortholog for MRPL45 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • 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 Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 MRPL45 Gene

ENSEMBL:
Gene Tree for MRPL45 (if available)
TreeFam:
Gene Tree for MRPL45 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL45: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL45

Paralogs for MRPL45 Gene

Pseudogenes.org Pseudogenes for MRPL45 Gene

genes like me logo Genes that share paralogs with MRPL45: view

No data available for Paralogs for MRPL45 Gene

Variants for MRPL45 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL45 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs34749623 -- p.Gly298Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL45 Gene

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

Structural Variations from Database of Genomic Variants (DGV) for MRPL45 Gene

Variant ID Type Subtype PubMed ID
esv2758688 CNV gain+loss 17122850
esv33106 CNV gain 17666407
nsv1146669 OTHER inversion 26484159
nsv428341 CNV gain+loss 18775914
nsv471507 CNV gain 19718026
nsv960482 CNV duplication 23825009

Variation tolerance for MRPL45 Gene

Residual Variation Intolerance Score: 85% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.55; 86.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL45 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL45
Leiden Open Variation Database (LOVD)
MRPL45

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL45 Gene

Disorders for MRPL45 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPL45 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL45

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 MRPL45: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL45 Gene

Publications for MRPL45 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MRPL45 Gene

Sources for MRPL45 Gene