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 MRPL48 Gene

Aliases for MRPL48 Gene

  • Mitochondrial Ribosomal Protein L48 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML48 3 4
  • 39S Ribosomal Protein L48, Mitochondrial 3 4
  • CGI-118 2 3
  • MRP-L48 3 4
  • HSPC290 3
  • MRPL48 5
  • L48MT 3
  • L48mt 4

External Ids for MRPL48 Gene

Previous GeneCards Identifiers for MRPL48 Gene

  • GC11P075826
  • GC11P075038
  • GC11P073721
  • GC11P073225
  • GC11P073176
  • GC11P073498
  • GC11P069795

Summaries for MRPL48 Gene

Entrez Gene Summary for MRPL48 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. A pseudogene corresponding to this gene is found on chromosome 6p. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Jan 2016]

GeneCards Summary for MRPL48 Gene

MRPL48 (Mitochondrial Ribosomal Protein L48) is a Protein Coding gene. 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 MRPL48 Gene

Genomics for MRPL48 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL48 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 MRPL48 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL48

Top Transcription factor binding sites by QIAGEN in the MRPL48 gene promoter:
  • CREB
  • NF-E2
  • NF-E2 p45
  • NF-kappaB
  • NF-kappaB1
  • Nkx5-1
  • POU2F1a
  • POU3F2
  • RelA
  • RSRFC4

Genomic Locations for MRPL48 Gene

Latest Assembly
chr11:73,787,872-73,865,133
(GRCh38/hg38)
Size:
77,262 bases
Orientation:
Plus strand

Previous Assembly
chr11:73,498,919-73,576,178
(GRCh37/hg19 by Entrez Gene)
Size:
77,260 bases
Orientation:
Plus strand

chr11:73,498,361-73,576,178
(GRCh37/hg19 by Ensembl)
Size:
77,818 bases
Orientation:
Plus strand

Genomic View for MRPL48 Gene

Genes around MRPL48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL48 Gene

Proteins for MRPL48 Gene

  • Protein details for MRPL48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96GC5-RM48_HUMAN
    Recommended name:
    39S ribosomal protein L48, mitochondrial
    Protein Accession:
    Q96GC5
    Secondary Accessions:
    • B4DN34
    • Q49AK7
    • Q4U2Q4
    • Q9P091
    • Q9Y5J0

    Protein attributes for MRPL48 Gene

    Size:
    212 amino acids
    Molecular mass:
    23935 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. mL48 is located at the central protuberance (PubMed:25278503, PubMed:25838379). Interacts with OXA1L (By similarity).
    SequenceCaution:
    • Sequence=AAF28968.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL48 Gene

    Alternative splice isoforms for MRPL48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL48 Gene

Post-translational modifications for MRPL48 Gene

  • Ubiquitination at Lys199
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MRPL48 Gene

Domains & Families for MRPL48 Gene

Gene Families for MRPL48 Gene

Protein Domains for MRPL48 Gene

Suggested Antigen Peptide Sequences for MRPL48 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60720, highly similar to Homo sapiens mitochondrial ribosomal protein L48 (MRPL48), transcript variant 1, mRNA (B4DN34_HUMAN)
  • 39S ribosomal protein L48, mitochondrial (RM48_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96GC5

UniProtKB/Swiss-Prot:

RM48_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL48 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL48 family.
genes like me logo Genes that share domains with MRPL48: view

Function for MRPL48 Gene

Phenotypes From GWAS Catalog for MRPL48 Gene

Gene Ontology (GO) - Molecular Function for MRPL48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20601428
genes like me logo Genes that share ontologies with MRPL48: view
genes like me logo Genes that share phenotypes with MRPL48: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL48

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MRPL48 Gene

Localization for MRPL48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL48 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 MRPL48 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL48 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,IDA 20601428
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL48: view

Pathways & Interactions for MRPL48 Gene

genes like me logo Genes that share pathways with MRPL48: view

Gene Ontology (GO) - Biological Process for MRPL48 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 MRPL48: view

No data available for SIGNOR curated interactions for MRPL48 Gene

Drugs & Compounds for MRPL48 Gene

No Compound Related Data Available

Transcripts for MRPL48 Gene

mRNA/cDNA for MRPL48 Gene

5 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
14 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 MRPL48

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL48 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2: - -

Relevant External Links for MRPL48 Gene

GeneLoc Exon Structure for
MRPL48

Expression for MRPL48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL48 Gene

Protein differential expression in normal tissues from HIPED for MRPL48 Gene

This gene is overexpressed in Pancreas (9.0), Breast (8.0), and Bone (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL48 Gene



Protein tissue co-expression partners for MRPL48 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL48

SOURCE GeneReport for Unigene cluster for MRPL48 Gene:

Hs.503239

Evidence on tissue expression from TISSUES for MRPL48 Gene

  • Blood(4.1)
  • Nervous system(2.5)
genes like me logo Genes that share expression patterns with MRPL48: 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 MRPL48 Gene

Orthologs for MRPL48 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL48 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL48 29 30
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 90 (a)
OneToMany
MRPL48 29
  • 89.89 (n)
-- 30
  • 83 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia MRPL48 29 30
  • 88.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl48 29 16 30
  • 84.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl48 29
  • 83.65 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL48 30
  • 71 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL48 30
  • 65 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL48 29 30
  • 66.01 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL48 30
  • 53 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl48 29
  • 59.74 (n)
Str.13556 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.1444 29
Zebrafish
(Danio rerio)
Actinopterygii mrpl48 29 30
  • 59.48 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8749 29
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL48 30
  • 25 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea CD4.3 30
  • 22 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 29 (a)
OneToOne
Species where no ortholog for MRPL48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 MRPL48 Gene

ENSEMBL:
Gene Tree for MRPL48 (if available)
TreeFam:
Gene Tree for MRPL48 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL48: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL48

Paralogs for MRPL48 Gene

Pseudogenes.org Pseudogenes for MRPL48 Gene

genes like me logo Genes that share paralogs with MRPL48: view

No data available for Paralogs for MRPL48 Gene

Variants for MRPL48 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL48 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs17850551 -- p.Glu6Gly

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL48 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 MRPL48 Gene

Variant ID Type Subtype PubMed ID
esv1088910 CNV insertion 17803354
esv24132 CNV loss 19812545
esv2657134 CNV deletion 23128226
esv2676629 CNV deletion 23128226
esv3306332 CNV mobile element insertion 20981092
esv3419586 CNV insertion 20981092
esv3626821 CNV loss 21293372
esv3626822 CNV loss 21293372
nsv1045149 CNV gain 25217958
nsv1113412 CNV deletion 24896259
nsv1119892 CNV deletion 24896259
nsv391 CNV insertion 18451855
nsv509430 CNV insertion 20534489
nsv983206 CNV duplication 23825009

Variation tolerance for MRPL48 Gene

Residual Variation Intolerance Score: 35.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 50.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL48
Leiden Open Variation Database (LOVD)
MRPL48

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL48 Gene

Disorders for MRPL48 Gene

Additional Disease Information for MRPL48

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for MRPL48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPL48 Gene

Publications for MRPL48 Gene

  1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PMID: 10810093) Lai CH … Lin W (Genome research 2000) 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. 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

Products for MRPL48 Gene

Sources for MRPL48 Gene