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Aliases for MRPL48 Gene

Aliases for MRPL48 Gene

  • Mitochondrial Ribosomal Protein L48 2 3
  • MRP-L48 3 4
  • L48MT 3 4
  • CGI-118 3
  • HSPC290 3

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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL48 Gene

MRPL48 (Mitochondrial Ribosomal Protein L48) is a Protein Coding gene. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL48 Gene

Genomics for MRPL48 Gene

Regulatory Elements for MRPL48 Gene

Genomic Location for MRPL48 Gene

Chromosome:
11
Start:
73,787,316 bp from pter
End:
73,865,133 bp from pter
Size:
77,818 bases
Orientation:
Plus strand

Genomic View for MRPL48 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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:
    • Interacts with OXA1L.
    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

Proteomics data for MRPL48 Gene at MOPED

Post-translational modifications for MRPL48 Gene

  • Ubiquitination at Lys 199
  • 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

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for MRPL48 Gene

Function 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

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MRPL48

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
Jensen Localization Image for MRPL48 Gene COMPARTMENTS Subcellular localization image for MRPL48 gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for MRPL48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IDA 20601428
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:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0070124 mitochondrial translational initiation TAS --
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

Unigene Clusters for MRPL48 Gene

Mitochondrial ribosomal protein L48:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MRPL48

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
MRPL48

Expression for MRPL48 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for MRPL48 Gene



SOURCE GeneReport for Unigene cluster for MRPL48 Gene Hs.503239

genes like me logo Genes that share expression patterns with MRPL48: view

Protein tissue co-expression partners for MRPL48 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia MRPL48 35
  • 88.21 (n)
  • 85.85 (a)
MRPL48 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL48 35
  • 89.89 (n)
  • 87.68 (a)
-- 36
  • 90 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Mrpl48 35
  • 84.29 (n)
  • 81.43 (a)
Mrpl48 16
Mrpl48 36
  • 81 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MRPL48 35
  • 99.37 (n)
  • 99.06 (a)
MRPL48 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl48 35
  • 83.65 (n)
  • 82.38 (a)
oppossum
(Monodelphis domestica)
Mammalia MRPL48 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL48 36
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL48 35
  • 66.01 (n)
  • 60.78 (a)
MRPL48 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL48 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl48 35
  • 59.74 (n)
  • 55.45 (a)
Str.13556 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.1444 35
zebrafish
(Danio rerio)
Actinopterygii mrpl48 35
  • 59.48 (n)
  • 50.98 (a)
mrpl48 36
  • 50 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8749 35
fruit fly
(Drosophila melanogaster)
Insecta mRpL48 36
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CD4.3 36
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToOne
Species with no ortholog for MRPL48:
  • A. gosspyii yeast (Ashbya 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 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)

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 from dbSNP and Humsavar for MRPL48 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs1641 -- 73,839,542(-) acact(A/G)cttta intron-variant
rs12262 -- 73,864,459(+) GACCC(A/G)ACCCT utr-variant-3-prime
rs14942 -- 73,864,487(-) CTATG(A/C/G)GAATG utr-variant-3-prime
rs1051090 -- 73,864,454(+) CAGGA(A/G)ACCCA utr-variant-3-prime
rs1131607 -- 73,828,777(-) TGCTT(A/T)TTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MRPL48 Gene

Variant ID Type Subtype PubMed ID
nsv509430 CNV Insertion 20534489
nsv391 CNV Insertion 18451855
esv2676629 CNV Deletion 23128226
esv24132 CNV Loss 19812545
esv2657134 CNV Deletion 23128226
esv270609 CNV Insertion 20981092
esv1088910 CNV Insertion 17803354

Variation tolerance for MRPL48 Gene

Residual Variation Intolerance Score: 35.37% 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)

Relevant External Links for MRPL48 Gene

HapMap Linkage Disequilibrium report
MRPL48

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

Disorders for MRPL48 Gene

Relevant External Links for MRPL48

Genetic Association Database (GAD)
MRPL48
Human Genome Epidemiology (HuGE) Navigator
MRPL48
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPL48
genes like me logo Genes that share disorders with MRPL48: view

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 C.-H. … Lin W.-C. (Genome Res. 2000) 2 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  3. N-terminome analysis of the human mitochondrial proteome. (PMID: 25944712) Vaca Jacome A.S. … Carapito C. (Proteomics 2015) 67
  4. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 67
  5. 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) 67

Products for MRPL48 Gene

Sources for MRPL48 Gene

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