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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
  • 39S Ribosomal Protein L48, Mitochondrial 3
  • CGI-118 3
  • HSPC290 3

External Ids for MRPL48 Gene

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.

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

Genomic Location for MRPL48 Gene

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:
Genomic Location for MRPL48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL48 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys199

No data available for DME Specific Peptides for MRPL48 Gene

Domains for MRPL48 Gene

Gene Families for MRPL48 Gene

HGNC:
  • MRPL :Mitochondrial ribosomal proteins / large subunits

Protein Domains for MRPL48 Gene

InterPro:
ProtoNet:
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

Phenotypes for MRPL48 Gene

GenomeRNAi human phenotypes for MRPL48:
genes like me logo Genes that share phenotypes with MRPL48: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
nucleus 2

Gene Ontology (GO) - Cellular Components for MRPL48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IDA 20601428
genes like me logo Genes that share ontologies with MRPL48: view

Pathways for MRPL48 Gene

SuperPathways for MRPL48 Gene

No Data Available

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 Pathways by source for MRPL48 Gene

Transcripts for MRPL48 Gene

Unigene Clusters for MRPL48 Gene

Mitochondrial ribosomal protein L48:
Representative Sequences:

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with MRPL48: view

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 36
  • 99.37 (n)
  • 99.06 (a)
MRPL48 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL48 36
  • 88.21 (n)
  • 85.85 (a)
MRPL48 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 37
  • 90 (a)
OneToMany
-- 37
  • 83 (a)
OneToMany
MRPL48 36
  • 89.89 (n)
  • 87.68 (a)
mouse
(Mus musculus)
Mammalia Mrpl48 36
  • 84.29 (n)
  • 81.43 (a)
Mrpl48 16
Mrpl48 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL48 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL48 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl48 36
  • 83.65 (n)
  • 82.38 (a)
chicken
(Gallus gallus)
Aves MRPL48 36
  • 66.01 (n)
  • 60.78 (a)
MRPL48 37
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL48 37
  • 53 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.1444 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl48 36
  • 59.74 (n)
  • 55.45 (a)
Str.13556 36
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8749 36
zebrafish
(Danio rerio)
Actinopterygii mrpl48 36
  • 59.48 (n)
  • 50.98 (a)
mrpl48 37
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta mRpL48 37
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea CD4.3 37
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Relevant External Links for MRPL48 Gene

HapMap Linkage Disequilibrium report
MRPL48

Disorders for MRPL48 Gene

(1) University of Copenhagen DISEASES for MRPL48 Gene

Relevant External Links for MRPL48

Genetic Association Database (GAD)
MRPL48
Human Genome Epidemiology (HuGE) Navigator
MRPL48
genes like me logo Genes that share disorders with MRPL48: view

No data available for UniProtKB/Swiss-Prot 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 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 49
  4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3

Products for MRPL48 Gene

Sources for MRPL48 Gene

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