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Aliases for MRPL49 Gene

Aliases for MRPL49 Gene

  • Mitochondrial Ribosomal Protein L49 2 3 5
  • Neighbor Of FAU 2 3 4
  • Next To FAU 2 3
  • C11orf4 3 4
  • MRP-L49 3 4
  • L49mt 3 4
  • NOF1 3 4
  • NOF 3 4
  • Chromosome 11 Open Reading Frame 4 2
  • Protein NOF1 4

External Ids for MRPL49 Gene

Previous HGNC Symbols for MRPL49 Gene

  • C11orf4

Previous GeneCards Identifiers for MRPL49 Gene

  • GC11P067405
  • GC11P066571
  • GC11P065139
  • GC11P064665
  • GC11P064646
  • GC11P064889
  • GC11P061216

Summaries for MRPL49 Gene

Entrez Gene Summary for MRPL49 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. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]

GeneCards Summary for MRPL49 Gene

MRPL49 (Mitochondrial Ribosomal Protein L49) is a Protein Coding gene. Diseases associated with MRPL49 include neonatal myasthenia gravis and glossopharyngeal neuralgia. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. GO annotations related to this gene include structural constituent of ribosome.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL49 Gene

Genomics for MRPL49 Gene

Regulatory Elements for MRPL49 Gene

Genomic Location for MRPL49 Gene

Chromosome:
11
Start:
65,122,183 bp from pter
End:
65,127,371 bp from pter
Size:
5,189 bases
Orientation:
Plus strand

Genomic View for MRPL49 Gene

Genes around MRPL49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL49 Gene

Proteins for MRPL49 Gene

  • Protein details for MRPL49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13405-RM49_HUMAN
    Recommended name:
    39S ribosomal protein L49, mitochondrial
    Protein Accession:
    Q13405
    Secondary Accessions:
    • B2R4G6

    Protein attributes for MRPL49 Gene

    Size:
    166 amino acids
    Molecular mass:
    19198 Da
    Quaternary structure:
    • Interacts with OXA1L.

    Three dimensional structures from OCA and Proteopedia for MRPL49 Gene

neXtProt entry for MRPL49 Gene

Proteomics data for MRPL49 Gene at MOPED

Post-translational modifications for MRPL49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL49 Gene

Antibody Products

No data available for DME Specific Peptides for MRPL49 Gene

Domains & Families for MRPL49 Gene

Gene Families for MRPL49 Gene

Protein Domains for MRPL49 Gene

Suggested Antigen Peptide Sequences for MRPL49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13405

UniProtKB/Swiss-Prot:

RM49_HUMAN :
  • Belongs to the ribosomal protein L49em family.
Family:
  • Belongs to the ribosomal protein L49em family.
genes like me logo Genes that share domains with MRPL49: view

Function for MRPL49 Gene

genes like me logo Genes that share phenotypes with MRPL49: view

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL49 Gene

Localization for MRPL49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL49 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MRPL49 Gene COMPARTMENTS Subcellular localization image for MRPL49 gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for MRPL49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with MRPL49: view

Pathways & Interactions for MRPL49 Gene

genes like me logo Genes that share pathways with MRPL49: view

Gene Ontology (GO) - Biological Process for MRPL49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0032543 mitochondrial translation TAS --
genes like me logo Genes that share ontologies with MRPL49: view

No data available for SIGNOR curated interactions for MRPL49 Gene

Drugs & Compounds for MRPL49 Gene

No Compound Related Data Available

Transcripts for MRPL49 Gene

Unigene Clusters for MRPL49 Gene

Mitochondrial ribosomal protein L49:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL49 Gene

No ASD Table

Relevant External Links for MRPL49 Gene

GeneLoc Exon Structure for
MRPL49
ECgene alternative splicing isoforms for
MRPL49

Expression for MRPL49 Gene

mRNA expression in normal human tissues for MRPL49 Gene

Protein differential expression in normal tissues from HIPED for MRPL49 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.3) and Pancreas (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MRPL49 Gene



SOURCE GeneReport for Unigene cluster for MRPL49 Gene Hs.744882

mRNA Expression by UniProt/SwissProt for MRPL49 Gene

Q13405-RM49_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with MRPL49: view

Protein tissue co-expression partners for MRPL49 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MRPL49 Gene

Orthologs for MRPL49 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MRPL49 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL49 35
  • 99.2 (n)
  • 99.4 (a)
MRPL49 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL49 36
  • 89 (a)
OneToOne
MRPL49 35
  • 86.95 (n)
  • 89.16 (a)
dog
(Canis familiaris)
Mammalia MRPL49 35
  • 89.16 (n)
  • 91.57 (a)
MRPL49 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl49 16
Mrpl49 35
  • 82.73 (n)
  • 83.13 (a)
Mrpl49 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL49 36
  • 33 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrpl49 35
  • 82.13 (n)
  • 83.73 (a)
chicken
(Gallus gallus)
Aves MRPL49 35
  • 63.45 (n)
  • 55.42 (a)
lizard
(Anolis carolinensis)
Reptilia MRPL49 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl49 35
  • 61.52 (n)
  • 63.58 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1781 35
zebrafish
(Danio rerio)
Actinopterygii BX248510.1 36
  • 51 (a)
OneToOne
Dr.13624 35
LOC558658 35
  • 64.32 (n)
  • 65.62 (a)
fruit fly
(Drosophila melanogaster)
Insecta mRpL49 36
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-49 36
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMG2 38
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5168 36
  • 35 (a)
OneToOne
Species with no ortholog for MRPL49:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 MRPL49 Gene

ENSEMBL:
Gene Tree for MRPL49 (if available)
TreeFam:
Gene Tree for MRPL49 (if available)

Paralogs for MRPL49 Gene

Pseudogenes.org Pseudogenes for MRPL49 Gene

genes like me logo Genes that share paralogs with MRPL49: view

No data available for Paralogs for MRPL49 Gene

Variants for MRPL49 Gene

Sequence variations from dbSNP and Humsavar for MRPL49 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_021991 -
rs3782094 -- 65,124,998(-) AAAGC(C/T)AAATT intron-variant
rs3782095 -- 65,124,944(-) GTACA(C/T)AGTCT intron-variant
rs11546364 -- 65,126,454(+) TGTTT(C/T)TCTTT nc-transcript-variant, utr-variant-3-prime
rs11546366 -- 65,125,893(+) CCTGC(A/T)TGTCA nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for MRPL49 Gene

Variant ID Type Subtype PubMed ID
nsv526181 CNV Gain 19592680
dgv1174n71 CNV Loss 21882294

Variation tolerance for MRPL49 Gene

Residual Variation Intolerance Score: 64.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.38; 27.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRPL49 Gene

HapMap Linkage Disequilibrium report
MRPL49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL49 Gene

Disorders for MRPL49 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRPL49 Gene - From: DISEASES

Disorder Aliases PubMed IDs
neonatal myasthenia gravis
  • myasthenia gravis, neonatal
glossopharyngeal neuralgia
  • glossovasopharyngeal neuralgia
glossopharyngeal nerve disease
  • glossopharyngeal nerve diseases
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MRPL49

Genetic Association Database (GAD)
MRPL49
Human Genome Epidemiology (HuGE) Navigator
MRPL49
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPL49
genes like me logo Genes that share disorders with MRPL49: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL49 Gene

Publications for MRPL49 Gene

  1. Isolation, cDNA, and genomic structure of a conserved gene (NOF) at chromosome 11q13 next to FAU and oriented in the opposite transcriptional orientation. (PMID: 8786148) Kas K. … Merregaert J. (Genomics 1996) 2 3 4 23 67
  2. 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) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PMID: 23349634) Cloutier P. … Coulombe B. (PLoS Genet. 2013) 3
  5. Quantitative study of the interactome of PKCIP involved in the EGF-induced tumor cell chemotaxis. (PMID: 23402259) Chen R. … Zhang N. (J. Proteome Res. 2013) 3

Products for MRPL49 Gene

Sources for MRPL49 Gene

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