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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
  • Mitochondrial Large Ribosomal Subunit Protein ML49 3 4
  • Next To FAU 2 3
  • C11orf4 3 4
  • MRP-L49 3 4
  • L49mt 3 4
  • NOF1 3 4
  • NOF 3 4
  • 39S Ribosomal Protein L49, Mitochondrial 3
  • 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 Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include structural constituent of ribosome.

No data available for CIViC summary , 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

Enhancers for MRPL49 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G065470 2.7 VISTA FANTOM5 Ensembl ENCODE dbSUPER 10.4 +367.9 367901 40.0 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 LOC105369352 ZFPL1 KAT5 ENSG00000254461 EIF1AD NEAT1 FRMD8 EHBP1L1 POLA2 LOC101927789
GH11G065650 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +530.5 530529 5.4 CREB3L1 MLX AGO1 ZFP64 DMAP1 FEZF1 YY1 SLC30A9 ZNF143 ZNF263 EIF1AD MAP3K11 ZFPL1 SIPA1 RNASEH2C LOC105369352 MRPL11 RBM14 KAT5 PCNX3
GH11G066078 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +959.6 959627 7.5 HDGF PKNOX1 FOXA2 AGO1 SIN3A YBX1 FEZF1 ZNF121 GATA2 CBX5 EIF1AD ENSG00000255320 SF3B2 SIPA1 RBM14 PACS1 ENSG00000258297 ZFPL1 PCNX3 KAT5
GH11G064354 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10 -764.2 -764209 6.6 HDGF PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A ZBTB7B YY1 ZNF207 PLCB3 LOC102723878 ZFPL1 ENSG00000257086 POLA2 VPS51 ATG2A CDC42BPG MRPL49 SNX15
GH11G065365 1.7 Ensembl ENCODE dbSUPER 10.4 +244.8 244785 2.1 CREB3L1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ZNF610 EIF1AD ZFPL1 PCNX3 POLA2 KAT5 ATG2A LOC105369352 MRPL49 SSSCA1 VPS51
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL49 on UCSC Golden Path with GeneCards custom track

Promoters for MRPL49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040780 17 1601 MLX CREB3L1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC SSRP1

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:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU). 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 (PubMed:11551941, PubMed:25278503, PubMed:25838379). Interacts with OXA1L (By similarity).

    Three dimensional structures from OCA and Proteopedia for MRPL49 Gene

neXtProt entry for MRPL49 Gene

Post-translational modifications for MRPL49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL49 Gene

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 mitochondrion-specific ribosomal protein mL49 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL49 family.
genes like me logo Genes that share domains with MRPL49: view

Function for MRPL49 Gene

Gene Ontology (GO) - Molecular Function for MRPL49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IBA --
GO:0005515 protein binding IPI 20601428
genes like me logo Genes that share ontologies with MRPL49: view
genes like me logo Genes that share phenotypes with MRPL49: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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
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 MRPL49 gene
Compartment Confidence
mitochondrion 5
cytosol 1

Gene Ontology (GO) - Cellular Components for MRPL49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IDA 20601428
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
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:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination 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:

CRISPR Products

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MRPL49 Gene



Protein tissue co-expression partners for MRPL49 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL49 Gene:

MRPL49

SOURCE GeneReport for Unigene cluster for MRPL49 Gene:

Hs.744882

mRNA Expression by UniProt/SwissProt for MRPL49 Gene:

Q13405-RM49_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for MRPL49 Gene

  • Pancreas(4.7)
  • Nervous system(4.4)
  • Kidney(4.3)
  • Muscle(4.3)
genes like me logo Genes that share expression patterns with MRPL49: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 34 35
  • 99.2 (n)
dog
(Canis familiaris)
Mammalia MRPL49 34 35
  • 89.16 (n)
cow
(Bos Taurus)
Mammalia MRPL49 34 35
  • 86.95 (n)
mouse
(Mus musculus)
Mammalia Mrpl49 34 16 35
  • 82.73 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl49 34
  • 82.13 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL49 35
  • 33 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL49 34
  • 63.45 (n)
lizard
(Anolis carolinensis)
Reptilia MRPL49 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl49 34
  • 61.52 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558658 34
  • 64.32 (n)
BX248510.1 35
  • 51 (a)
OneToOne
Dr.13624 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1781 34
fruit fly
(Drosophila melanogaster)
Insecta mRpL49 35
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-49 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMG2 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5168 35
  • 35 (a)
OneToOne
Species where no ortholog for MRPL49 was found in the sources mined by GeneCards:
  • 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
rs1000188824 -- 65,122,657(+) CAACG(C/T)TTCAG intron-variant, upstream-variant-2KB
rs1001216092 -- 65,122,399(+) TGTCC(A/C)GCGGG intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense
rs1001628612 -- 65,123,613(+) CCTGT(A/C)GTCCC intron-variant, upstream-variant-2KB
rs1002071969 -- 65,123,203(+) CTTGA(C/T)TGACT intron-variant, upstream-variant-2KB
rs1003542760 -- 65,123,903(+) TTTGT(A/T)TGAGA intron-variant, upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv526181 CNV gain 19592680

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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 and GeneCards

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 22 64
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A. … Ramakrishnan V. (Science 2014) 3 4 64
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. 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 64

Products for MRPL49 Gene

Sources for MRPL49 Gene

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