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 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
  • 39S Ribosomal Protein L49, Mitochondrial 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 Dyskinetic Cerebral Palsy and Bone Benign Neoplasm. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Additional gene information for MRPL49 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL49 Gene

Genomics for MRPL49 Gene

GeneHancer (GH) Regulatory Elements for MRPL49 Gene

Promoters and enhancers for MRPL49 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J065109 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.4 -5.5 -5466 13.8 FOXK2 HNRNPK ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC ENSG00000255173 ENSG00000278952 ZNHIT2 TM7SF2 lnc-TM7SF2-2 piR-44523 MRPL49 ZFPL1 SF1 EIF1AD
GH11J065095 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.8 -25.5 -25490 2.2 EP300 FOXK2 ZBTB40 ZNF217 SIN3A NRF1 MYC TCF12 USF1 POLR2G VPS51 FAU RNASEH2C ZFPL1 ZNHIT2 MRPL49 TRMT112 LTBP3 EFEMP2 MAP3K11
GH11J065101 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.9 -20.2 -20214 2.5 CTCF ZNF10 FOXA2 OSR2 BCL11A ZBTB17 ZBTB33 KLF8 JUND GATA3 MRPL49 SYVN1 FAU PGAM1P8 CAPN1 ENSG00000254614 SPDYC SAC3D1 lnc-ZNHIT2-2 TMEM262
GH11J065149 Enhancer 0.9 ENCODE 12.5 +29.4 29387 3.4 NRF1 TCF12 GTF2E2 JUND ZIC2 ZBTB11 AFF1 RFX1 HES1 MYC SPDYC MRPL49 PGAM1P8 CAPN1 ENSG00000254614 FAU ZNHIT2 POLA2 SF3B2 RF00004-025
GH11J065098 Enhancer 0.3 Ensembl 11.8 -23.1 -23082 0.6 GATA3 FAU MRPL49 SPDYC PGAM1P8 CAPN1 ENSG00000254614 TMEM262 VPS51 lnc-ZNHIT2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL49 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL49

Top Transcription factor binding sites by QIAGEN in the MRPL49 gene promoter:
  • AP-1
  • ATF
  • ATF6
  • GR
  • GR-alpha
  • GR-beta
  • HEN1

Genomic Locations for MRPL49 Gene

Genomic Locations for MRPL49 Gene
chr11:65,122,183-65,127,371
(GRCh38/hg38)
Size:
5,189 bases
Orientation:
Plus strand
chr11:64,889,655-64,894,843
(GRCh37/hg19)
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) (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 (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

Antibody Products

  • Boster Bio Antibodies for MRPL49

No data available for DME Specific Peptides for MRPL49 Gene

Domains & Families for MRPL49 Gene

Gene Families for MRPL49 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for MRPL49 Gene

Blocks:
  • Mitochondrial large ribosomal subunit
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL49 Gene

GenScript: Design optimal peptide antigens:
  • Protein NOF1 (RM49_HUMAN)

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

Phenotypes From GWAS Catalog 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 21873635
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

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
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
cytosol 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 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,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome IDA 20601428
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
genes like me logo Genes that share ontologies with MRPL49: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL49 Gene

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

mRNA/cDNA for MRPL49 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

Expression for MRPL49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MRPL49 Gene



Protein tissue co-expression partners for MRPL49 Gene

- Elite partner

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

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 31 30
  • 99.2 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL49 31 30
  • 89.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL49 31 30
  • 86.95 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl49 17 31 30
  • 82.73 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl49 30
  • 82.13 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL49 31
  • 33 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL49 30
  • 63.45 (n)
lizard
(Anolis carolinensis)
Reptilia MRPL49 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl49 30
  • 61.52 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC558658 30
  • 64.32 (n)
BX248510.1 31
  • 51 (a)
OneToOne
Dr.13624 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1781 30
fruit fly
(Drosophila melanogaster)
Insecta mRpL49 31
  • 32 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-49 31
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IMG2 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5168 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL49: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL49 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
rs17146691 - p.Thr9Ala

Additional dbSNP identifiers (rs#s) for MRPL49 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
dyskinetic cerebral palsy
  • athetoid dyskinetic cerebral palsy
bone benign neoplasm
ossifying fibroma
  • fibro-osteoma
brachial plexus lesion
  • brachial plexus lesions
connective tissue benign neoplasm
  • neoplasm of soft tissue
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL49

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  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 54
  3. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 54
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  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 54

Products for MRPL49 Gene

Sources for MRPL49 Gene