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Aliases for MRPL43 Gene

Aliases for MRPL43 Gene

  • Mitochondrial Ribosomal Protein L43 2 3
  • Mitochondrial Ribosomal Protein BMRP36a 3 4
  • MRP-L43 3 4
  • L43mt 3 4
  • 39S Ribosomal Protein L43, Mitochondrial 3
  • BMRP36a 3

External Ids for MRPL43 Gene

Previous GeneCards Identifiers for MRPL43 Gene

  • GC10M101639
  • GC10M101971
  • GC10M102860
  • GC10M102402
  • GC10M102727
  • GC10M102737
  • GC10M096366

Summaries for MRPL43 Gene

Entrez Gene Summary for MRPL43 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. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL43 Gene

MRPL43 (Mitochondrial Ribosomal Protein L43) is a Protein Coding gene. Diseases associated with MRPL43 include chronic progressive external ophthalmoplegia. 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 MRPL43 Gene

Genomics for MRPL43 Gene

Regulatory Elements for MRPL43 Gene

Genomic Location for MRPL43 Gene

Start:
100,969,458 bp from pter
End:
100,987,515 bp from pter
Size:
18,058 bases
Orientation:
Minus strand

Genomic View for MRPL43 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MRPL43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL43 Gene

Proteins for MRPL43 Gene

  • Protein details for MRPL43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N983-RM43_HUMAN
    Recommended name:
    39S ribosomal protein L43, mitochondrial
    Protein Accession:
    Q8N983
    Secondary Accessions:
    • B1AL06
    • B1AL07
    • B1AL09
    • B1AL10
    • C9J5Q3
    • D3DR71
    • Q5JW06
    • Q7Z719
    • Q7Z7H6
    • Q86XN1
    • Q9BYC7

    Protein attributes for MRPL43 Gene

    Size:
    215 amino acids
    Molecular mass:
    23431 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB40861.1; Type=Frameshift; Positions=131; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL43 Gene

    Alternative splice isoforms for MRPL43 Gene

neXtProt entry for MRPL43 Gene

Proteomics data for MRPL43 Gene at MOPED

Post-translational modifications for MRPL43 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MRPL43 Gene

Domains for MRPL43 Gene

Gene Families for MRPL43 Gene

HGNC:
  • MRPL :Mitochondrial ribosomal proteins / large subunits

Protein Domains for MRPL43 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N983

UniProtKB/Swiss-Prot:

RM43_HUMAN :
  • Q8N983
Family:
  • Belongs to the ribosomal protein S25/L51 family.
genes like me logo Genes that share domains with MRPL43: view

Function for MRPL43 Gene

Gene Ontology (GO) - Molecular Function for MRPL43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome NAS 11543634
GO:0005515 protein binding IPI 25416956
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with MRPL43: view

miRNA for MRPL43 Gene

miRTarBase miRNAs that target MRPL43

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for MRPL43 Gene

Localization for MRPL43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL43 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MRPL43 Gene COMPARTMENTS Subcellular localization image for MRPL43 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MRPL43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 11543634
genes like me logo Genes that share ontologies with MRPL43: view

Pathways for MRPL43 Gene

SuperPathways for MRPL43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MRPL43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation NAS 11543634
GO:0006996 organelle organization TAS --
GO:0032543 mitochondrial translation TAS --
GO:0070124 mitochondrial translational initiation TAS --
GO:0070125 mitochondrial translational elongation TAS --
genes like me logo Genes that share ontologies with MRPL43: view

No data available for Pathways by source for MRPL43 Gene

Transcripts for MRPL43 Gene

Unigene Clusters for MRPL43 Gene

Mitochondrial ribosomal protein L43:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL43 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c · 4d
SP1: - - -
SP2: - - - -
SP3: -
SP4: -
SP5: - -
SP6:

Relevant External Links for MRPL43 Gene

GeneLoc Exon Structure for
MRPL43
ECgene alternative splicing isoforms for
MRPL43

Expression for MRPL43 Gene

mRNA expression in normal human tissues for MRPL43 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MRPL43 Gene

SOURCE GeneReport for Unigene cluster for MRPL43 Gene Hs.421848

mRNA Expression by UniProt/SwissProt for MRPL43 Gene

Q8N983-RM43_HUMAN
Tissue specificity: High relative levels in skeletal muscle and testis. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with PEO1.
genes like me logo Genes that share expressions with MRPL43: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MRPL43 Gene

Orthologs for MRPL43 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL43 35
  • 99.57 (n)
  • 100 (a)
MRPL43 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL43 35
  • 88.17 (n)
  • 89.68 (a)
MRPL43 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL43 35
  • 88.17 (n)
  • 90.97 (a)
MRPL43 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl43 35
  • 83.98 (n)
  • 83.12 (a)
Mrpl43 16
Mrpl43 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL43 36
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL43 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL43 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC54002 35
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl43 35
  • 63.79 (n)
  • 69.78 (a)
Str.1656 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11068 35
zebrafish
(Danio rerio)
Actinopterygii Dr.18076 35
mrpl43 35
  • 62.75 (n)
  • 61.03 (a)
mrpl43 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012837 35
  • 55 (n)
  • 49.17 (a)
fruit fly
(Drosophila melanogaster)
Insecta mRpL43 35
  • 51.85 (n)
  • 46.83 (a)
mRpL43 36
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mrpl-34 35
  • 39.19 (n)
  • 35.88 (a)
mrpl-34 36
  • 28 (a)
OneToOne
Species with no ortholog for MRPL43:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 MRPL43 Gene

ENSEMBL:
Gene Tree for MRPL43 (if available)
TreeFam:
Gene Tree for MRPL43 (if available)

Paralogs for MRPL43 Gene

No data available for Paralogs for MRPL43 Gene

Variants for MRPL43 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL43 Gene

Variant ID Type Subtype PubMed ID
nsv831965 CNV Loss 17160897
nsv467443 CNV Loss 19166990
nsv517698 CNV Loss 19592680
nsv895961 CNV Loss 21882294

Relevant External Links for MRPL43 Gene

HapMap Linkage Disequilibrium report
MRPL43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for MRPL43 Gene

Disorders for MRPL43 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for MRPL43 Gene including...

Search for MRPL43 Gene in MalaCards »

(1) University of Copenhagen DISEASES for MRPL43 Gene

Relevant External Links for MRPL43

Genetic Association Database (GAD)
MRPL43
Human Genome Epidemiology (HuGE) Navigator
MRPL43
genes like me logo Genes that share disorders with MRPL43: view

No data available for UniProtKB/Swiss-Prot for MRPL43 Gene

Publications for MRPL43 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 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. Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. (PMID: 15509589) Tyynismaa H. … Suomalainen A. (Hum. Mol. Genet. 2004) 3 4
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 48
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 48

Products for MRPL43 Gene

Sources for MRPL43 Gene

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