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 MRPL43 Gene

Aliases for MRPL43 Gene

  • Mitochondrial Ribosomal Protein L43 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML43 3 4
  • 39S Ribosomal Protein L43, Mitochondrial 3 4
  • Mitochondrial Ribosomal Protein BMRP36a 3 4
  • MRP-L43 3 4
  • BMRP36a 2 3
  • L43mt 3 4
  • MRPL43 5

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 Spastic Paraplegia 45, Autosomal Recessive and Mitochondrial Dna Depletion Syndrome 7. 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.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL43 Gene

Genomics for MRPL43 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL43 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL43 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL43

Top Transcription factor binding sites by QIAGEN in the MRPL43 gene promoter:
  • COUP
  • COUP-TF
  • COUP-TF1
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-kappaB1
  • Pax-5
  • Sp1

Genomic Locations for MRPL43 Gene

Latest Assembly
chr10:100,969,458-100,987,515
(GRCh38/hg38)
Size:
18,058 bases
Orientation:
Minus strand

Previous Assembly
chr10:102,737,577-102,747,254
(GRCh37/hg19 by Entrez Gene)
Size:
9,678 bases
Orientation:
Minus strand

chr10:102,729,215-102,747,272
(GRCh37/hg19 by Ensembl)
Size:
18,058 bases
Orientation:
Minus strand

Genomic View for MRPL43 Gene

Genes around MRPL43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • 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.
    SequenceCaution:
    • Sequence=BAB40861.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL43 Gene

    Alternative splice isoforms for MRPL43 Gene

neXtProt entry for MRPL43 Gene

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 & Families for MRPL43 Gene

Gene Families for MRPL43 Gene

Protein Domains for MRPL43 Gene

InterPro:
Blocks:
  • Mitochondrial ribosome

Suggested Antigen Peptide Sequences for MRPL43 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61386, highly similar to Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), transcript variant 4, mRNA (B1AL06_HUMAN)
  • Mitochondrial ribosomal protein L43 (B1AL08_HUMAN)
  • MRPL43 protein (Q86XN0_HUMAN)
  • Mitochondrial ribosomal protein bMRP36a (RM43_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N983

UniProtKB/Swiss-Prot:

RM43_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL43 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL43 family.
genes like me logo Genes that share domains with MRPL43: view

Function for MRPL43 Gene

Phenotypes From GWAS Catalog for MRPL43 Gene

Gene Ontology (GO) - Molecular Function for MRPL43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IBA,NAS 11543634
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL43: view
genes like me logo Genes that share phenotypes with MRPL43: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL43

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL43 Gene

Localization for MRPL43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL43 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 MRPL43 gene
Compartment Confidence
mitochondrion 5
nucleus 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 11543634
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL43: view

Pathways & Interactions for MRPL43 Gene

genes like me logo Genes that share pathways with MRPL43: view

Gene Ontology (GO) - Biological Process for MRPL43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation NAS 11543634
GO:0032543 mitochondrial translation IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL43: view

No data available for SIGNOR curated interactions for MRPL43 Gene

Drugs & Compounds for MRPL43 Gene

No Compound Related Data Available

Transcripts for MRPL43 Gene

mRNA/cDNA for MRPL43 Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL43

Clone products for research

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

Expression for MRPL43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL43 Gene

Protein differential expression in normal tissues from HIPED for MRPL43 Gene

This gene is overexpressed in Bone (19.0) and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL43 Gene



Protein tissue co-expression partners for MRPL43 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL43

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 TWNK.

Evidence on tissue expression from TISSUES for MRPL43 Gene

  • Nervous system(4.6)
  • Skin(4.4)
  • Pancreas(4.4)
genes like me logo Genes that share expression patterns with MRPL43: 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 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 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL43 29 30
  • 88.17 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL43 29 30
  • 88.17 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl43 29 16 30
  • 83.98 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MRPL43 30
  • 62 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MRPL43 30
  • 51 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MRPL43 30
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl43 29
  • 63.79 (n)
Str.1656 29
African clawed frog
(Xenopus laevis)
Amphibia MGC54002 29
Zebrafish
(Danio rerio)
Actinopterygii mrpl43 29 30
  • 62.75 (n)
OneToOne
Dr.18076 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11068 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012837 29
  • 55 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL43 29 30
  • 51.85 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mrpl-34 29 30
  • 39.19 (n)
OneToOne
Species where no ortholog for MRPL43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL43: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL43

Paralogs for MRPL43 Gene

No data available for Paralogs for MRPL43 Gene

Variants for MRPL43 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL43 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs113498503 Benign: not provided 100,980,855(-) A/G
NM_176792.3(MRPL43):c.529-1483T>C
MISSENSE_VARIANT,INTRON
rs140405167 Likely Benign: not provided 100,983,761(-) G/A
NM_176792.3(MRPL43):c.522C>T (p.Pro174=)
MISSENSE_VARIANT,NONSENSE,SYNONYMOUS_VARIANT,INTRON
rs146245319 Benign: not provided 100,983,388(-) C/T
NM_176792.3(MRPL43):c.528+367G>A
MISSENSE_VARIANT,INTRON
rs188155769 Benign: not provided 100,979,179(-) A/G
NM_176792.3(MRPL43):c.*74T>C
SYNONYMOUS_VARIANT,THREE_PRIME_UTR
rs7901675 Benign: not provided 100,980,600(-) C/T
NM_176792.3(MRPL43):c.529-1228G>A
SYNONYMOUS_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL43 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv467443 CNV loss 19166990
nsv517698 CNV loss 19592680
nsv552051 CNV loss 21841781
nsv831965 CNV loss 17160897

Variation tolerance for MRPL43 Gene

Residual Variation Intolerance Score: 85.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL43 Gene

Human Gene Mutation Database (HGMD)
MRPL43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL43
Leiden Open Variation Database (LOVD)
MRPL43

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL43 Gene

Disorders for MRPL43 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPL43 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL43

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MRPL43: view

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

Publications for MRPL43 Gene

  1. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  4. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A … Goate A (American journal of human genetics 2006) 3 40
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MRPL43 Gene

Sources for MRPL43 Gene