Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MRPL43 Gene

Aliases for MRPL43 Gene

  • Mitochondrial Ribosomal Protein L43 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML43 3 4
  • 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 Mitochondrial Dna Depletion Syndrome 7 and Spastic Paraplegia 45, Autosomal Recessive. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Additional gene information for MRPL43 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL43 Gene

Genomics for MRPL43 Gene

GeneHancer (GH) Regulatory Elements for MRPL43 Gene

Promoters and enhancers for MRPL43 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
GH10I100986 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 564.9 -0.1 -132 2.5 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B MRPL43 GC10M100989 PIR54177 PIR47631 PIR56323 PIR57005 PIR34755 TWNK PHBP9 LZTS2
GH10I101828 Promoter/Enhancer 2 FANTOM5 Ensembl ENCODE dbSUPER 56.8 -843.5 -843468 4.4 HDGF PKNOX1 CLOCK SMAD1 ARNT SIN3A ZNF2 ZBTB7B ZNF766 ZNF302 PPRC1 LDB1 GBF1 LZTS2 MRPL43 HPS6 NOLC1 SUFU ENSG00000272572 KCNIP2-AS1
GH10I101030 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 34.1 -45.7 -45732 6.4 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 FOS PDZD7 SFXN3 MRPL43 TWNK KAZALD1 TLX1 TLX1NB SEMA4G ENSG00000236662 MIR608
GH10I101692 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 30.4 -706.8 -706832 3.1 HDGF ARNT ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF143 SP3 SP5 FBXW4 PPRC1 GBF1 MRPL43 LDB1 ENSG00000272572 HPS6 TWNK SUFU LZTS2
GH10I100178 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.4 +804.3 804344 8.7 PKNOX1 FOXA2 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 ZNF2 YY1 POLR2B ERLIN1 BLOC1S2 CWF19L1 EBAG9P1 PHBP9 MRPL43 CHUK ENSG00000236308 ENSG00000272572 LOC101927300
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPL43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL43 gene promoter:

Genomic Locations for MRPL43 Gene

Genomic Locations for MRPL43 Gene
chr10:100,969,458-100,987,515
(GRCh38/hg38)
Size:
18,058 bases
Orientation:
Minus strand
chr10:102,729,215-102,747,272
(GRCh37/hg19)

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). 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; 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

Post-translational modifications for MRPL43 Gene

No Post-translational modifications

No data available for DME Specific Peptides for MRPL43 Gene

Domains & Families for MRPL43 Gene

Gene Families for MRPL43 Gene

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

Protein Domains for MRPL43 Gene

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 NAS,IBA 11543634
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with MRPL43: view

Phenotypes for MRPL43 Gene

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

Animal Model Products

miRNA for MRPL43 Gene

miRTarBase miRNAs that target MRPL43

Clone Products

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
cytosol 2
peroxisome 1
nucleus 1

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 --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005761 mitochondrial ribosome NAS 11543634
GO:0005762 mitochondrial large ribosomal subunit 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: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

Unigene Clusters for MRPL43 Gene

Mitochondrial ribosomal protein L43:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MRPL43 Gene



Protein tissue co-expression partners for MRPL43 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL43 Gene:

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)
  • Pancreas(4.4)
  • Skin(4.3)
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 33 34
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia MRPL43 33 34
  • 88.17 (n)
dog
(Canis familiaris)
Mammalia MRPL43 33 34
  • 88.17 (n)
mouse
(Mus musculus)
Mammalia Mrpl43 33 16 34
  • 83.98 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL43 34
  • 62 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL43 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL43 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl43 33
  • 63.79 (n)
Str.1656 33
African clawed frog
(Xenopus laevis)
Amphibia MGC54002 33
zebrafish
(Danio rerio)
Actinopterygii mrpl43 33 34
  • 62.75 (n)
Dr.18076 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11068 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012837 33
  • 55 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpL43 33 34
  • 51.85 (n)
worm
(Caenorhabditis elegans)
Secernentea mrpl-34 33 34
  • 39.19 (n)
Species where no ortholog for MRPL43 was found in the sources mined by GeneCards:
  • 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

Sequence variations from dbSNP and Humsavar for MRPL43 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1024846961 uncertain-significance, Mitochondrial DNA depletion syndrome, Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Spinocerebellar Ataxia, Recessive, Ataxia Neuropathy Spectrum Disorders 100,987,567(-) A/C/T upstream_transcript_variant
rs111033573 pathogenic, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Mitochondrial diseases 100,989,285(-) G/A/T upstream_transcript_variant
rs111033575 pathogenic, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 100,989,154(-) G/A/T upstream_transcript_variant
rs111033576 pathogenic, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 100,989,271(-) G/C upstream_transcript_variant
rs111033577 pathogenic, Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3, Mitochondrial diseases 100,989,352(-) T/C/G upstream_transcript_variant

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

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: HGMD and DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL43

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 MRPL43: view

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

Publications for MRPL43 Gene

  1. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. 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 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for MRPL43 Gene

Sources for MRPL43 Gene

Content
Loading form....