Atlas of Genetics and Cytogenetics in Oncology and Haematology

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MRPL43 (mitochondrial ribosomal protein L43)

Identity

Alias (NCBI)L43mt
MRP-L43
bMRP36a
HGNC (Hugo) MRPL43
HGNC Alias symbbMRP36a
LocusID (NCBI) 84545
Atlas_Id 70459
Location 10q24.31  [Link to chromosome band 10q24]
Location_base_pair Starts at 100981377 and ends at 100987515 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
MRPL43 (10q24.31) / FAM127A (Xq26.3)OSBP2 (22q12.2) / MRPL43 (10q24.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;22)(q24;q12) OSBP2/MRPL43

External links

Nomenclature
HGNC (Hugo)MRPL43   14517
Cards
Entrez_Gene (NCBI)MRPL43    mitochondrial ribosomal protein L43
AliasesL43mt; MRP-L43; bMRP36a
GeneCards (Weizmann)MRPL43
Ensembl hg19 (Hinxton)ENSG00000055950 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000055950 [Gene_View]  ENSG00000055950 [Sequence]  chr10:100981377-100987515 [Contig_View]  MRPL43 [Vega]
ICGC DataPortalENSG00000055950
TCGA cBioPortalMRPL43
AceView (NCBI)MRPL43
Genatlas (Paris)MRPL43
SOURCE (Princeton)MRPL43
Genetics Home Reference (NIH)MRPL43
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL43  -     chr10:100981377-100987515 -  10q24.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL43  -     10q24.31   [Description]    (hg19-Feb_2009)
GoldenPathMRPL43 - 10q24.31 [CytoView hg19]  MRPL43 - 10q24.31 [CytoView hg38]
ImmunoBaseENSG00000055950
genome Data Viewer NCBIMRPL43 [Mapview hg19]  
OMIM611848   
Gene and transcription
Genbank (Entrez)AB049656 AF086122 AK095556 AK291069 AK300237
RefSeq transcript (Entrez)NM_001308396 NM_032112 NM_176792 NM_176793 NM_176794
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL43
Alternative Splicing GalleryENSG00000055950
Gene ExpressionMRPL43 [ NCBI-GEO ]   MRPL43 [ EBI - ARRAY_EXPRESS ]   MRPL43 [ SEEK ]   MRPL43 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL43 [ Firebrowse - Broad ]
GenevisibleExpression of MRPL43 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84545
GTEX Portal (Tissue expression)MRPL43
Human Protein AtlasENSG00000055950-MRPL43 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N983   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N983  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N983
Splice isoforms : SwissVarQ8N983
PhosPhoSitePlusQ8N983
Domains : Interpro (EBI)MRPL43/MRPL51    Ribosome/NADH_DH    Thioredoxin-like_sf   
Domain families : Pfam (Sanger)L51_S25_CI-B8 (PF05047)   
Domain families : Pfam (NCBI)pfam05047   
Domain families : Smart (EMBL)L51_S25_CI-B8 (SM00916)  
Conserved Domain (NCBI)MRPL43
Blocks (Seattle)MRPL43
PDB (RSDB)3J7Y    3J9M    5OOL    5OOM    6NU2    6NU3   
PDB Europe3J7Y    3J9M    5OOL    5OOM    6NU2    6NU3   
PDB (PDBSum)3J7Y    3J9M    5OOL    5OOM    6NU2    6NU3   
PDB (IMB)3J7Y    3J9M    5OOL    5OOM    6NU2    6NU3   
Structural Biology KnowledgeBase3J7Y    3J9M    5OOL    5OOM    6NU2    6NU3   
SCOP (Structural Classification of Proteins)3J7Y    3J9M    5OOL    5OOM    6NU2    6NU3   
CATH (Classification of proteins structures)3J7Y    3J9M    5OOL    5OOM    6NU2    6NU3   
SuperfamilyQ8N983
Human Protein Atlas [tissue]ENSG00000055950-MRPL43 [tissue]
Peptide AtlasQ8N983
HPRD14762
IPIIPI00428285   IPI00428286   IPI00428287   IPI00428288   IPI00428289   IPI00384571   IPI00640672   IPI00334579   IPI00645648   IPI00979816   
Protein Interaction databases
DIP (DOE-UCLA)Q8N983
IntAct (EBI)Q8N983
BioGRIDMRPL43
STRING (EMBL)MRPL43
ZODIACMRPL43
Ontologies - Pathways
QuickGOQ8N983
Ontology : AmiGORNA binding  structural constituent of ribosome  structural constituent of ribosome  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial large ribosomal subunit  mitochondrial large ribosomal subunit  translation  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIRNA binding  structural constituent of ribosome  structural constituent of ribosome  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial large ribosomal subunit  mitochondrial large ribosomal subunit  translation  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL43
Atlas of Cancer Signalling NetworkMRPL43
Wikipedia pathwaysMRPL43
Orthology - Evolution
OrthoDB84545
GeneTree (enSembl)ENSG00000055950
Phylogenetic Trees/Animal Genes : TreeFamMRPL43
HOGENOMQ8N983
Homologs : HomoloGeneMRPL43
Homology/Alignments : Family Browser (UCSC)MRPL43
Gene fusions - Rearrangements
Fusion : QuiverMRPL43
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL43 [hg38]
dbVarMRPL43
ClinVarMRPL43
MonarchMRPL43
1000_GenomesMRPL43 
Exome Variant ServerMRPL43
GNOMAD BrowserENSG00000055950
Varsome BrowserMRPL43
Genomic Variants (DGV)MRPL43 [DGVbeta]
DECIPHERMRPL43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL43 
Mutations
ICGC Data PortalMRPL43 
TCGA Data PortalMRPL43 
Broad Tumor PortalMRPL43
OASIS PortalMRPL43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL43  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMRPL43
Mutations and Diseases : HGMDMRPL43
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MRPL43
DgiDB (Drug Gene Interaction Database)MRPL43
DoCM (Curated mutations)MRPL43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL43 (select a term)
intoGenMRPL43
Cancer3DMRPL43(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611848   
Orphanet
DisGeNETMRPL43
MedgenMRPL43
Genetic Testing Registry MRPL43
NextProtQ8N983 [Medical]
GENETestsMRPL43
Target ValidationMRPL43
Huge Navigator MRPL43 [HugePedia]
ClinGenMRPL43
Clinical trials, drugs, therapy
MyCancerGenomeMRPL43
Protein Interactions : CTD
Pharm GKB GenePA30975
Clinical trialMRPL43
Miscellaneous
canSAR (ICR)MRPL43 (select the gene name)
HarmonizomeMRPL43
DataMed IndexMRPL43
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL43
EVEXMRPL43
GoPubMedMRPL43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:18:01 CET 2020
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