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MRPL53 (mitochondrial ribosomal protein L53)

Identity

Other aliasL53MT
HGNC (Hugo) MRPL53
LocusID (NCBI) 116540
Atlas_Id 70467
Location 2p13.1  [Link to chromosome band 2p13]
Location_base_pair Starts at 74471958 and ends at 74472815 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)

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

 


External links

Nomenclature
HGNC (Hugo)MRPL53   16684
Cards
Entrez_Gene (NCBI)MRPL53  116540  mitochondrial ribosomal protein L53
AliasesL53MT
GeneCards (Weizmann)MRPL53
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr2:74471958-74472815 [Contig_View]  MRPL53 [Vega]
TCGA cBioPortalMRPL53
AceView (NCBI)MRPL53
Genatlas (Paris)MRPL53
WikiGenes116540
SOURCE (Princeton)MRPL53
Genetics Home Reference (NIH)MRPL53
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL53  -     chr2:74471958-74472815 -  2p13.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL53  -     2p13.1   [Description]    (hg19-Feb_2009)
EnsemblMRPL53 - 2p13.1 [CytoView hg19]  MRPL53 - 2p13.1 [CytoView hg38]
Mapping of homologs : NCBIMRPL53 [Mapview hg19]  MRPL53 [Mapview hg38]
OMIM611857   
Gene and transcription
Genbank (Entrez)BC012163 BG196300 BQ014848 BQ688110
RefSeq transcript (Entrez)NM_053050
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL53
Cluster EST : UnigeneHs.534527 [ NCBI ]
CGAP (NCI)Hs.534527
Gene ExpressionMRPL53 [ NCBI-GEO ]   MRPL53 [ EBI - ARRAY_EXPRESS ]   MRPL53 [ SEEK ]   MRPL53 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL53 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)116540
GTEX Portal (Tissue expression)MRPL53
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EL3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EL3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EL3
Splice isoforms : SwissVarQ96EL3
PhosPhoSitePlusQ96EL3
Domains : Interpro (EBI)Ribosomal_L53_mit   
Domain families : Pfam (Sanger)MRP_L53 (PF10780)   
Domain families : Pfam (NCBI)pfam10780   
Conserved Domain (NCBI)MRPL53
DMDM Disease mutations116540
Blocks (Seattle)MRPL53
PDB (SRS)3J7Y    3J9M   
PDB (PDBSum)3J7Y    3J9M   
PDB (IMB)3J7Y    3J9M   
PDB (RSDB)3J7Y    3J9M   
Structural Biology KnowledgeBase3J7Y    3J9M   
SCOP (Structural Classification of Proteins)3J7Y    3J9M   
CATH (Classification of proteins structures)3J7Y    3J9M   
SuperfamilyQ96EL3
Peptide AtlasQ96EL3
HPRD14771
IPIIPI00061531   IPI00918013   
Protein Interaction databases
DIP (DOE-UCLA)Q96EL3
IntAct (EBI)Q96EL3
BioGRIDMRPL53
STRING (EMBL)MRPL53
ZODIACMRPL53
Ontologies - Pathways
QuickGOQ96EL3
Ontology : AmiGOprotein binding  mitochondrial inner membrane  mitochondrial large ribosomal subunit  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIprotein binding  mitochondrial inner membrane  mitochondrial large ribosomal subunit  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL53
Atlas of Cancer Signalling NetworkMRPL53
Wikipedia pathwaysMRPL53
Orthology - Evolution
OrthoDB116540
Phylogenetic Trees/Animal Genes : TreeFamMRPL53
HOVERGENQ96EL3
HOGENOMQ96EL3
Homologs : HomoloGeneMRPL53
Homology/Alignments : Family Browser (UCSC)MRPL53
Gene fusions - Rearrangements
Fusion: Tumor Portal MRPL53
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL53 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL53
dbVarMRPL53
ClinVarMRPL53
1000_GenomesMRPL53 
Exome Variant ServerMRPL53
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP116540
Genomic Variants (DGV)MRPL53 [DGVbeta]
DECIPHERMRPL53 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL53 
Mutations
ICGC Data PortalMRPL53 
TCGA Data PortalMRPL53 
Broad Tumor PortalMRPL53
OASIS PortalMRPL53 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL53  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL53
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 MRPL53
DgiDB (Drug Gene Interaction Database)MRPL53
DoCM (Curated mutations)MRPL53 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL53 (select a term)
intoGenMRPL53
Cancer3DMRPL53(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611857   
Orphanet
MedgenMRPL53
Genetic Testing Registry MRPL53
NextProtQ96EL3 [Medical]
TSGene116540
GENETestsMRPL53
Target ValidationMRPL53
Huge Navigator MRPL53 [HugePedia]
snp3D : Map Gene to Disease116540
BioCentury BCIQMRPL53
ClinGenMRPL53
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD116540
Chemical/Pharm GKB GenePA30986
Clinical trialMRPL53
Miscellaneous
canSAR (ICR)MRPL53 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL53
EVEXMRPL53
GoPubMedMRPL53
iHOPMRPL53
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 12:17:52 CET 2017

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