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MRPL47 (mitochondrial ribosomal protein L47)

Identity

Alias_symbol (synonym)CGI-204
NCM1
Other aliasL47mt
MRP-L47
HGNC (Hugo) MRPL47
LocusID (NCBI) 57129
Atlas_Id 70463
Location 3q26.33  [Link to chromosome band 3q26]
Location_base_pair Starts at 179588466 and ends at 179604646 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TRUB2 (9q34.11) / MRPL47 (3q26.33)

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)MRPL47   16652
Cards
Entrez_Gene (NCBI)MRPL47  57129  mitochondrial ribosomal protein L47
AliasesCGI-204; L47mt; MRP-L47; NCM1
GeneCards (Weizmann)MRPL47
Ensembl hg19 (Hinxton)ENSG00000136522 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136522 [Gene_View]  chr3:179588466-179604646 [Contig_View]  MRPL47 [Vega]
ICGC DataPortalENSG00000136522
TCGA cBioPortalMRPL47
AceView (NCBI)MRPL47
Genatlas (Paris)MRPL47
WikiGenes57129
SOURCE (Princeton)MRPL47
Genetics Home Reference (NIH)MRPL47
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL47  -     chr3:179588466-179604646 -  3q26.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL47  -     3q26.33   [Description]    (hg19-Feb_2009)
EnsemblMRPL47 - 3q26.33 [CytoView hg19]  MRPL47 - 3q26.33 [CytoView hg38]
Mapping of homologs : NCBIMRPL47 [Mapview hg19]  MRPL47 [Mapview hg38]
OMIM611852   
Gene and transcription
Genbank (Entrez)AY212270 BC021575 BC032522 CA428787
RefSeq transcript (Entrez)NM_020409 NM_177988
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MRPL47
Cluster EST : UnigeneHs.283734 [ NCBI ]
CGAP (NCI)Hs.283734
Alternative Splicing GalleryENSG00000136522
Gene ExpressionMRPL47 [ NCBI-GEO ]   MRPL47 [ EBI - ARRAY_EXPRESS ]   MRPL47 [ SEEK ]   MRPL47 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL47 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57129
GTEX Portal (Tissue expression)MRPL47
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HD33   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HD33  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HD33
Splice isoforms : SwissVarQ9HD33
PhosPhoSitePlusQ9HD33
Domains : Interpro (EBI)Ribosomal_L47_mit   
Domain families : Pfam (Sanger)MRP-L47 (PF06984)   
Domain families : Pfam (NCBI)pfam06984   
Conserved Domain (NCBI)MRPL47
DMDM Disease mutations57129
Blocks (Seattle)MRPL47
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   
SuperfamilyQ9HD33
Human Protein AtlasENSG00000136522
Peptide AtlasQ9HD33
HPRD14766
IPIIPI00030820   IPI00794978   IPI00375687   
Protein Interaction databases
DIP (DOE-UCLA)Q9HD33
IntAct (EBI)Q9HD33
FunCoupENSG00000136522
BioGRIDMRPL47
STRING (EMBL)MRPL47
ZODIACMRPL47
Ontologies - Pathways
QuickGOQ9HD33
Ontology : AmiGOmolecular_function  structural constituent of ribosome  cellular_component  mitochondrion  mitochondrial inner membrane  mitochondrial large ribosomal subunit  biological_process  mitochondrial translation  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBImolecular_function  structural constituent of ribosome  cellular_component  mitochondrion  mitochondrial inner membrane  mitochondrial large ribosomal subunit  biological_process  mitochondrial translation  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL47
Atlas of Cancer Signalling NetworkMRPL47
Wikipedia pathwaysMRPL47
Orthology - Evolution
OrthoDB57129
GeneTree (enSembl)ENSG00000136522
Phylogenetic Trees/Animal Genes : TreeFamMRPL47
HOVERGENQ9HD33
HOGENOMQ9HD33
Homologs : HomoloGeneMRPL47
Homology/Alignments : Family Browser (UCSC)MRPL47
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL47 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL47
dbVarMRPL47
ClinVarMRPL47
1000_GenomesMRPL47 
Exome Variant ServerMRPL47
ExAC (Exome Aggregation Consortium)MRPL47 (select the gene name)
Genetic variants : HAPMAP57129
Genomic Variants (DGV)MRPL47 [DGVbeta]
DECIPHERMRPL47 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL47 
Mutations
ICGC Data PortalMRPL47 
TCGA Data PortalMRPL47 
Broad Tumor PortalMRPL47
OASIS PortalMRPL47 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL47  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL47
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MRPL47
DgiDB (Drug Gene Interaction Database)MRPL47
DoCM (Curated mutations)MRPL47 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL47 (select a term)
intoGenMRPL47
Cancer3DMRPL47(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611852   
Orphanet
MedgenMRPL47
Genetic Testing Registry MRPL47
NextProtQ9HD33 [Medical]
TSGene57129
GENETestsMRPL47
Target ValidationMRPL47
Huge Navigator MRPL47 [HugePedia]
snp3D : Map Gene to Disease57129
BioCentury BCIQMRPL47
ClinGenMRPL47
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57129
Chemical/Pharm GKB GenePA30979
Clinical trialMRPL47
Miscellaneous
canSAR (ICR)MRPL47 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL47
EVEXMRPL47
GoPubMedMRPL47
iHOPMRPL47
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:31:13 CEST 2017

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