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MRPL48 (mitochondrial ribosomal protein L48)

Identity

Alias (NCBI)CGI-118
HSPC290
L48MT
MRP-L48
HGNC (Hugo) MRPL48
HGNC Alias symbCGI-118
LocusID (NCBI) 51642
Atlas_Id 54469
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 73787874 and ends at 73865133 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)
GLI3 (7p14.1)::MRPL48 (11q13.4)MRPL48 (11q13.4)::DTX4 (11q12.1)MRPL48 (11q13.4)::GAB2 (11q14.1)
MRPL48 (11q13.4)::GDPD5 (11q13.4)MRPL48 (11q13.4)::MAGOH (1p32.3)PPME1 (11q13.4)::MRPL48 (11q13.4)
RAB6A (11q13.4)::MRPL48 (11q13.4)STK3 (8q22.2)::MRPL48 (11q13.4)MRPL48 11q13.4::DTX4 11q12.1
MRPL48 11q13.4::GDPD5 11q13.4RAB6A 11q13.4::MRPL48 11q13.4STK3 8q22.2::MRPL48 11q13.4

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)MRPL48   16653
Cards
Entrez_Gene (NCBI)MRPL48    mitochondrial ribosomal protein L48
AliasesCGI-118; HSPC290; L48MT; MRP-L48
GeneCards (Weizmann)MRPL48
Ensembl hg19 (Hinxton)ENSG00000175581 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175581 [Gene_View]  ENSG00000175581 [Sequence]  chr11:73787874-73865133 [Contig_View]  MRPL48 [Vega]
ICGC DataPortalENSG00000175581
TCGA cBioPortalMRPL48
AceView (NCBI)MRPL48
Genatlas (Paris)MRPL48
SOURCE (Princeton)MRPL48
Genetics Home Reference (NIH)MRPL48
Genomic and cartography
GoldenPath hg38 (UCSC)MRPL48  -     chr11:73787874-73865133 +  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MRPL48  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathMRPL48 - 11q13.4 [CytoView hg19]  MRPL48 - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000175581
Genome Data Viewer NCBIMRPL48 [Mapview hg19]  
OMIM611853   
Gene and transcription
Genbank (Entrez)AF151876 AF161408 AK297746 AK309219 AK310005
RefSeq transcript (Entrez)NM_001030046 NM_001318498 NM_001318499 NM_001318500 NM_016055
Consensus coding sequences : CCDS (NCBI)MRPL48
Gene ExpressionMRPL48 [ NCBI-GEO ]   MRPL48 [ EBI - ARRAY_EXPRESS ]   MRPL48 [ SEEK ]   MRPL48 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL48 [ Firebrowse - Broad ]
GenevisibleExpression of MRPL48 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51642
GTEX Portal (Tissue expression)MRPL48
Human Protein AtlasENSG00000175581-MRPL48 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96GC5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96GC5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96GC5
PhosPhoSitePlusQ96GC5
Domains : Interpro (EBI)Ribosomal_L48    Ribosomal_S10_dom    Ribosomal_S10_dom_sf   
Domain families : Pfam (Sanger)Ribosomal_S10 (PF00338)   
Domain families : Pfam (NCBI)pfam00338   
Domain families : Smart (EMBL)Ribosomal_S10 (SM01403)  
Conserved Domain (NCBI)MRPL48
PDB (RSDB)3J7Y    3J9M    5OOL    5OOM    6I9R    6NU2    6NU3    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
PDB Europe3J7Y    3J9M    5OOL    5OOM    6I9R    6NU2    6NU3    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
PDB (PDBSum)3J7Y    3J9M    5OOL    5OOM    6I9R    6NU2    6NU3    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
PDB (IMB)3J7Y    3J9M    5OOL    5OOM    6I9R    6NU2    6NU3    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
Structural Biology KnowledgeBase3J7Y    3J9M    5OOL    5OOM    6I9R    6NU2    6NU3    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
SCOP (Structural Classification of Proteins)3J7Y    3J9M    5OOL    5OOM    6I9R    6NU2    6NU3    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
CATH (Classification of proteins structures)3J7Y    3J9M    5OOL    5OOM    6I9R    6NU2    6NU3    6VLZ    6VMI    6ZS9    6ZSA    6ZSB    6ZSC    6ZSD    6ZSE    6ZSG   
SuperfamilyQ96GC5
AlphaFold pdb e-kbQ96GC5   
Human Protein Atlas [tissue]ENSG00000175581-MRPL48 [tissue]
HPRD14767
Protein Interaction databases
DIP (DOE-UCLA)Q96GC5
IntAct (EBI)Q96GC5
BioGRIDMRPL48
STRING (EMBL)MRPL48
ZODIACMRPL48
Ontologies - Pathways
QuickGOQ96GC5
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial ribosome  mitochondrial large ribosomal subunit  mitochondrial translational elongation  mitochondrial translational termination  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial ribosome  mitochondrial ribosome  mitochondrial large ribosomal subunit  mitochondrial translational elongation  mitochondrial translational termination  
NDEx NetworkMRPL48
Atlas of Cancer Signalling NetworkMRPL48
Wikipedia pathwaysMRPL48
Orthology - Evolution
OrthoDB51642
GeneTree (enSembl)ENSG00000175581
Phylogenetic Trees/Animal Genes : TreeFamMRPL48
Homologs : HomoloGeneMRPL48
Homology/Alignments : Family Browser (UCSC)MRPL48
Gene fusions - Rearrangements
Fusion : MitelmanMRPL48::DTX4 [11q13.4/11q12.1]  
Fusion : MitelmanMRPL48::GDPD5 [11q13.4/11q13.4]  
Fusion : MitelmanPPME1::MRPL48 [11q13.4/11q13.4]  
Fusion : MitelmanRAB6A::MRPL48 [11q13.4/11q13.4]  
Fusion : MitelmanSTK3::MRPL48 [8q22.2/11q13.4]  
Fusion : QuiverMRPL48
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL48
dbVarMRPL48
ClinVarMRPL48
MonarchMRPL48
1000_GenomesMRPL48 
Exome Variant ServerMRPL48
GNOMAD BrowserENSG00000175581
Varsome BrowserMRPL48
ACMGMRPL48 variants
VarityQ96GC5
Genomic Variants (DGV)MRPL48 [DGVbeta]
DECIPHERMRPL48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMRPL48 
Mutations
ICGC Data PortalMRPL48 
TCGA Data PortalMRPL48 
Broad Tumor PortalMRPL48
OASIS PortalMRPL48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL48  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DMRPL48
Mutations and Diseases : HGMDMRPL48
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaMRPL48
DgiDB (Drug Gene Interaction Database)MRPL48
DoCM (Curated mutations)MRPL48
CIViC (Clinical Interpretations of Variants in Cancer)MRPL48
Cancer3DMRPL48
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611853   
Orphanet
DisGeNETMRPL48
MedgenMRPL48
Genetic Testing Registry MRPL48
NextProtQ96GC5 [Medical]
GENETestsMRPL48
Target ValidationMRPL48
Huge Navigator MRPL48 [HugePedia]
ClinGenMRPL48
Clinical trials, drugs, therapy
MyCancerGenomeMRPL48
Protein Interactions : CTDMRPL48
Pharm GKB GenePA30980
PharosQ96GC5
Clinical trialMRPL48
Miscellaneous
canSAR (ICR)MRPL48
HarmonizomeMRPL48
ARCHS4MRPL48
DataMed IndexMRPL48
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXMRPL48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:23:18 CET 2022

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