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MRPL44 (mitochondrial ribosomal protein L44)

Identity

Alias_namesmitochondrial
Alias_symbol (synonym)FLJ12701
FLJ13990
Other aliasCOXPD16
L44MT
MRP-L44
HGNC (Hugo) MRPL44
LocusID (NCBI) 65080
Atlas_Id 55168
Location 2q36.1  [Link to chromosome band 2q36]
Location_base_pair Starts at 224822121 and ends at 224832431 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MRPL44 (2q36.1) / C2 (6p21.33)

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)MRPL44   16650
Cards
Entrez_Gene (NCBI)MRPL44  65080  mitochondrial ribosomal protein L44
AliasesCOXPD16; L44MT; MRP-L44
GeneCards (Weizmann)MRPL44
Ensembl hg19 (Hinxton)ENSG00000135900 [Gene_View]  chr2:224822121-224832431 [Contig_View]  MRPL44 [Vega]
Ensembl hg38 (Hinxton)ENSG00000135900 [Gene_View]  chr2:224822121-224832431 [Contig_View]  MRPL44 [Vega]
ICGC DataPortalENSG00000135900
TCGA cBioPortalMRPL44
AceView (NCBI)MRPL44
Genatlas (Paris)MRPL44
WikiGenes65080
SOURCE (Princeton)MRPL44
Genetics Home Reference (NIH)MRPL44
Genomic and cartography
GoldenPath hg19 (UCSC)MRPL44  -     chr2:224822121-224832431 +  2q36.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MRPL44  -     2q36.1   [Description]    (hg38-Dec_2013)
EnsemblMRPL44 - 2q36.1 [CytoView hg19]  MRPL44 - 2q36.1 [CytoView hg38]
Mapping of homologs : NCBIMRPL44 [Mapview hg19]  MRPL44 [Mapview hg38]
OMIM611849   615395   
Gene and transcription
Genbank (Entrez)AA814344 AK022763 AK024052 AK095007 AL703412
RefSeq transcript (Entrez)NM_022915
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)MRPL44
Cluster EST : UnigeneHs.203559 [ NCBI ]
CGAP (NCI)Hs.203559
Alternative Splicing GalleryENSG00000135900
Gene ExpressionMRPL44 [ NCBI-GEO ]   MRPL44 [ EBI - ARRAY_EXPRESS ]   MRPL44 [ SEEK ]   MRPL44 [ MEM ]
Gene Expression Viewer (FireBrowse)MRPL44 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65080
GTEX Portal (Tissue expression)MRPL44
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H9J2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H9J2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H9J2
Splice isoforms : SwissVarQ9H9J2
Catalytic activity : Enzyme3.1.26.- [ Enzyme-Expasy ]   3.1.26.-3.1.26.- [ IntEnz-EBI ]   3.1.26.- [ BRENDA ]   3.1.26.- [ KEGG ]   
PhosPhoSitePlusQ9H9J2
Domaine pattern : Prosite (Expaxy)DS_RBD (PS50137)   
Domains : Interpro (EBI)dsRBD_dom    RNase_III_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)RIBOc (SM00535)  
Conserved Domain (NCBI)MRPL44
DMDM Disease mutations65080
Blocks (Seattle)MRPL44
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   
SuperfamilyQ9H9J2
Human Protein AtlasENSG00000135900
Peptide AtlasQ9H9J2
HPRD14763
IPIIPI00009680   
Protein Interaction databases
DIP (DOE-UCLA)Q9H9J2
IntAct (EBI)Q9H9J2
FunCoupENSG00000135900
BioGRIDMRPL44
STRING (EMBL)MRPL44
ZODIACMRPL44
Ontologies - Pathways
QuickGOQ9H9J2
Ontology : AmiGOdouble-stranded RNA binding  ribonuclease III activity  protein binding  cellular_component  nucleus  mitochondrial inner membrane  ribosome  production of siRNA involved in RNA interference  primary miRNA processing  pre-miRNA processing  poly(A) RNA binding  mitochondrial translational elongation  mitochondrial translational elongation  mitochondrial translational termination  RNA phosphodiester bond hydrolysis, endonucleolytic  
Ontology : EGO-EBIdouble-stranded RNA binding  ribonuclease III activity  protein binding  cellular_component  nucleus  mitochondrial inner membrane  ribosome  production of siRNA involved in RNA interference  primary miRNA processing  pre-miRNA processing  poly(A) RNA binding  mitochondrial translational elongation  mitochondrial translational elongation  mitochondrial translational termination  RNA phosphodiester bond hydrolysis, endonucleolytic  
NDEx NetworkMRPL44
Atlas of Cancer Signalling NetworkMRPL44
Wikipedia pathwaysMRPL44
Orthology - Evolution
OrthoDB65080
GeneTree (enSembl)ENSG00000135900
Phylogenetic Trees/Animal Genes : TreeFamMRPL44
HOVERGENQ9H9J2
HOGENOMQ9H9J2
Homologs : HomoloGeneMRPL44
Homology/Alignments : Family Browser (UCSC)MRPL44
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMRPL44 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MRPL44
dbVarMRPL44
ClinVarMRPL44
1000_GenomesMRPL44 
Exome Variant ServerMRPL44
ExAC (Exome Aggregation Consortium)MRPL44 (select the gene name)
Genetic variants : HAPMAP65080
Genomic Variants (DGV)MRPL44 [DGVbeta]
DECIPHER (Syndromes)2:224822121-224832431  ENSG00000135900
CONAN: Copy Number AnalysisMRPL44 
Mutations
ICGC Data PortalMRPL44 
TCGA Data PortalMRPL44 
Broad Tumor PortalMRPL44
OASIS PortalMRPL44 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMRPL44  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMRPL44
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 MRPL44
DgiDB (Drug Gene Interaction Database)MRPL44
DoCM (Curated mutations)MRPL44 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MRPL44 (select a term)
intoGenMRPL44
Cancer3DMRPL44(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611849    615395   
Orphanet22078   
MedgenMRPL44
Genetic Testing Registry MRPL44
NextProtQ9H9J2 [Medical]
TSGene65080
GENETestsMRPL44
Huge Navigator MRPL44 [HugePedia]
snp3D : Map Gene to Disease65080
BioCentury BCIQMRPL44
ClinGenMRPL44
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65080
Chemical/Pharm GKB GenePA30976
Clinical trialMRPL44
Miscellaneous
canSAR (ICR)MRPL44 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMRPL44
EVEXMRPL44
GoPubMedMRPL44
iHOPMRPL44
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 13:17:23 CET 2017

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