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NDUFA4 (NDUFA4, mitochondrial complex associated)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4 (9kD, MLRQ)
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
Alias_symbol (synonym)MLRQ
CI-9k
Other aliasCI-MLRQ
HGNC (Hugo) NDUFA4
LocusID (NCBI) 4697
Atlas_Id 70756
Location 7p21.3  [Link to chromosome band 7p21]
Location_base_pair Starts at 10931953 and ends at 10940186 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
DAB1 (1p32.2) / NDUFA4 (7p21.3)NDUFA4 (7p21.3) / RNU5F-1 (1q41)NDUFA4 (7p21.3) / RTN3 (11q13.1)
ZNF81 (Xp11.23) / NDUFA4 (7p21.3)

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)NDUFA4   7687
Cards
Entrez_Gene (NCBI)NDUFA4  4697  NDUFA4, mitochondrial complex associated
AliasesCI-9k; CI-MLRQ; MLRQ
GeneCards (Weizmann)NDUFA4
Ensembl hg19 (Hinxton)ENSG00000189043 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000189043 [Gene_View]  chr7:10931953-10940186 [Contig_View]  NDUFA4 [Vega]
ICGC DataPortalENSG00000189043
TCGA cBioPortalNDUFA4
AceView (NCBI)NDUFA4
Genatlas (Paris)NDUFA4
WikiGenes4697
SOURCE (Princeton)NDUFA4
Genetics Home Reference (NIH)NDUFA4
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFA4  -     chr7:10931953-10940186 -  7p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFA4  -     7p21.3   [Description]    (hg19-Feb_2009)
EnsemblNDUFA4 - 7p21.3 [CytoView hg19]  NDUFA4 - 7p21.3 [CytoView hg38]
Mapping of homologs : NCBINDUFA4 [Mapview hg19]  NDUFA4 [Mapview hg38]
OMIM603833   
Gene and transcription
Genbank (Entrez)AF201077 AK024837 AK130950 BC101794 BC101796
RefSeq transcript (Entrez)NM_002489
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFA4
Cluster EST : UnigeneHs.50098 [ NCBI ]
CGAP (NCI)Hs.50098
Alternative Splicing GalleryENSG00000189043
Gene ExpressionNDUFA4 [ NCBI-GEO ]   NDUFA4 [ EBI - ARRAY_EXPRESS ]   NDUFA4 [ SEEK ]   NDUFA4 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFA4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4697
GTEX Portal (Tissue expression)NDUFA4
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00483   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00483  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00483
Splice isoforms : SwissVarO00483
PhosPhoSitePlusO00483
Domains : Interpro (EBI)B12D   
Domain families : Pfam (Sanger)B12D (PF06522)   
Domain families : Pfam (NCBI)pfam06522   
Conserved Domain (NCBI)NDUFA4
DMDM Disease mutations4697
Blocks (Seattle)NDUFA4
SuperfamilyO00483
Human Protein AtlasENSG00000189043
Peptide AtlasO00483
HPRD04831
IPIIPI00011770   
Protein Interaction databases
DIP (DOE-UCLA)O00483
IntAct (EBI)O00483
FunCoupENSG00000189043
BioGRIDNDUFA4
STRING (EMBL)NDUFA4
ZODIACNDUFA4
Ontologies - Pathways
QuickGOO00483
Ontology : AmiGOcytochrome-c oxidase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex IV  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, cytochrome c to oxygen  NADH dehydrogenase (ubiquinone) activity  protein complex binding  extracellular exosome  hydrogen ion transmembrane transport  
Ontology : EGO-EBIcytochrome-c oxidase activity  protein binding  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex IV  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, cytochrome c to oxygen  NADH dehydrogenase (ubiquinone) activity  protein complex binding  extracellular exosome  hydrogen ion transmembrane transport  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFA4
Atlas of Cancer Signalling NetworkNDUFA4
Wikipedia pathwaysNDUFA4
Orthology - Evolution
OrthoDB4697
GeneTree (enSembl)ENSG00000189043
Phylogenetic Trees/Animal Genes : TreeFamNDUFA4
HOVERGENO00483
HOGENOMO00483
Homologs : HomoloGeneNDUFA4
Homology/Alignments : Family Browser (UCSC)NDUFA4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFA4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFA4
dbVarNDUFA4
ClinVarNDUFA4
1000_GenomesNDUFA4 
Exome Variant ServerNDUFA4
ExAC (Exome Aggregation Consortium)NDUFA4 (select the gene name)
Genetic variants : HAPMAP4697
Genomic Variants (DGV)NDUFA4 [DGVbeta]
DECIPHERNDUFA4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFA4 
Mutations
ICGC Data PortalNDUFA4 
TCGA Data PortalNDUFA4 
Broad Tumor PortalNDUFA4
OASIS PortalNDUFA4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFA4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFA4
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 NDUFA4
DgiDB (Drug Gene Interaction Database)NDUFA4
DoCM (Curated mutations)NDUFA4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFA4 (select a term)
intoGenNDUFA4
Cancer3DNDUFA4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603833   
Orphanet19814   
MedgenNDUFA4
Genetic Testing Registry NDUFA4
NextProtO00483 [Medical]
TSGene4697
GENETestsNDUFA4
Target ValidationNDUFA4
Huge Navigator NDUFA4 [HugePedia]
snp3D : Map Gene to Disease4697
BioCentury BCIQNDUFA4
ClinGenNDUFA4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4697
Chemical/Pharm GKB GenePA31493
Clinical trialNDUFA4
Miscellaneous
canSAR (ICR)NDUFA4 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFA4
EVEXNDUFA4
GoPubMedNDUFA4
iHOPNDUFA4
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 13:31:51 CEST 2017

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