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NDUFA1 (NADH:ubiquinone oxidoreductase subunit A1)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Alias_symbol (synonym)MWFE
CI-MWFE
Other aliasZNF183
HGNC (Hugo) NDUFA1
LocusID (NCBI) 4694
Atlas_Id 41516
Location Xq24  [Link to chromosome band Xq24]
Location_base_pair Starts at 119005734 and ends at 119010629 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NDUFA1 (Xq24) / SPRED2 (2p14)NFATC3 (16q22.1) / NDUFA1 (Xq24)

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)NDUFA1   7683
Cards
Entrez_Gene (NCBI)NDUFA1  4694  NADH:ubiquinone oxidoreductase subunit A1
AliasesCI-MWFE; MWFE; ZNF183
GeneCards (Weizmann)NDUFA1
Ensembl hg19 (Hinxton)ENSG00000125356 [Gene_View]  chrX:119005734-119010629 [Contig_View]  NDUFA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125356 [Gene_View]  chrX:119005734-119010629 [Contig_View]  NDUFA1 [Vega]
ICGC DataPortalENSG00000125356
TCGA cBioPortalNDUFA1
AceView (NCBI)NDUFA1
Genatlas (Paris)NDUFA1
WikiGenes4694
SOURCE (Princeton)NDUFA1
Genetics Home Reference (NIH)NDUFA1
Genomic and cartography
GoldenPath hg19 (UCSC)NDUFA1  -     chrX:119005734-119010629 +  Xq24   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NDUFA1  -     Xq24   [Description]    (hg38-Dec_2013)
EnsemblNDUFA1 - Xq24 [CytoView hg19]  NDUFA1 - Xq24 [CytoView hg38]
Mapping of homologs : NCBINDUFA1 [Mapview hg19]  NDUFA1 [Mapview hg38]
OMIM252010   300078   
Gene and transcription
Genbank (Entrez)AB451304 AB451435 BC000266 BQ680674 CR456889
RefSeq transcript (Entrez)NM_004541
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009381 NG_021227 NT_011786 NW_004929446
Consensus coding sequences : CCDS (NCBI)NDUFA1
Cluster EST : UnigeneHs.534168 [ NCBI ]
CGAP (NCI)Hs.534168
Alternative Splicing GalleryENSG00000125356
Gene ExpressionNDUFA1 [ NCBI-GEO ]   NDUFA1 [ EBI - ARRAY_EXPRESS ]   NDUFA1 [ SEEK ]   NDUFA1 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4694
GTEX Portal (Tissue expression)NDUFA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15239   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15239  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15239
Splice isoforms : SwissVarO15239
PhosPhoSitePlusO15239
Domains : Interpro (EBI)NADH_Ub_cplx-1_asu_su-1   
Domain families : Pfam (Sanger)MWFE (PF15879)   
Domain families : Pfam (NCBI)pfam15879   
Conserved Domain (NCBI)NDUFA1
DMDM Disease mutations4694
Blocks (Seattle)NDUFA1
SuperfamilyO15239
Human Protein AtlasENSG00000125356
Peptide AtlasO15239
HPRD02093
IPIIPI00005695   
Protein Interaction databases
DIP (DOE-UCLA)O15239
IntAct (EBI)O15239
FunCoupENSG00000125356
BioGRIDNDUFA1
STRING (EMBL)NDUFA1
ZODIACNDUFA1
Ontologies - Pathways
QuickGOO15239
Ontology : AmiGOmitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  integral component of membrane  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  
Ontology : EGO-EBImitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  integral component of membrane  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  
Pathways : BIOCARTAElectron Transport Reaction in Mitochondria [Genes]   
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFA1
Atlas of Cancer Signalling NetworkNDUFA1
Wikipedia pathwaysNDUFA1
Orthology - Evolution
OrthoDB4694
GeneTree (enSembl)ENSG00000125356
Phylogenetic Trees/Animal Genes : TreeFamNDUFA1
HOVERGENO15239
HOGENOMO15239
Homologs : HomoloGeneNDUFA1
Homology/Alignments : Family Browser (UCSC)NDUFA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFA1
dbVarNDUFA1
ClinVarNDUFA1
1000_GenomesNDUFA1 
Exome Variant ServerNDUFA1
ExAC (Exome Aggregation Consortium)NDUFA1 (select the gene name)
Genetic variants : HAPMAP4694
Genomic Variants (DGV)NDUFA1 [DGVbeta]
DECIPHER (Syndromes)X:119005734-119010629  ENSG00000125356
CONAN: Copy Number AnalysisNDUFA1 
Mutations
ICGC Data PortalNDUFA1 
TCGA Data PortalNDUFA1 
Broad Tumor PortalNDUFA1
OASIS PortalNDUFA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFA1
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)X-chromosome gene database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NDUFA1
DgiDB (Drug Gene Interaction Database)NDUFA1
DoCM (Curated mutations)NDUFA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFA1 (select a term)
intoGenNDUFA1
Cancer3DNDUFA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM252010    300078   
Orphanet369   
MedgenNDUFA1
Genetic Testing Registry NDUFA1
NextProtO15239 [Medical]
TSGene4694
GENETestsNDUFA1
Huge Navigator NDUFA1 [HugePedia]
snp3D : Map Gene to Disease4694
BioCentury BCIQNDUFA1
ClinGenNDUFA1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4694
Chemical/Pharm GKB GenePA31489
Clinical trialNDUFA1
Miscellaneous
canSAR (ICR)NDUFA1 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFA1
EVEXNDUFA1
GoPubMedNDUFA1
iHOPNDUFA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:18:27 CET 2017

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