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NDUFA5 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5
Alias_symbol (synonym)B13
NUFM
CI-13KD-B
UQOR13
CI-13kB
Other alias
HGNC (Hugo) NDUFA5
LocusID (NCBI) 4698
Atlas_Id 70758
Location 7q31.32  [Link to chromosome band 7q31]
Location_base_pair Starts at 123177052 and ends at 123197958 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NDUFA5 (7q31.32) / FOXN3 (14q31.3)NDUFA5 (7q31.32) / SND1 (7q32.1)

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)NDUFA5   7688
Cards
Entrez_Gene (NCBI)NDUFA5  4698  NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5
AliasesB13; CI-13KD-B; CI-13kB; NUFM; 
UQOR13
GeneCards (Weizmann)NDUFA5
Ensembl hg19 (Hinxton)ENSG00000128609 [Gene_View]  chr7:123177052-123197958 [Contig_View]  NDUFA5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000128609 [Gene_View]  chr7:123177052-123197958 [Contig_View]  NDUFA5 [Vega]
ICGC DataPortalENSG00000128609
TCGA cBioPortalNDUFA5
AceView (NCBI)NDUFA5
Genatlas (Paris)NDUFA5
WikiGenes4698
SOURCE (Princeton)NDUFA5
Genetics Home Reference (NIH)NDUFA5
Genomic and cartography
GoldenPath hg19 (UCSC)NDUFA5  -     chr7:123177052-123197958 -  7q31.32   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NDUFA5  -     7q31.32   [Description]    (hg38-Dec_2013)
EnsemblNDUFA5 - 7q31.32 [CytoView hg19]  NDUFA5 - 7q31.32 [CytoView hg38]
Mapping of homologs : NCBINDUFA5 [Mapview hg19]  NDUFA5 [Mapview hg38]
OMIM601677   
Gene and transcription
Genbank (Entrez)AK022209 AK315458 AV713284 BC000813 BC020821
RefSeq transcript (Entrez)NM_001282419 NM_001282420 NM_001282421 NM_001282422 NM_001291304 NM_005000
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929332
Consensus coding sequences : CCDS (NCBI)NDUFA5
Cluster EST : UnigeneHs.651219 [ NCBI ]
CGAP (NCI)Hs.651219
Alternative Splicing GalleryENSG00000128609
Gene ExpressionNDUFA5 [ NCBI-GEO ]   NDUFA5 [ EBI - ARRAY_EXPRESS ]   NDUFA5 [ SEEK ]   NDUFA5 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4698
GTEX Portal (Tissue expression)NDUFA5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16718   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16718  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16718
Splice isoforms : SwissVarQ16718
PhosPhoSitePlusQ16718
Domains : Interpro (EBI)ETC_CI_29_9   
Domain families : Pfam (Sanger)ETC_C1_NDUFA5 (PF04716)   
Domain families : Pfam (NCBI)pfam04716   
Conserved Domain (NCBI)NDUFA5
DMDM Disease mutations4698
Blocks (Seattle)NDUFA5
SuperfamilyQ16718
Human Protein AtlasENSG00000128609
Peptide AtlasQ16718
HPRD03398
IPIIPI00554681   IPI00028992   IPI00412545   IPI00946670   IPI00946103   IPI00946474   
Protein Interaction databases
DIP (DOE-UCLA)Q16718
IntAct (EBI)Q16718
FunCoupENSG00000128609
BioGRIDNDUFA5
STRING (EMBL)NDUFA5
ZODIACNDUFA5
Ontologies - Pathways
QuickGOQ16718
Ontology : AmiGOmitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  
Ontology : EGO-EBImitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFA5
Atlas of Cancer Signalling NetworkNDUFA5
Wikipedia pathwaysNDUFA5
Orthology - Evolution
OrthoDB4698
GeneTree (enSembl)ENSG00000128609
Phylogenetic Trees/Animal Genes : TreeFamNDUFA5
HOVERGENQ16718
HOGENOMQ16718
Homologs : HomoloGeneNDUFA5
Homology/Alignments : Family Browser (UCSC)NDUFA5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFA5
dbVarNDUFA5
ClinVarNDUFA5
1000_GenomesNDUFA5 
Exome Variant ServerNDUFA5
ExAC (Exome Aggregation Consortium)NDUFA5 (select the gene name)
Genetic variants : HAPMAP4698
Genomic Variants (DGV)NDUFA5 [DGVbeta]
DECIPHER (Syndromes)7:123177052-123197958  ENSG00000128609
CONAN: Copy Number AnalysisNDUFA5 
Mutations
ICGC Data PortalNDUFA5 
TCGA Data PortalNDUFA5 
Broad Tumor PortalNDUFA5
OASIS PortalNDUFA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFA5
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 NDUFA5
DgiDB (Drug Gene Interaction Database)NDUFA5
DoCM (Curated mutations)NDUFA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFA5 (select a term)
intoGenNDUFA5
Cancer3DNDUFA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601677   
Orphanet
MedgenNDUFA5
Genetic Testing Registry NDUFA5
NextProtQ16718 [Medical]
TSGene4698
GENETestsNDUFA5
Huge Navigator NDUFA5 [HugePedia]
snp3D : Map Gene to Disease4698
BioCentury BCIQNDUFA5
ClinGenNDUFA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4698
Chemical/Pharm GKB GenePA31494
Clinical trialNDUFA5
Miscellaneous
canSAR (ICR)NDUFA5 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFA5
EVEXNDUFA5
GoPubMedNDUFA5
iHOPNDUFA5
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 12:34:41 CET 2017

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