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NDUFS3 (NADH:ubiquinone oxidoreductase core subunit S3)

Identity

Other namesCI-30
HGNC (Hugo) NDUFS3
LocusID (NCBI) 4722
Atlas_Id 52504
Location 11p11.2
Location_base_pair Starts at 47600562 and ends at 47606115 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NDUFS3 (11p11.2) / NDUFS3 (11p11.2)NDUFS3 (11p11.2) / PDE4B (1p31.3)NDUFS3 (11p11.2) / SLC26A7 (8q21.3)
REV3L (6q21) / NDUFS3 (11p11.2)TFIP11 (22q12.1) / NDUFS3 (11p11.2)

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)NDUFS3   7710
Cards
Entrez_Gene (NCBI)NDUFS3  4722  NADH:ubiquinone oxidoreductase core subunit S3
AliasesCI-30
GeneCards (Weizmann)NDUFS3
Ensembl hg19 (Hinxton)ENSG00000213619 [Gene_View]  chr11:47600562-47606115 [Contig_View]  NDUFS3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000213619 [Gene_View]  chr11:47600562-47606115 [Contig_View]  NDUFS3 [Vega]
ICGC DataPortalENSG00000213619
TCGA cBioPortalNDUFS3
AceView (NCBI)NDUFS3
Genatlas (Paris)NDUFS3
WikiGenes4722
SOURCE (Princeton)NDUFS3
Genomic and cartography
GoldenPath hg19 (UCSC)NDUFS3  -     chr11:47600562-47606115 +  11p11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NDUFS3  -     11p11.2   [Description]    (hg38-Dec_2013)
EnsemblNDUFS3 - 11p11.2 [CytoView hg19]  NDUFS3 - 11p11.2 [CytoView hg38]
Mapping of homologs : NCBINDUFS3 [Mapview hg19]  NDUFS3 [Mapview hg38]
OMIM252010   256000   603846   
Gene and transcription
Genbank (Entrez)AA477836 AF067139 AF100743 AK223255 AK294167
RefSeq transcript (Entrez)NM_004551
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_011946 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)NDUFS3
Cluster EST : UnigeneHs.502528 [ NCBI ]
CGAP (NCI)Hs.502528
Alternative Splicing GalleryENSG00000213619
Gene ExpressionNDUFS3 [ NCBI-GEO ]   NDUFS3 [ EBI - ARRAY_EXPRESS ]   NDUFS3 [ SEEK ]   NDUFS3 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFS3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4722
GTEX Portal (Tissue expression)NDUFS3
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75489 (Uniprot)
NextProtO75489  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75489
Splice isoforms : SwissVarO75489 (Swissvar)
Catalytic activity : Enzyme1.6.5.3 [ Enzyme-Expasy ]   1.6.5.31.6.5.3 [ IntEnz-EBI ]   1.6.5.3 [ BRENDA ]   1.6.5.3 [ KEGG ]   
PhosPhoSitePlusO75489
Domaine pattern : Prosite (Expaxy)COMPLEX1_30K (PS00542)   
Domains : Interpro (EBI)NADH_DH_suC    NADH_UbQ_OxRdtase_30kDa_su    NADH_UbQ_OxRdtase_CS   
Domain families : Pfam (Sanger)Complex1_30kDa (PF00329)   
Domain families : Pfam (NCBI)pfam00329   
Domain structure : Prodom (Prabi Lyon)NADH_UbQ_OxRdtase_30kDa_su (PD001581)   
DMDM Disease mutations4722
Blocks (Seattle)NDUFS3
SuperfamilyO75489
Human Protein AtlasENSG00000213619
Peptide AtlasO75489
HPRD10355
IPIIPI00025796   IPI00984253   IPI00982902   IPI00982388   IPI00983082   IPI00983169   
Protein Interaction databases
DIP (DOE-UCLA)O75489
IntAct (EBI)O75489
FunCoupENSG00000213619
BioGRIDNDUFS3
STRING (EMBL)NDUFS3
ZODIACNDUFS3
Ontologies - Pathways
QuickGOO75489
Ontology : AmiGONADH dehydrogenase activity  protein binding  nucleus  mitochondrion  mitochondrion  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  substantia nigra development  negative regulation of cell growth  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  myelin sheath  reactive oxygen species metabolic process  negative regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBINADH dehydrogenase activity  protein binding  nucleus  mitochondrion  mitochondrion  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  substantia nigra development  negative regulation of cell growth  mitochondrial membrane  mitochondrial respiratory chain complex I assembly  myelin sheath  reactive oxygen species metabolic process  negative regulation of intrinsic apoptotic signaling pathway  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx Network
Atlas of Cancer Signalling NetworkNDUFS3
Wikipedia pathwaysNDUFS3
Orthology - Evolution
OrthoDB4722
GeneTree (enSembl)ENSG00000213619
Phylogenetic Trees/Animal Genes : TreeFamNDUFS3
Homologs : HomoloGeneNDUFS3
Homology/Alignments : Family Browser (UCSC)NDUFS3
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerNDUFS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFS3
dbVarNDUFS3
ClinVarNDUFS3
1000_GenomesNDUFS3 
Exome Variant ServerNDUFS3
ExAC (Exome Aggregation Consortium)NDUFS3 (select the gene name)
Genetic variants : HAPMAP4722
Genomic Variants (DGV)NDUFS3 [DGVbeta]
Mutations
ICGC Data PortalNDUFS3 
TCGA Data PortalNDUFS3 
Broad Tumor PortalNDUFS3
OASIS PortalNDUFS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFS3 
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 NDUFS3
DgiDB (Drug Gene Interaction Database)NDUFS3
DoCM (Curated mutations)NDUFS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFS3 (select a term)
intoGenNDUFS3
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:47600562-47606115  ENSG00000213619
CONAN: Copy Number AnalysisNDUFS3 
Mutations and Diseases : HGMDNDUFS3
OMIM252010    256000    603846   
MedgenNDUFS3
Genetic Testing Registry NDUFS3
NextProtO75489 [Medical]
TSGene4722
GENETestsNDUFS3
Huge Navigator NDUFS3 [HugePedia]
snp3D : Map Gene to Disease4722
BioCentury BCIQNDUFS3
ClinGenNDUFS3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4722
Chemical/Pharm GKB GenePA31520
Clinical trialNDUFS3
Miscellaneous
canSAR (ICR)NDUFS3 (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFS3
EVEXNDUFS3
GoPubMedNDUFS3
iHOPNDUFS3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat May 28 11:13:24 CEST 2016

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