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NDUFS3 (NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase))

Identity

Other namesCI-30
HGNC (Hugo) NDUFS3
LocusID (NCBI) 4722
Location 11p11.2
Location_base_pair Starts at 47600562 and ends at 47606115 bp from pter ( according to hg19-Feb_2009)
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

External links

Nomenclature
HGNC (Hugo)NDUFS3   7710
Cards
Entrez_Gene (NCBI)NDUFS3  4722  NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
GeneCards (Weizmann)NDUFS3
Ensembl (Hinxton)ENSG00000213619 [Gene_View]  chr11:47600562-47606115 [Contig_View]  NDUFS3 [Vega]
ICGC DataPortalENSG00000213619
cBioPortalNDUFS3
AceView (NCBI)NDUFS3
Genatlas (Paris)NDUFS3
WikiGenes4722
SOURCE (Princeton)NM_004551
Genomic and cartography
GoldenPath (UCSC)NDUFS3  -  11p11.2   chr11:47600562-47606115 +  11p11.2   [Description]    (hg19-Feb_2009)
EnsemblNDUFS3 - 11p11.2 [CytoView]
Mapping of homologs : NCBINDUFS3 [Mapview]
OMIM252010   256000   603846   
Gene and transcription
Genbank (Entrez)AA477836 AF067139 AF100743 AK223255 AK294167
RefSeq transcript (Entrez)NM_004551
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_011946 NT_009237 NW_001838022 NW_004929378
Consensus coding sequences : CCDS (NCBI)NDUFS3
Cluster EST : UnigeneHs.502528 [ NCBI ]
CGAP (NCI)Hs.502528
Alternative Splicing : Fast-db (Paris)GSHG0004806
Alternative Splicing GalleryENSG00000213619
Gene ExpressionNDUFS3 [ NCBI-GEO ]     NDUFS3 [ SEEK ]   NDUFS3 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75489 (Uniprot)
NextProtO75489  [Medical]
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 ]   
Domaine pattern : Prosite (Expaxy)COMPLEX1_30K (PS00542)   
Domains : Interpro (EBI)NADH_DH_suC [organisation]   NADH_UbQ_OxRdtase_30kDa_su [organisation]   NADH_UbQ_OxRdtase_CS [organisation]  
Related proteins : CluSTrO75489
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)O75489
Human Protein AtlasENSG00000213619 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO75489
HPRD10355
IPIIPI00025796   IPI00984253   IPI00982902   IPI00982388   IPI00983082   IPI00983169   
Protein Interaction databases
DIP (DOE-UCLA)O75489
IntAct (EBI)O75489
FunCoupENSG00000213619
BioGRIDNDUFS3
InParanoidO75489
Interologous Interaction database O75489
IntegromeDBNDUFS3
STRING (EMBL)NDUFS3
Ontologies - Pathways
Ontology : AmiGONADH dehydrogenase activity  protein binding  nucleus  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  substantia nigra development  respiratory electron transport chain  negative regulation of cell growth  mitochondrial membrane  cellular metabolic process  small molecule metabolic process  reactive oxygen species metabolic process  negative regulation of intrinsic apoptotic signaling pathway  
Ontology : EGO-EBINADH dehydrogenase activity  protein binding  nucleus  mitochondrion  mitochondrion  mitochondrial inner membrane  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  electron carrier activity  substantia nigra development  respiratory electron transport chain  negative regulation of cell growth  mitochondrial membrane  cellular metabolic process  small molecule metabolic process  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   
Protein Interaction DatabaseNDUFS3
Wikipedia pathwaysNDUFS3
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)NDUFS3
snp3D : Map Gene to Disease4722
SNP (GeneSNP Utah)NDUFS3
SNP : HGBaseNDUFS3
Genetic variants : HAPMAPNDUFS3
Exome VariantNDUFS3
1000_GenomesNDUFS3 
ICGC programENSG00000213619 
Somatic Mutations in Cancer : COSMICNDUFS3 
CONAN: Copy Number AnalysisNDUFS3 
Mutations and Diseases : HGMDNDUFS3
Genomic VariantsNDUFS3  NDUFS3 [DGVbeta]
dbVarNDUFS3
ClinVarNDUFS3
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM252010    256000    603846   
MedgenNDUFS3
GENETestsNDUFS3
Disease Genetic AssociationNDUFS3
Huge Navigator NDUFS3 [HugePedia]  NDUFS3 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneNDUFS3
Homology/Alignments : Family Browser (UCSC)NDUFS3
Phylogenetic Trees/Animal Genes : TreeFamNDUFS3
Chemical/Protein Interactions : CTD4722
Chemical/Pharm GKB GenePA31520
Clinical trialNDUFS3
Cancer Resource (Charite)ENSG00000213619
Other databases
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
CoreMineNDUFS3
iHOPNDUFS3
OncoSearchNDUFS3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jul 30 14:07:20 CEST 2014

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