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NDUFS1 (NADH:ubiquinone oxidoreductase core subunit S1)

Identity

Alias_namesNADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)
NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
Alias_symbol (synonym)CI-75k
Other aliasCI-75Kd
PRO1304
HGNC (Hugo) NDUFS1
LocusID (NCBI) 4719
Atlas_Id 70782
Location 2q33.3  [Link to chromosome band 2q33]
Location_base_pair Starts at 206123079 and ends at 206159519 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HLA-DQB2 (6p21.32) / NDUFS1 (2q33.3)NDUFS1 (2q33.3) / ABI1 (10p12.1)NDUFS1 (2q33.3) / EEF1B2 (2q33.3)

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)NDUFS1   7707
Cards
Entrez_Gene (NCBI)NDUFS1  4719  NADH:ubiquinone oxidoreductase core subunit S1
AliasesCI-75Kd; CI-75k; PRO1304
GeneCards (Weizmann)NDUFS1
Ensembl hg19 (Hinxton)ENSG00000023228 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000023228 [Gene_View]  chr2:206123079-206159519 [Contig_View]  NDUFS1 [Vega]
ICGC DataPortalENSG00000023228
TCGA cBioPortalNDUFS1
AceView (NCBI)NDUFS1
Genatlas (Paris)NDUFS1
WikiGenes4719
SOURCE (Princeton)NDUFS1
Genetics Home Reference (NIH)NDUFS1
Genomic and cartography
GoldenPath hg38 (UCSC)NDUFS1  -     chr2:206123079-206159519 -  2q33.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NDUFS1  -     2q33.3   [Description]    (hg19-Feb_2009)
EnsemblNDUFS1 - 2q33.3 [CytoView hg19]  NDUFS1 - 2q33.3 [CytoView hg38]
Mapping of homologs : NCBINDUFS1 [Mapview hg19]  NDUFS1 [Mapview hg38]
OMIM157655   252010   
Gene and transcription
Genbank (Entrez)AA150435 AK098395 AK295705 AK295966 AK295987
RefSeq transcript (Entrez)NM_001199981 NM_001199982 NM_001199983 NM_001199984 NM_005006
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NDUFS1
Cluster EST : UnigeneHs.598436 [ NCBI ]
CGAP (NCI)Hs.598436
Alternative Splicing GalleryENSG00000023228
Gene ExpressionNDUFS1 [ NCBI-GEO ]   NDUFS1 [ EBI - ARRAY_EXPRESS ]   NDUFS1 [ SEEK ]   NDUFS1 [ MEM ]
Gene Expression Viewer (FireBrowse)NDUFS1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4719
GTEX Portal (Tissue expression)NDUFS1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28331   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28331  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28331
Splice isoforms : SwissVarP28331
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 ]   
PhosPhoSitePlusP28331
Domaine pattern : Prosite (Expaxy)2FE2S_FER_2 (PS51085)    4FE4S_MOW_BIS_MGD (PS51669)    COMPLEX1_75K_1 (PS00641)    COMPLEX1_75K_2 (PS00642)    COMPLEX1_75K_3 (PS00643)   
Domains : Interpro (EBI)2Fe-2S_ferredoxin-type    Beta-grasp_dom    Mopterin_OxRdtase    Mopterin_OxRdtase_4Fe-4S_dom    NADH_UbQ_OxRdtase_75kDa_su_CS    NADH_UbQ_OxRdtase_Gsu    NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd    NuoG_C   
Domain families : Pfam (Sanger)Molybdopterin (PF00384)    NADH-G_4Fe-4S_3 (PF10588)    NADH_dhqG_C (PF09326)   
Domain families : Pfam (NCBI)pfam00384    pfam10588    pfam09326   
Domain families : Smart (EMBL)NADH-G_4Fe-4S_3 (SM00929)  
Conserved Domain (NCBI)NDUFS1
DMDM Disease mutations4719
Blocks (Seattle)NDUFS1
SuperfamilyP28331
Human Protein AtlasENSG00000023228
Peptide AtlasP28331
HPRD01145
IPIIPI00940744   IPI00604664   IPI00927225   IPI00927308   IPI00925853   IPI00925023   IPI00924768   IPI00926963   
Protein Interaction databases
DIP (DOE-UCLA)P28331
IntAct (EBI)P28331
FunCoupENSG00000023228
BioGRIDNDUFS1
STRING (EMBL)NDUFS1
ZODIACNDUFS1
Ontologies - Pathways
QuickGOP28331
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial intermembrane space  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  apoptotic mitochondrial changes  electron carrier activity  mitochondrial respiratory chain complex I assembly  myelin sheath  cellular respiration  ATP metabolic process  metal ion binding  2 iron, 2 sulfur cluster binding  4 iron, 4 sulfur cluster binding  regulation of mitochondrial membrane potential  reactive oxygen species metabolic process  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial respiratory chain complex I  mitochondrial intermembrane space  mitochondrial matrix  mitochondrial electron transport, NADH to ubiquinone  mitochondrial electron transport, NADH to ubiquinone  NADH dehydrogenase (ubiquinone) activity  NADH dehydrogenase (ubiquinone) activity  apoptotic mitochondrial changes  electron carrier activity  mitochondrial respiratory chain complex I assembly  myelin sheath  cellular respiration  ATP metabolic process  metal ion binding  2 iron, 2 sulfur cluster binding  4 iron, 4 sulfur cluster binding  regulation of mitochondrial membrane potential  reactive oxygen species metabolic process  
Pathways : KEGGOxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
NDEx NetworkNDUFS1
Atlas of Cancer Signalling NetworkNDUFS1
Wikipedia pathwaysNDUFS1
Orthology - Evolution
OrthoDB4719
GeneTree (enSembl)ENSG00000023228
Phylogenetic Trees/Animal Genes : TreeFamNDUFS1
HOVERGENP28331
HOGENOMP28331
Homologs : HomoloGeneNDUFS1
Homology/Alignments : Family Browser (UCSC)NDUFS1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNDUFS1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NDUFS1
dbVarNDUFS1
ClinVarNDUFS1
1000_GenomesNDUFS1 
Exome Variant ServerNDUFS1
ExAC (Exome Aggregation Consortium)NDUFS1 (select the gene name)
Genetic variants : HAPMAP4719
Genomic Variants (DGV)NDUFS1 [DGVbeta]
DECIPHERNDUFS1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNDUFS1 
Mutations
ICGC Data PortalNDUFS1 
TCGA Data PortalNDUFS1 
Broad Tumor PortalNDUFS1
OASIS PortalNDUFS1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNDUFS1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNDUFS1
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 NDUFS1
DgiDB (Drug Gene Interaction Database)NDUFS1
DoCM (Curated mutations)NDUFS1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NDUFS1 (select a term)
intoGenNDUFS1
Cancer3DNDUFS1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM157655    252010   
Orphanet369    19814   
MedgenNDUFS1
Genetic Testing Registry NDUFS1
NextProtP28331 [Medical]
TSGene4719
GENETestsNDUFS1
Target ValidationNDUFS1
Huge Navigator NDUFS1 [HugePedia]
snp3D : Map Gene to Disease4719
BioCentury BCIQNDUFS1
ClinGenNDUFS1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4719
Chemical/Pharm GKB GenePA31518
Clinical trialNDUFS1
Miscellaneous
canSAR (ICR)NDUFS1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNDUFS1
EVEXNDUFS1
GoPubMedNDUFS1
iHOPNDUFS1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:32:29 CEST 2017

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