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NDUFS1 Gene

protein-coding   GIFtS: 66
GCID: GC02M206986

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1, 75kDa (NADH-Coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1, 75kDa (NADH-Coenzyme Q
Reductase)1 2
     Complex I, Mitochondrial Respiratory Chain, 75-KD Subunit2
Complex I 75kDa Subunit1 2     Mitochondrial NADH-Ubiquinone Oxidoreductase 75 KDa Subunit2
mitochondrial1     NADH-Ubiquinone Oxidoreductase 75 KDa Subunit, Mitochondrial2
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1 (75kD) (NADH-Coenzyme Q
Reductase)1
     CI-75kD3
NADH-Ubiquinone Oxidoreductase 75 KDa Subunit1     EC 1.6.5.33
CI-75Kd2     EC 1.6.99.33
CI-75k2     Complex I-75kD3
PRO13042     

External Ids:    HGNC: 77071   Entrez Gene: 47192   Ensembl: ENSG000000232287   OMIM: 1576555   UniProtKB: P283313   

Export aliases for NDUFS1 gene to outside databases

Previous GC identifers: GC02M205205 GC02M205712 GC02M206950 GC02M207188 GC02M207190 GC02M206813 GC02M206695 GC02M198836


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NDUFS1 Gene:
The protein encoded by this gene belongs to the complex I 75 kDa subunit family. Mammalian complex I is composed
of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase
activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate
electron acceptor for the enzyme is believed to be ubiquinone. This protein is the largest subunit of complex I
and it is a component of the iron-sulfur (IP) fragment of the enzyme. It may form part of the active site crevice
where NADH is oxidized. Mutations in this gene are associated with complex I deficiency. Several transcript
variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jan 2011)

GeneCards Summary for NDUFS1 Gene:
NDUFS1 (NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)) is a protein-coding gene. Diseases associated with NDUFS1 include progressive cavitating leukoencephalopathy, and leigh syndrome with leukodystrophy. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and electron carrier activity.

UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331
Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of
electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be
ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur
(IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized

Gene Wiki entry for NDUFS1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFS1 gene promoter:
         C/EBPbeta   Elk-1   Brachyury   STAT5A   C/EBPalpha   AREB6   CHOP-10   POU2F1   POU2F1a   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFS1 promoter sequence
   Search Chromatin IP Primers for NDUFS1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFS1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33-q34   Ensembl cytogenetic band:  2q33.3   HGNC cytogenetic band: 2q33-q34

NDUFS1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M206986:  view genomic region     (about GC identifiers)

Start:
206,979,541 bp from pter      End:
207,024,327 bp from pter
Size:
44,787 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331 (See protein sequence)
Recommended Name: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial precursor  
Size: 727 amino acids; 79468 Da
Cofactor: Binds 1 2Fe-2S cluster per subunit (By similarity)
Cofactor: Binds 2 4Fe-4S clusters per subunit (By similarity)
Subunit: Complex I is composed of 45 different subunits
Secondary accessions: B4DIN9 B4DJA0 B4DPG1 B4DUC1 E7ENF3 Q53TR8 Q8N1C4 Q8TCC9
Alternative splicing: 5 isoforms:  P28331-1   P28331-2   P28331-3   P28331-4   P28331-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NDUFS1: NX_P28331

Explore proteomics data for NDUFS1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys499
  • Modification sites at PhosphoSitePlus

  • See NDUFS1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001186910.1  NP_001186911.1  NP_001186912.1  NP_001186913.1  NP_004997.4  

    ENSEMBL proteins: 
     ENSP00000233190   ENSP00000397760   ENSP00000400976   ENSP00000409766   ENSP00000399912  
     ENSP00000409689   ENSP00000395553   ENSP00000389413   ENSP00000392709  
    Reactome Protein details: P28331

    NDUFS1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    comI: Mitochondrial respiratory chain complex / Complex I

    Selected InterPro protein domains (see all 8):
     IPR006656 Mopterin_OxRdtase
     IPR012675 Beta-grasp_dom
     IPR015405 NuoG_C
     IPR006963 Mopterin_OxRdtase_4Fe-4S_dom
     IPR010228 NADH_UbQ_OxRdtase_Gsu

    Graphical View of Domain Structure for InterPro Entry P28331

    ProtoNet protein and cluster: P28331

    2 Blocks protein domains:
    IPB000283 Respiratory-chain NADH dehydrogenase 75 kDa subunit
    IPB001041 Ferredoxin


    UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331
    Similarity: Belongs to the complex I 75 kDa subunit family
    Similarity: Contains 1 2Fe-2S ferredoxin-type domain
    Similarity: Contains 1 4Fe-4S Mo/W bis-MGD-type domain


    NDUFS1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUS1_HUMAN, P28331
    Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
    believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of
    electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be
    ubiquinone (By similarity). This is the largest subunit of complex I and it is a component of the iron-sulfur
    (IP) fragment of the enzyme. It may form part of the active site crevice where NADH is oxidized
    Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
    Catalytic activity: NADH + acceptor = NAD(+) + reduced acceptor

         Genatlas biochemistry entry for NDUFS1:
    NADH ubiquinone dehydrogenase (Q reductase),75kDa,component of the complex I multi-subunit enzyme of the oxidative
    phosphorylation (OXPHOS),iron-sulfur protein 1,inner mitochondrial membrane

         Enzyme Numbers (IUBMB): EC 1.6.99.31 EC 1.6.5.31

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15186778
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0009055electron carrier activity NAS1935949
    GO:0016491oxidoreductase activity ----
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
         
    NDUFS1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Ndufs1 (no phenotypes)

    NDUFS1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NDUFS1
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    miRNA
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    Block miRNA regulation of human, mouse, rat NDUFS1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate NDUFS1:
    hsa-miR-3671 hsa-miR-548a-3p hsa-miR-607 hsa-miR-3662 hsa-miR-548e hsa-miR-32* hsa-miR-548aa hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidNDUFS1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NDUFS1

    Gene Editing
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NDUS1_HUMAN, P28331: Mitochondrion inner membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0005758mitochondrial intermembrane space IDA15186778
    GO:0016020membrane ----

    NDUFS1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NDUFS1 About                                                                                                See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.57
    Respiratory electron transport0.81
    Oxidative phosphorylation0.51
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44
    4Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFS1
        Oxidative phosphorylation
    Electron Transport Chain


    1 Reactome Pathway for NDUFS1
        Respiratory electron transport

    1 PharmGKB Pathway for NDUFS1
        Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for NDUFS1) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFS1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFS1: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFS1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NDUFS1 (P283312, 3 ENSP000002331904) via UniProtKB, MINT, STRING, and/or I2D (see all 326)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    CASP3P425743, ENSP000003110324I2D: score=3 STRING: ENSP00000311032
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0008637apoptotic mitochondrial changes IDA15186778
    GO:0022904respiratory electron transport chain TAS--
    GO:0042773ATP synthesis coupled electron transport ----
    GO:0044237cellular metabolic process TAS--

    NDUFS1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NDUFS1 (NDUS1)

    9 HMDB Compounds for NDUFS1    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for NDUFS1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NDUFS1 gene (5 alternative transcripts): 
    NM_001199981.1  NM_001199982.1  NM_001199983.1  NM_001199984.1  NM_005006.6  

    Unigene Cluster for NDUFS1:

    NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
    Hs.471207  [show with all ESTs]
    Unigene Representative Sequence: BC030833
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000233190(uc010ziq.2 uc002vbe.3 uc010zir.2 uc010zis.2 uc010zit.2 uc010ziu.2)
    ENST00000423725 ENST00000457011 ENST00000440274 ENST00000449699 ENST00000432169
    ENST00000498520 ENST00000456284 ENST00000454195 ENST00000455934

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    8 qRT-PCR Assays for microRNAs that regulate NDUFS1:
    hsa-miR-3671 hsa-miR-548a-3p hsa-miR-607 hsa-miR-3662 hsa-miR-548e hsa-miR-32* hsa-miR-548aa hsa-miR-1305
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    Additional mRNA sequence: 

    AK098395.1 AK295705.1 AK295966.1 AK295987.1 AK298320.1 AK300585.1 BC004133.2 BC012068.1 
    BC018900.1 BC022368.1 BC030833.1 BC113969.1 X61100.1 

    12 DOTS entries:

    DT.75192845  DT.100784130  DT.100784127  DT.91748760  DT.100784128  DT.121012994  DT.40118273  DT.92052606 
    DT.40293385  DT.121012946  DT.121012971  DT.97816121 

    Selected AceView cDNA sequences (see all 262):

    BM720446 BE301761 BQ882763 BM468661 BC012068 AA255456 BM977881 CK904910 
    BU149717 BU849955 AI244281 BQ683579 AW778802 BU196013 AW014543 AA470789 
    BU624022 AJ708884 BQ226443 BE018284 AW614813 BQ001746 BM920647 AA406536 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                                                                                                          -                           
    SP2:                          -     -     -     -     -     -     -                                                           -                           
    SP3:              -     -     -     -     -                                                                                                               
    SP4:                                                                                                                                                      


    ECgene alternative splicing isoforms for NDUFS1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NDUFS1 expression in normal human tissues (normalized intensities)      NDUFS1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTGTGTGT
    NDUFS1 Expression
    About this image


    NDUFS1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
    NDUFS1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFS1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.471207
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFS1: 
              Mitochondrial Energy Metabolism in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for NDUFS1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufs11 , 5 NADH dehydrogenase (ubiquinone) Fe-S protein 11, 5 90.74(n)1
    94.09(a)1
      1 (32.29 cM)5
    2271971  NM_001160038.11  NP_001153510.11 
     631435965 
    chicken
    (Gallus gallus)
    Aves NDUFS11 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa more 78.82(n)
    86.8(a)
      424102  NM_001006518.1  NP_001006518.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS16
    NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75...
    87(a)
    1 ↔ 1
    GL343208.1(652235-677898)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC049394.12   -- 77.3(n)    BC049394.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb33h052 Transcribed sequence with moderate similarity to protein more 78.22(n)    CF265860.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ND751 , 3 oxidative phosphorylation, NADH to
    ubiquinone more3
    NADH:ubiquinone reductase 75kD subunit precursor1
    60(a)3
    57.61(n)1
    63.73(a)1
      1 7E13
    317621  NM_078528.21  NP_511083.11 
    worm
    (Caenorhabditis elegans)
    Secernentea nuo-51 nuo-5 58.59(n)
    59.35(a)
      178735  NM_071332.5  NP_503733.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons EMB14671 EMB1467 58.54(n)
    55.8(a)
      833729  NM_123110.2  NP_568550.1 
    rice
    (Oryza sativa)
    Liliopsida Os.121172 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 74.98(n)    AK071307.1 


    ENSEMBL Gene Tree for NDUFS1 (if available)
    TreeFam Gene Tree for NDUFS1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NDUFS1 (see all 964)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195334
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0195332 D G mis40--------
    VAR_0195324
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0195322 R W mis40--------
    rs1994222241,2
    Cpathogenic1206400282(-) CATTGA/GTGTAA 10 D G mis10--------
    rs1994222251,2
    Cpathogenic1206402192(-) CTGCCC/TGGCCT 10 R W mis10--------
    rs1994222261,2
    Cpathogenic1206402222(-) GTGCCC/GTAACC 10 L V mis10--------
    rs58380111,2
    C,F--198838348(+) CCCCTT/-CAGCC 5 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs41477291,2
    C,F--198851987(-) GCTTTT/-AACAT 5 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs677948031,2
    C--198857242(+) CCCCC-/TTTCAT 5 -- int10--------
    rs2018590651,2
    --206377913(+) AAAAA-/GAAAAA 5 -- ds50010--------
    rs760050831,2
    --206377914(+) AAAAAA/GAAAAA 5 -- ds50013Minor allele frequency- G:0.37CSA NA EA 242

    HapMap Linkage Disequilibrium report for NDUFS1 (206979541 - 207024327 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for NDUFS1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664428CNV Deletion23128226
    nsv875735CNV Gain21882294
    nsv875737CNV Gain21882294
    nsv821884CNV Gain20364138
    nsv821885CNV Gain20364138
    nsv875736CNV Gain+Loss21882294

    Human Gene Mutation Database (HGMD): NDUFS1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFS1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFS1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 157655   
    OMIM disorders: 252010  
    UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory
    chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset
    neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific
    encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and
    some forms of Parkinson disease. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20 diseases for NDUFS1:    About MalaCards
    progressive cavitating leukoencephalopathy    leigh syndrome with leukodystrophy    mitochondrial complex i deficiency    leber hereditary optic neuropathy
    mitochondrial disorders    leukodystrophy    fatty liver disease    neuropathy
    huntington's disease    myopathy    liver disease    parkinson's disease
    schizophrenia    tuberculosis    alzheimer's disease    multiple myeloma
    myeloma    prostate cancer    malaria    prostatitis

    1 disease from the University of Copenhagen DISEASES database for NDUFS1:
    Leigh disease

    NDUFS1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NDUFS1
    Human Genome Epidemiology (HuGE) Navigator: NDUFS1 (5 documents)

    Export disorders for NDUFS1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NDUFS1 gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with NDUFS1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase. (PubMed id 1935949)1, 2, 3 Chow W.... Robinson B.H. (Eur. J. Biochem. 1991)
    2. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. (PubMed id 11349233)1, 2, 9 Benit P....Roetig A. (Am. J. Hum. Genet. 2001)
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    5. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (Mech. Ageing Dev. 2008)
    6. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    7. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (BMC Genet. 2007)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (J. Biol. Chem. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4719 HGNC: 7707 AceView: NDUFS1 Ensembl:ENSG00000023228 euGenes: HUgn4719
    ECgene: NDUFS1 Kegg: 4719 H-InvDB: NDUFS1

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NDUFS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NDUFS1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFS1 gene:
    Search GeneIP for patents involving NDUFS1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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