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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NDUFS1 Gene

protein-coding   GIFtS: 62
GCID: GC02M206986

NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme...)
 Explore 12 diseases affiliated with
NDUFS1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NDUFS1    

Aliases
for NDUFS1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1, 75kDa (NADH-Coenzyme Q
Reductase)1 2
     Mitochondrial NADH-Ubiquinone Oxidoreductase 75 KDa Subunit2
CI-75k1 2     NADH-Ubiquinone Oxidoreductase 75 KDa Subunit, Mitochondrial2
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 1 (75kD) (NADH-Coenzyme Q
Reductase)1
     CI-75kD3
CI-75Kd2     EC 1.6.5.33
PRO13042     EC 1.6.99.33
Complex I 75kDa Subunit2     Complex I-75kD3
Complex I, Mitochondrial Respiratory Chain, 75-KD Subunit2     

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


Summaries
for NDUFS1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NDUFS1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: NDUFS1 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFS1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 206,986,149 bp from pter      End:
 207,024,327 bp from pter
Size:
 38,179 bases      Orientation:
 minus strand

Proteins
for NDUFS1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Mitochondrion inner membrane
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P28331

    • NDUFS1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
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    Uscn Proteins for NDUFS1

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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



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    Protein Domains /
    Families
    for NDUFS1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NDUFS1 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR010228 NADH_UbQ_OxRdtase_Gsu
     IPR019574 NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd
     IPR006656 Mopterin_OxRdtase
     IPR001041 2Fe-2S_ferredoxin-type
     IPR000283 NADH_UbQ_OxRdtase_75kDa_su_CS

    Graphical View of Domain Structure for InterPro Entry P28331

    ProtoNet protein and cluster: P28331

    2 Blocks protein families:
    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


    Function
    for NDUFS1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    Catalytic activity: NADH + ubiquinone = NAD(+) + ubiquinol
    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

    miRNA
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    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 plasmid: NDUFS1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15186778
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0009055electron carrier activity NAS1935949
    GO:0046872metal ion binding IEA--
    GO:0051536iron-sulfur cluster binding ----


    NDUFS1 for ontologies           About GeneDecksing



    Pathways & Interactions
    for NDUFS1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    8/9 pathways (see all 9)
    		Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    		Parkinson's disease0.61
    		Respiratory electron transport0.81
    		Oxidative phosphorylation0.52
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    2Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    3Metformin Pathway, Pharmacodynamic
    		Metformin Pathway, Pharmacodynamic1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 BioSystems Pathways for NDUFS1 
        Electron Transport Chain
    Oxidative phosphorylation

    4        Reactome Pathways for NDUFS1
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport

    1 PharmGKB Pathway for NDUFS1
        Metformin Pathway, Pharmacodynamic

    5         Kegg Pathways  (Kegg details for NDUFS1):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    NDUFS1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFS1

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

    5/303 Interacting proteins for NDUFS1 (P283312, 3 ENSP000002331904) via UniProtKB, MINT, STRING, and/or I2D (see all 303)
    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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0006915apoptotic process IDA15186778
    GO:0022904respiratory electron transport chain TAS--
    GO:0042773ATP synthesis coupled electron transport ----
    GO:0044281small molecule metabolic process TAS--


    NDUFS1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NDUFS1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFS1

    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

    Search CenterWatch for drugs/clinical trials and news about NDUFS1 / NDUS1 

    Transcripts
    for NDUFS1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    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 plasmid: NDUFS1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 

    24/262 AceView cDNA sequences (see all 262):

    AI372076 AA908880 AA782466 NM_005006 N32061 BP338160 BQ001746 BU622037 
    BQ574455 AA643580 CB306738 W02081 BM457919 AI888784 AJ708884 BU624022 
    BM720446 BQ882763 BE301761 BC012068 AA255456 BM468661 BM977881 BU149717 

    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

    Expression
    for NDUFS1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDUFS1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATTGTGTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See NDUFS1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFS1

    SOURCE GeneReport for Unigene cluster: Hs.471207
        SABiosciences Expression via Pathway-Focused PCR Array including NDUFS1: 
              Mitochondrial Energy Metabolism in human mouse rat

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    Orthologs
    for NDUFS1 gene

    (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)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for NDUFS1 gene from 10/34 species (see all 34)    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_145518.21  NP_663493.21 
     631435965 
    chicken
    (Gallus gallus)    		 Aves NDUFS11 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) less 78.82(n)
    86.8(a)    		   424102  NM_001006518.1  NP_001006518.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NDUFS16
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL343208.1(659283-677898)
    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 pirS17854 (H.sapiens) S17854 NADH dehydrogenase (ubiquinone) (EC 1.6.5.3) 75K chain precursor - human less 78.22(n)    CF265860.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta ND751 , 3 oxidative phosphorylation, NADH to
    ubiquinone NADH dehydrogenase (ubiquinone) less3
    NADH:ubiquinone reductase 75kD subunit precursor1    		 60(a)3
    57.53(n)1
    63.35(a)1    		   1 7E13
    317621  NM_078528.21  NP_511083.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea nuo-51 Protein NUO-5 58.79(n)
    59.6(a)    		   178735  NM_071332.4  NP_503733.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons EMB14671 NADH-ubiquinone oxidoreductase subunit 58.59(n)
    55.95(a)    		   833729  NM_123110.2  NP_568550.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.121172 Oryza sativa (japonica cultivar-group) cDNA cloneJ023130E21, full insert sequence less 74.98(n)    AK071307.1 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria nuoG6
    		 NADH:ubiquinone oxidoreductase, chain G
    		 18(a)
    		 1 ↔ 1
    		 Chromosome(2395461-2398187)


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

    Paralogs
    for NDUFS1 gene

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

    Genomic Variants
    for NDUFS1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/679 NCBI SNPs in NDUFS1 are shown (see all 679)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1994222241,2
    		Cpathogenic198858299(-) CATTGA/GTGTAA 10 D G mis10--------
    rs1994222251,2
    		Cpathogenic198860209(-) CTGCCC/TGGCCT 10 R W mis10--------
    rs1994222261,2
    		Cpathogenic198860239(-) GTGCCC/GTAACC 10 L V mis10--------
    rs1119694951,2
    		C,--198836148(+) ACACCG/CAGCTA 5 -- ds50011Minor allele frequency- C:0.50WA 2
    rs67077071,2
    		C,F,H,--198836705(+) ACCTAT/CAGAAT 5 -- ut31 ese37Minor allele frequency- C:0.06NS EA NA WA 530
    rs730657901,2
    		C,--198836864(+) AGATAA/CTACTA 5 -- ut312Minor allele frequency- C:0.04WA 120
    rs770007281,2
    		C,F,--198837039(+) ATTTAC/TCCAGC 5 -- ut311Minor allele frequency- T:0.08WA 118
    rs101988301,2
    		C,F,A,H,--198837182(+) TTTATG/ATTCGT 5 -- ut3117Minor allele frequency- A:0.05NS EA NA WA 1776
    rs1163359191,2
    		C,F,--198837385(+) ACTGCA/CCTACA 5 -- ut311Minor allele frequency- C:0.04WA 118
    rs768399431,2
    		C,--198837583(+) AGCACA/GTACTA 5 -- int12Minor allele frequency- G:0.04WA 120

    HapMap Linkage Disequilibrium report for NDUFS1 (206986149 - 207024327 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NDUFS1: --
    Human Gene Mutation Database (HGMD): NDUFS1

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    Disorders / Diseases
    for NDUFS1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NDUFS1 for disorders           About GeneDecksing

    OMIM gene information: 157655   
    OMIM disorders: 252010  
    UniProtKB/Swiss-Prot: NDUS1_HUMAN, P28331
  • Defects in NDUFS1 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the
    • mitochondrial respiratory chain that causes a wide range of clinical disorders, 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

    12 diseases for NDUFS1:    About MalaCards
    leber hereditary optic neuropathy    mitochondrial complex i deficiency    leigh disease    leukodystrophy
    huntington's disease    neuropathy    parkinson's disease    schizophrenia
    tuberculosis    prostatitis    carcinoma    mycobacterium tuberculosis

    1 disease from the University of Copenhagen DISEASES database for NDUFS1:
    Leigh disease
    Human Genome Epidemiology (HuGE) Navigator: NDUFS1 (5 documents)

    Export disorders for NDUFS1 gene to outside databases

    Publications
    for NDUFS1 gene

    (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)
    About This Section

    PubMed articles for NDUFS1 gene, integrated from 9 sources (see all 44):
    (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. (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. (2001)
    3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    4. 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. (2004)
    5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
    6. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. (PubMed id 16478720)1, 9 Iuso A....Papa S. (2006)
    7. Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q reductase gene (NDUFS1) to 2q33----q34. (PubMed id 1505218)1, 9 Duncan A.M....Robinson B.H. (1992)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration. (PubMed id 22360420)1 Martins-de-Souza D....Bahn S. (2012)
    10. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)

    External Searches for NDUFS1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing NDUFS1 gene

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

    Other Databases showing NDUFS1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NDUFS1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NDUFS1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS1

    Intellectual Property
    for NDUFS1 gene

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

    GeneCards and IP:
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