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NDUFA1 Gene

protein-coding   GIFtS: 66
GCID: GC0XP119005

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1, 7.5kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD,...)
  See NDUFA1-related diseases
at  

(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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1, 7.5kDa1 2     1 (7.5kD1
Complex I MWFE Subunit1 2     MWFE)1
NADH:Ubiquinone Oxidoreductase (Complex 1)1 2     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex1
Type I Dehydrogenase1 2     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1 (7.5kD, MWFE)1
Complex I-MWFE2 3     ZNF1832
CI-MWFE2 3     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 12
NADH-Ubiquinone Oxidoreductase MWFE Subunit2 3     NADH Oxidoreductase Subunit MWFE2
MWFE2 5     

External Ids:    HGNC: 76831   Entrez Gene: 46942   Ensembl: ENSG000001253567   OMIM: 3000785   UniProtKB: O152393   
ORGUL members:         

Export aliases for NDUFA1 gene to outside databases

Previous GC identifers: GC0XP113823 GC0XP115991 GC0XP116980 GC0XP117759 GC0XP117758 GC0XP118787 GC0XP118889 GC0XP108498


(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 NDUFA1 Gene:
The human NDUFA1 gene codes for an essential component of complex I of the respiratory chain, which transfers
electrons from NADH to ubiquinone. It has been noted that the N-terminal hydrophobic domain has the potential to
be folded into an alpha-helix spanning the inner mitochondrial membrane with a C-terminal hydrophilic domain
interacting with globular subunits of complex I. The highly conserved two-domain structure suggests that this
feature is critical for the protein function and might act as an anchor for the NADH:ubiquinone oxidoreductase
complex at the inner mitochondrial membrane. However, the NDUFA1 peptide is one of about 31 components of the
'hydrophobic protein' (HP) fraction of complex I which is involved in proton translocation. Thus the NDUFA1
peptide may also participate in that function. (provided by RefSeq, Jul 2008)

GeneCards Summary for NDUFA1 Gene:
NDUFA1 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa) is a protein-coding gene. Diseases associated with NDUFA1 include fanconi anemia, complementation group a, and leber hereditary optic neuropathy. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUA1_HUMAN, O15239
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
is believed not to be involved in 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

Gene Wiki entry for NDUFA1 (NADH dehydrogenase, alpha 1) 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 at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011786.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA1 gene promoter:
         MZF-1   AhR   AML1a   POU2F1a   STAT3   Chx10   C/EBPalpha   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA1 promoter sequence
   Search Chromatin IP Primers for NDUFA1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA1


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

Entrez Gene cytogenetic band: Xq24   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq24

NDUFA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP119005:  view genomic region     (about GC identifiers)

Start:
119,005,450 bp from pter      End:
119,010,629 bp from pter
Size:
5,180 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NDUA1_HUMAN, O15239 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 1  
Size: 70 amino acids; 8072 Da
Subunit: Complex I is composed of 45 different subunits

Explore the universe of human proteins at neXtProt for NDUFA1: NX_O15239

Explore proteomics data for NDUFA1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys64
  • Modification sites at PhosphoSitePlus

  • See NDUFA1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004532.1  
    ENSEMBL proteins: 
     ENSP00000360492  
    Reactome Protein details: O15239

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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

    1 InterPro protein domain:
     IPR017384 NADH_Ub_cplx-1_asu_su-1

    Graphical View of Domain Structure for InterPro Entry O15239

    ProtoNet protein and cluster: O15239

    UniProtKB/Swiss-Prot: NDUA1_HUMAN, O15239
    Similarity: Belongs to the complex I NDUFA1 subunit family


    Find genes that share domains with NDUFA1           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NDUA1_HUMAN, O15239
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
    is believed not to be involved in 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

         Genatlas biochemistry entry for NDUFA1:
    NADH ubiquinone oxidoreductase (Q reductase),7.5kDa,component alpha 1,hydrophobic fraction of the complex I
    multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),homologous to bovine MWFE subunit of complex I
    essential for an active complex I,not mutated in complex I deficiency

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
         
    Find genes that share ontologies with NDUFA1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NDUFA1:
     Increased gamma-H2AX phosphory 

    Animal Models:
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    (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
    NDUA1_HUMAN, O15239: Mitochondrion inner membrane; Single-pass membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    chloroplast2
    extracellular2
    nucleus2
    cytosol1
    endoplasmic reticulum1
    lysosome1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16729965
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0016021integral component of membrane IEA--
    GO:0031966mitochondrial membrane IDA17209039

    Find genes that share ontologies with NDUFA1           About GenesLikeMe


    (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 NDUFA1 About    
    See pathways by source

    SuperPathContained pathways About
    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
    Oxidative phosphorylation0.64
    Respiratory electron transport0.81
    Parkinson's disease0.57
    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


    Find genes that share SuperPaths with NDUFA1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NDUFA1
        Electron Transport Chain

    1 Reactome Pathway for NDUFA1
        Respiratory electron transport

    1 PharmGKB Pathway for NDUFA1
        Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for NDUFA1) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA1: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFA1

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

    Selected Interacting proteins for NDUFA1 (O152392, 3 ENSP000003604924) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503590 MINT-6503500 I2D: score=1 STRING: ENSP00000363390
    GOLGB1Q147892, 3, ENSP000003418484MINT-64177 I2D: score=4 STRING: ENSP00000341848
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6503960 I2D: score=1 STRING: ENSP00000262435
    NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
    CYC1ENSP000003171594STRING: ENSP00000317159
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NDUFA1           About GenesLikeMe



    (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
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    Browse Tocris compounds for NDUFA1 (NDUA1)

    8 HMDB Compounds for NDUFA1    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--
    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 NDUFA1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--10200266 17139284 17016423 11864782



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NDUFA1 gene: 
    NM_004541.3  

    Unigene Cluster for NDUFA1:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
    Hs.534168  [show with all ESTs]
    Unigene Representative Sequence: BM918631
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000371437(uc004esc.4)
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    Additional mRNA sequence: 

    AB451304.1 AB451435.1 BC000266.1 CR456889.1 U54993.1 X81900.1 

    15 DOTS entries:

    DT.99986836  DT.100825944  DT.100037510  DT.213460  DT.121289720  DT.121289715  DT.100037503  DT.100037507 
    DT.100806384  DT.121289726  DT.95196356  DT.95196360  DT.102838330  DT.111759  DT.91984375 

    Selected AceView cDNA sequences (see all 359):

    BG168006 AI094296 AA480758 AA854729 W78821 AA111999 BQ680674 AI185143 
    F18441 F28667 F36176 AJ711564 F29786 AA977792 AV684854 F30055 
    BQ064603 F27797 AA024816 BM785536 AI198200 AI498271 AA813106 W16620 

    GeneLoc Exon Structure


    (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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    NDUFA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATGTGTTA
    NDUFA1 Expression
    About this image


    NDUFA1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Lens
    NDUFA1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534168

    UniProtKB/Swiss-Prot: NDUA1_HUMAN, O15239
    Tissue specificity: Primarily expressed in heart and skeletal muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA1: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA1

    (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 chordates.

    Orthologs for NDUFA1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa11 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 81.43(n)1
    82.86(a)1
      X (21.61 cM)5
    544051  NM_019443.21  NP_062316.11 
     371875885 
    chicken
    (Gallus gallus)
    Aves NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 67.62(n)
    72.86(a)
      772150  XM_001234261.3  XP_001234262.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA16
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex...
    67(a)
    1 ↔ 1
    GL343950.1(88559-90307)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ndufa11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 67.14(n)
    68.57(a)
      100135137  NM_001171667.1  NP_001165138.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndufa11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 63.29(n)
    66.67(a)
      415243  NM_001167855.1  NP_001161327.1 


    ENSEMBL Gene Tree for NDUFA1 (if available)
    TreeFam Gene Tree for NDUFA1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFA1 gene
    1 SIMAP similar gene for NDUFA1 using alignment to 1 protein entry:     NDUA1_HUMAN:
    ZNF183

    Find genes that share paralogs with NDUFA1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NDUFA1
    PGOHUM00000240709


    (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 NDUFA1 (see all 148)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0350994
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0350992 G R mis40--------
    VAR_0351004
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0351002 R S mis40--------
    VAR_0361734
    A colorectal cancer sample4--see VAR_0361732 R C mis40--------
    rs1048948841,2
    Cpathogenic1118999380(+) TCCCCC/GGACTC 2 R G mis10--------
    rs1048948851,2
    Cpathogenic1119000758(+) AAAAGC/GGTTGC 2 S R mis10--------
    rs1873934101,2
    --118997240(+) GAGCCA/GGGCTC 1 -- us2k10--------
    rs37951931,2
    C--118997284(-) TGCCTC/TGGCCT 1 -- us2k12Minor allele frequency- T:0.00NA CSA 2
    rs1923205391,2
    --118997287(+) CCAAGA/GCAGGT 1 -- us2k10--------
    rs568182501,2
    C--118997379(+) AAAAAT/ATAGCC 1 -- us2k12Minor allele frequency- A:0.33NA WA 3
    rs626140521,2
    --118997452(+) GAACCC/GGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFA1 (119005450 - 119010629 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for NDUFA1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7057CNV Insertion18451855
    dgv2469e1CNV Complex17122850
    dgv2468e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): NDUFA1
    Locus Specific Mutation Databases (LSDB): NDUFA1

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300078   
    OMIM disorders: 252010  
    UniProtKB/Swiss-Prot: NDUA1_HUMAN, O15239
  • 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

  • 4 diseases for NDUFA1:    
    About MalaCards
    fanconi anemia, complementation group a    leber hereditary optic neuropathy    mitochondrial complex i deficiency    leigh disease

    4 diseases from the University of Copenhagen DISEASES database for NDUFA1:
    Leigh disease     Leber hereditary optic neuropathy     Mitochondrial myopathy     Parkinson's disease

    Find genes that share disorders with NDUFA1           About GenesLikeMe

    6 Novoseek inferred disease relationships for NDUFA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 81 1 17262856 (1)
    mitochondrial diseases 75.1 1 12557286 (1)
    mitochondrial encephalomyopathies 72.3 2 17262856 (2)
    lebers hereditary optic neuropathy 71.2 1 15293270 (1)
    optic neuropathy 66.6 1 12557286 (1)
    neurodegeneration 38.5 1 15293270 (1)

    Genetic Association Database (GAD): NDUFA1
    Human Genome Epidemiology (HuGE) Navigator: NDUFA1 (1 document)

    Export disorders for NDUFA1 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 NDUFA1 gene, integrated from 10 sources (see all 33):
    (articles sorted by number of sources associating them with NDUFA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I. (PubMed id 8938439)1, 2, 3, 9 Zhuchenko O.... Lee C.C. (Genomics 1996)
    2. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. (PubMed id 17262856)1, 2, 9 Fernandez-Moreira D.... Arenas J. (Ann. Neurol. 2007)
    3. Identification of a new member (ZNF183) of the Ring finger gene family in Xq24-25. (PubMed id 9224902)1, 2, 9 Frattini A.... Vezzoni P. (Gene 1997)
    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. 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)
    6. 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)
    7. The NDUFA1 gene product (MWFE protein) is essential for activity of complex I in mammalian mitochondria. (PubMed id 10200266)1, 7 Au H.C....Scheffler I.E. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    8. Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma. (PubMed id 15854127)1, 9 Mamelak A.J....Sauder D.N. (Exp. Dermatol. 2005)
    9. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. (PubMed id 19185523)1, 9 Potluri P....Procaccio V. (Mol. Genet. Metab. 2009)
    10. Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A. (PubMed id 23791750)1 Ravera S....Degan P. (Biochimie 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 4694 HGNC: 7683 AceView: NDUFA1 Ensembl:ENSG00000125356 euGenes: HUgn4694
    ECgene: NDUFA1 Kegg: 4694 H-InvDB: NDUFA1

    (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 NDUFA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NDUFA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NDUFA1[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 NDUFA1 gene:
    Search GeneIP for patents involving NDUFA1

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



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