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

NDUFA1 Gene

protein-coding   GIFtS: 60
GCID: GC0XP119005

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD,...)
 Explore 15 diseases affiliated with
NDUFA1 via our new
 Human Malady Compendium 
Biological research products
for NDUFA1
    

(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) 1 Alpha Subcomplex, 1, 7.5kDa1 2     ZNF1832
CI-MWFE1 2 3     Complex I MWFE Subunit2
MWFE1 2 5     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 12
Complex I-MWFE2 3     NADH Oxidoreductase Subunit MWFE2
NADH-Ubiquinone Oxidoreductase MWFE Subunit2 3     NADH:Ubiquinone Oxidoreductase (Complex 1)2
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 1 (7.5kD, MWFE)1     Type I Dehydrogenase2

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

Export aliases for NDUFA1 gene to outside databases

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


(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 NDUFA1:
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)

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)


(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_000023.10  NC_018934.1  NT_011786.16  
Regulatory elements:
   SABiosciences 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
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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
Subcellular location: Mitochondrion inner membrane; Single-pass membrane protein; Matrix side

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O15239

  • NDUFA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004532.1  
    ENSEMBL proteins: 
     ENSP00000360492  
    Reactome Protein details: O15239
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    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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 to membrane IEA--
    GO:0031966mitochondrial membrane IDA17209039


    NDUFA1 for ontologies           About GeneDecksing



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

    NDUFA1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (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: 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

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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551


    NDUFA1 for ontologies           About GeneDecksing


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


    (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.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    Oxidative phosphorylation0.63
    Respiratory electron transport0.81
    Parkinson's disease0.61
    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


    1 BioSystems Pathway for NDUFA1 
        Electron Transport Chain

    4        Reactome Pathways for NDUFA1
        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 NDUFA1
        Metformin Pathway, Pharmacodynamic

    5         Kegg Pathways  (Kegg details for NDUFA1):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    NDUFA1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFA1

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

    5/60 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): 3 biological process terms (GO ID links to tree view):    About this table

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


    NDUFA1 for ontologies           About GeneDecksing



    (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 NDUFA1

    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

    Search CenterWatch for drugs/clinical trials and news about NDUFA1 / NDUA1 

    (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,
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    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 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 cDNA 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 

    24/359 AceView cDNA sequences (see all 359):

    AI362812 AI708440 AA962424 AI144535 N77925 AI093345 AI200339 AI742238 
    CR456889 BM768354 N98605 T34729 AI078074 F18936 F31063 AW026042 
    AA024922 F26652 N47307 F29890 AA813106 F27804 F24426 F31201 

    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™, 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

    NDUFA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAATGTGTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NDUFA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFA1

    SOURCE GeneReport for Unigene cluster: Hs.534168

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

        SABiosciences Expression via Pathway-Focused PCR Array including NDUFA1: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NDUFA1 gene from 4/10 species (see all 10)    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_001234261.2  XP_001234262.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA16
    --
    67(a)
    1 ↔ 1
    GL343950.1(88559-90307)
    zebrafish
    (Danio rerio)
    Actinopterygii ndufa11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 63.73(n)
    67.65(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)
    About This Section
    Paralogs for NDUFA1 gene
    1 SIMAP similar gene for NDUFA1 using alignment to 1 protein entry:     NDUA1_HUMAN:
    ZNF183

    NDUFA1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NDUFA1
    PGOHUM00000240709


    (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

    10/98 NCBI SNPs in NDUFA1 are shown (see all 98    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048948851,2
    Cpathogenic108840832(+) AAAAGC/GGTTGC 2 S R mis10--------
    rs1048948841,2
    Cpathogenic108842211(+) TCCCCC/GGACTC 2 R G mis10--------
    rs626140521,2
    --108497085(+) GAACCC/GGGGAG 1 -- us2k10--------
    rs567178221,2
    --108497092(+) GGAGGC/TGGAGG 1 -- us2k10--------
    rs560477561,2
    C,--108497147(+) GAGAGC/TGAGAC 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs340633911,2
    C,F--108498379(-) CGTTCG/CGCGAA 1 -- us2k12Minor allele frequency- C:0.00NA 4624
    rs22390061,2
    C,F,H,--108499166(+) ACCGTC/TAGCCT 1 -- int19Minor allele frequency- T:0.01NS EA NA 854
    rs1114303031,2
    --108499558(+) TGGGCT/GTGGTG 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs42682441,2
    H--108502273(+) GATTTC/TTAAGA 1 -- int14Minor allele frequency- T:0.00NS EA 392
    rs1873934101,2
    --119003756(+) GAGCCA/GGGCTC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFA1 (119005450 - 119010629 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for NDUFA1
         1 CNV: 4167
    Human Gene Mutation Database (HGMD): NDUFA1

    Locus Specific Mutation Databases (LSDB): NDUFA1

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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.)
    About This Section

    NDUFA1 for disorders           About GeneDecksing

    OMIM gene information: 300078   
    OMIM disorders: 252010  
    UniProtKB/Swiss-Prot: NDUA1_HUMAN, O15239
  • Defects in NDUFA1 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

    15 diseases for NDUFA1:    About MalaCards
    leber hereditary optic neuropathy    mitochondrial complex i deficiency    mitochondrial encephalomyopathy    encephalomyopathy
    lactic acidosis    basal cell carcinoma    leigh disease    neuropathy
    leukodystrophy    neurodegeneration    neurodegenerative disease    huntington's disease
    parkinson's disease    carcinoma    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for NDUFA1:
    Leber hereditary optic neuropathy     Mitochondrial encephalomyopathy     Leigh disease

    6 Novoseek 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)

    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)
    About This Section

    PubMed articles for NDUFA1 gene, integrated from 9 sources (see all 32):
    (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. (1996)
    2. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. (PubMed id 17262856)1, 2, 9 Fernandez-Moreira D.... Arenas J. (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. (1997)
    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. 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. (1999)
    7. 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. (2005)
    8. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. (PubMed id 19185523)1, 9 Potluri P....Procaccio V. (2009)
    9. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    10. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. (PubMed id 21596602)1 Mayr J.A....Sperl W. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4694 HGNC: 7683 AceView: NDUFA1 Ensembl:ENSG00000125356 euGenes: HUgn4694
    ECgene: NDUFA1 Kegg: 4694 H-InvDB: NDUFA1

    (According to HUGE)
    About This Section
      --

    (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 NDUFA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NDUFA1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFA1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDUFA1 gene:
    Search GeneIP for patents involving NDUFA1

    GeneCards and IP:
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