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

NDUFA1 Gene

protein-coding   GIFtS: 64
GCID: GC0XP119005

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

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD,...)
Alzheimer's & Parkinson's Diseases Congress
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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)
About This Section

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   

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 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 mitochondrial encephalomyopathy, and encephalomyopathy, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  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
   Search SABiosciences Chromatin IP Primers for NDUFA1

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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for NDUFA1 at MOPED 

Post-translational modifications:

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

  • NDUFA1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFA1 Protein Expression
    REFSEQ proteins: NP_004532.1  
    ENSEMBL proteins: 
     ENSP00000360492  
    Reactome Protein details: O15239
    Human Recombinant Protein Products for NDUFA1: 
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    Browse Proteins at Cloud-Clone Corp. 

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


    NDUFA1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (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


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

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NDUFA1 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 disease0.61
    Respiratory electron transport0.81
    Huntington's disease0.47
    Electron Transport Chain0.75
    Alzheimer's disease0.46
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/6         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


    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): 4 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:0044237cellular metabolic process 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, Ligands according to IUPHAR, 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 (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

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

    (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,
    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, Sirion Biotech, 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 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 

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

    AA772312 AA854729 BE254861 AI056948 AW016121 AA480758 BG168006 BQ918347 
    BM854023 AI357249 AA579510 AW006760 W78821 F26068 AA111999 BQ680674 
    AI185143 F18441 F28667 F36176 AJ711564 F29786 AA977792 AV684854 

    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)      NDUFA1 embryonic expression: see
    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 
     5/9 selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
             brain/forebrain/telencephalon   
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             Thoracic Perivascular Adipose
     
     Eye (Sensory Organs)
             Retina
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   

    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:
     

     
    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)
    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
    Uncharacterized protein
    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, 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) 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

    10/148 SNPs in NDUFA1 are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA1
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA1

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

  • 14 diseases for NDUFA1:    About MalaCards
    mitochondrial encephalomyopathy    encephalomyopathy    mitochondrial complex i deficiency    leber hereditary optic neuropathy
    lactic acidosis    leukodystrophy    basal cell carcinoma    neuropathy
    huntington's disease    parkinson's disease    myopathy    liver disease
    alzheimer's disease    neuronitis

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

    NDUFA1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    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. 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. (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. (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. (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. (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. (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. (2009)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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