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NDUFA5 Gene

protein-coding   GIFtS: 63
GCID: GC07M123177

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD,...)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 51 2     NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5 (13kD, B13)1
NADH-Ubiquinone Oxidoreductase 13 KDa-B Subunit1 2 3     B132
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 5, 13kDa1 2     CI-13KD-B2
Complex I 13kDa Subunit B1 2     CI-13kB2
Type I Dehydrogenase1 2     NUFM2
Ubiquinone Reductase1 2     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 52
Complex I Subunit B132 3     CI-13kD-B3
UQOR132 5     Complex I-13kD-B3

External Ids:    HGNC: 76881   Entrez Gene: 46982   Ensembl: ENSG000001286097   OMIM: 6016775   UniProtKB: Q167183   

Export aliases for NDUFA5 gene to outside databases

Previous GC identifers: GC07M121658 GC07M122721 GC07M122735 GC07M122775 GC07M122964 GC07M117543


(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 NDUFA5 Gene:
This nuclear gene encodes a conserved protein that comprises the B13 subunit of complex I of the mitochondrial
respiratory chain. The encoded protein localizes to the inner mitochondrial membrane, where it is thought to aid
in the transfer of electrons from NADH to ubiquinone. Alternative splicing results in multiple transcript
variants. There are numerous pseudogenes of this gene on chromosomes 1, 3, 6, 8, 9, 11, 12, and 16. (provided by
RefSeq, Apr 2014)

GeneCards Summary for NDUFA5 Gene:
NDUFA5 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5) is a protein-coding gene. Diseases associated with NDUFA5 include leber hereditary optic neuropathy, and respiratory failure. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUA5_HUMAN, Q16718
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 NDUFA5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA5 gene promoter:
         c-Fos   C/EBPbeta   NF-1   NF-1/L   AP-1   FOXO3   FOXO3b   FOXO4   FOXO3a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA5 promoter sequence
   Search Chromatin IP Primers for NDUFA5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA5


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

Entrez Gene cytogenetic band: 7q31.33   Ensembl cytogenetic band:  7q31.32   HGNC cytogenetic band: 7q31.33

NDUFA5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA5 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M123177:  view genomic region     (about GC identifiers)

Start:
123,177,051 bp from pter      End:
123,198,309 bp from pter
Size:
21,259 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 122,569,696-122,586,588     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NDUA5_HUMAN, Q16718 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 5  
Size: 116 amino acids; 13459 Da
Subunit: Complex I is composed of 45 different subunits
Secondary accessions: B2RD98 Q6IRX7

Explore the universe of human proteins at neXtProt for NDUFA5: NX_Q16718

Explore proteomics data for NDUFA5 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NDUFA5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001269348.1  NP_001269349.1  NP_001269350.1  NP_001269351.1  NP_001278233.1  NP_004991.1  

    ENSEMBL proteins: 
     ENSP00000417142   ENSP00000347988   ENSP00000368072   ENSP00000417331   ENSP00000418633  
    Reactome Protein details: Q16718

    NDUFA5 Human Recombinant Protein Products:

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

    1 InterPro protein domain:
     IPR006806 ETC_CI_29_9

    Graphical View of Domain Structure for InterPro Entry Q16718

    ProtoNet protein and cluster: Q16718

    1 Blocks protein domain: IPB006806 ETC complex I subunit

    UniProtKB/Swiss-Prot: NDUA5_HUMAN, Q16718
    Similarity: Belongs to the complex I NDUFA5 subunit family


    NDUFA5 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: NDUA5_HUMAN, Q16718
    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 NDUFA5:
    NADH ubiquinone oxidoreductase (Q reductase),component alpha 5,hydrophobic fraction of the complex I multi-subunit
    enzyme of the oxidative phosphorylation (OXPHOS),13kDa,,homologous to bovine and rat subunit B13

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
         
    NDUFA5 for ontologies           About GeneDecksing


    Animal Models:
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    2 qRT-PCR Assays for microRNAs that regulate NDUFA5:
    hsa-miR-2052 hsa-miR-590-3p
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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
    NDUA5_HUMAN, Q16718: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    chloroplast1
    extracellular1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551

    NDUFA5 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NDUFA5 About    
    See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFA5
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for NDUFA5
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFA5) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFA5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA5: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFA5

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

    Selected Interacting proteins for NDUFA5 (Q167183 ENSP000003479884) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158343, ENSP000003116954I2D: score=4 STRING: ENSP00000311695
    MYCP011063, ENSP000003672074I2D: score=3 STRING: ENSP00000367207
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    DMWDQ090193, ENSP000002702234I2D: score=2 STRING: ENSP00000270223
    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--

    NDUFA5 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for NDUFA5 (NDUA5)

    8 HMDB Compounds for NDUFA5    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 NDUFA5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17209562 17444656

    8 Novoseek inferred chemical compound relationships for NDUFA5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ubiquinone 82.6 6 14695919 (2), 17894548 (1), 11403652 (1), 7757062 (1) (see all 5)
    rotenone 79.6 1 9831004 (1)
    nadh 72.7 3 11403652 (1), 16329995 (1), 1905649 (1)
    ferricyanide 68.6 1 1905649 (1)
    quinone 65.2 2 1497345 (2)
    semiquinone 57.2 1 7757062 (1)
    hydrogen 9.01 1 11403652 (1)
    atp 0 1 10071211 (1)



    NDUFA5 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NDUFA5 gene (6 alternative transcripts): 
    NM_001282419.2  NM_001282420.2  NM_001282421.2  NM_001282422.2  NM_001291304.1  NM_005000.4  

    Unigene Cluster for NDUFA5:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
    Hs.651219  [show with all ESTs]
    Unigene Representative Sequence: NM_005000
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000471770 ENST00000355749(uc003vks.3) ENST00000378795 ENST00000459880
    ENST00000466896 ENST00000467117 ENST00000470123 ENST00000492549 ENST00000491033
    ENST00000490618(uc003vkt.1)

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    Additional mRNA sequence: 

    AK315458.1 BC000813.1 BC020821.1 BC070236.1 BC070237.1 BT006695.1 U53468.1 U64028.1 

    Selected DOTS entries (see all 27):

    DT.452008  DT.97859663  DT.121079746  DT.91775843  DT.100823843  DT.121079760  DT.100823845  DT.121079732 
    DT.100823839  DT.121079792  DT.87015316  DT.91843498  DT.92355918  DT.100736757  DT.100823835  DT.100823840 
    DT.121079756  DT.121079765  DT.75194699  DT.95266854  DT.97765293  DT.99990054  DT.100809092  DT.100823838 

    Selected AceView cDNA sequences (see all 725):

    AL516621 BE221246 CA413246 CN480932 BQ774573 AI681957 AA436126 AI701910 
    AA263111 CA394411 AU120410 BG576304 BM667710 BU169514 AI813373 BU678463 
    CA393740 BX114894 AU102578 BQ777607 AV713284 BG623733 AA873239 AI827495 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA5 (see all 9)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d
    SP1:                    -     -     -           -     -     -                                 
    SP2:                    -                       -     -     -                                 
    SP3:                    -     -     -           -           -                                 
    SP4:                                            -     -     -                                 
    SP5:                                                                                          


    ECgene alternative splicing isoforms for NDUFA5

    (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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    NDUFA5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTTTTCGCC
    NDUFA5 Expression
    About this image


    NDUFA5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Thymus (Hematopoietic System)
             Thymus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    NDUFA5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.651219

    UniProtKB/Swiss-Prot: NDUA5_HUMAN, Q16718
    Tissue specificity: Expressed in all tissues examined with highest levels in heart, skeletal muscle and brain

        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA5: 
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for NDUFA5 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa51 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 less1, 5 83.62(n)1
    82.76(a)1
      6 (11.28 cM)5
    682021  NM_026614.21  NP_080890.11 
     245186665 
    chicken
    (Gallus gallus)
    Aves NDUFA51 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa less 73.56(n)
    71.55(a)
      417753  NM_001097637.1  NP_001091106.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA56
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex...
    74(a)
    1 ↔ 1
    5(67500118-67506771)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.154812 Transcribed sequence with moderate similarity to protein spQ16718 (H.sapiens) NUFM_HUMAN NADH-ubiquinone oxidoreductase 13 kDa-B subunit (Complex I-13Kd-B) (CI-13Kd-B) (Complex I subunit B13) less 76.47(n)    137696040 
    zebrafish
    (Danio rerio)
    Actinopterygii CK361353.12   -- 72.66(n)    CK361353.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG64631 CG6463 53.62(n)
    50.43(a)
      39214  NM_140152.2  NP_648409.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C33A12.13
    CELE_C33A12.11
    NADH-ubiquinone oxidoreductase 13 KD-B
    subunit less3
    CELE_C33A12.11
    54(a)3
    56.76(n)1
    54.05(a)1
      IV(9523720-9525297)3
    1777861  NM_069287.41  NP_501688.11 


    ENSEMBL Gene Tree for NDUFA5 (if available)
    TreeFam Gene Tree for NDUFA5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFA5 gene
    1 SIMAP similar gene for NDUFA5 using alignment to 4 protein entries:     NDUA5_HUMAN (see all proteins):
    DKFZp781K1356

    NDUFA5 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for NDUFA5 (see all 13)
    PGOHUM00000242553 PGOHUM00000242554 PGOHUM00000239954 PGOHUM00000248882 PGOHUM00000244139


    (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 NDUFA5 (see all 372)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1812592141,2
    --123180629(+) TGAAAA/GTGTTG 1 -- ds50010--------
    rs1847046731,2
    --123180709(+) CTCAAC/TGTAGT 1 -- ds50010--------
    rs1448557131,2
    C--123180766(+) TTCTAA/TCTCCC 1 -- ds50010--------
    rs1481397041,2
    --123180873(+) ATGAGA/GGGAGA 1 -- ds50010--------
    rs1440354521,2
    C--123180904(+) AAATAC/TCATTT 1 -- ds50010--------
    rs2017846211,2
    --123180938(+) CGCAT-/GCGCGTG 1 -- ds50010--------
    rs69433981,2
    A--123180943(+) GCGCGC/TGcaca 1 -- ds50010--------
    rs1425747971,2
    C--123180943(+) CGCGT-/GCGCGC
            
    GCACA
    1 -- cds10--------
    rs570374101,2
    C--123180945(+) CGTGC-/CGCGCGCA/CGCG
    CGCACA
    /GCGCGCAC
    ACACA
    1 -- ds50010--------
    rs102800401,2
    C--123180946(+) CGTGCA/GCACAC 1 -- ds5001 ese30--------

    HapMap Linkage Disequilibrium report for NDUFA5 (123177051 - 123198309 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NDUFA5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv270745CNV Insertion20981092
    nsv508479CNV Loss20534489
    nsv524192CNV Gain19592680
    nsv889125CNV Gain21882294
    nsv831116CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA5
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601677    OMIM disorders: --

    Selected diseases for NDUFA5 (see all 25):    
    About MalaCards
    leber hereditary optic neuropathy    respiratory failure    multiple system atrophy    psoriatic arthritis
    chagas disease    spondylitis    ankylosing spondylitis    fanconi's anemia
    neuropathy    huntington's disease    fatty liver disease    parkinson's disease
    psoriasis    tonsillitis    hypoxia    liver disease
    arthritis    cervicitis    alzheimer's disease    malaria

    3 diseases from the University of Copenhagen DISEASES database for NDUFA5:
    Psoriasis     Chagas disease     Psoriatic arthritis

    NDUFA5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NDUFA5
    Human Genome Epidemiology (HuGE) Navigator: NDUFA5 (5 documents)

    Export disorders for NDUFA5 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 NDUFA5 gene, integrated from 10 sources (see all 62):
    (articles sorted by number of sources associating them with NDUFA5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of the human NADH:ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15. (PubMed id 9021153)1, 2, 3 Russell M.W.... Brody L.C. (Mamm. Genome 1997)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (J. Hum. Genet. 2009)
    5. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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)
    8. 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)
    9. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    10. Genomic organization of the human complex I 13-kDa subunit gene NDUFA5. (PubMed id 10343126)1, 2 Tensing K.... Metspalu A. (Cytogenet. Cell Genet. 1999)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4698 HGNC: 7688 AceView: NDUFA5 Ensembl:ENSG00000128609 euGenes: HUgn4698
    ECgene: NDUFA5 Kegg: 4698 H-InvDB: NDUFA5

    (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 NDUFA5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFA5 gene:
    Search GeneIP for patents involving NDUFA5

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



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