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

MT-ND5 Gene

protein-coding   GIFtS: 45
GCID: GCMTP012339

Mitochondrially Encoded NADH Dehydrogenase 5

(Previous name: NADH dehydrogenase 5)
(Previous symbol: MTND5)
Alzheimer's & Parkinson's Diseases Congress
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at  

(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
Mitochondrially Encoded NADH Dehydrogenase 51     Complex I ND5 Subunit1
MTND51 2 3     NADH Dehydrogenase 51
ND52 3     NADH-Ubiquinone Oxidoreductase Chain 51
NADH Dehydrogenase Subunit 52 3     NADH Dehydrogenase, Subunit 5 (Complex I)2
EC 1.6.5.33 8     NADH53

External Ids:    HGNC: 74611   Entrez Gene: 45402   Ensembl: ENSG000001987867   OMIM: 5160055   UniProtKB: P039153   

Export aliases for MT-ND5 gene to outside databases

Previous GC identifer: GC00U921592


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

GeneCards Summary for MT-ND5 Gene: 
MT-ND5 (mitochondrially encoded NADH dehydrogenase 5) is a protein-coding gene. Diseases associated with MT-ND5 include melas, mt-nd5-related, and merrf syndrome, 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: NU5M_HUMAN, P03915
Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of
electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be
ubiquinone (By similarity)




(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
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for MT-ND5
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for MT-ND5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND5


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP012339:       (about GC identifiers)

Start:
12,337 bp from pter      End:
14,148 bp from pter
Size:
1,812 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: NU5M_HUMAN, P03915 (See protein sequence)
Recommended Name: NADH-ubiquinone oxidoreductase chain 5  
Size: 603 amino acids; 67027 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q34773 Q8WCY3

Explore the universe of human proteins at neXtProt for MT-ND5: NX_P03915

Explore proteomics data for MT-ND5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P03915

  • 4/34 DME Specific Peptides for MT-ND5 (P03915) (see all 34)
     LYNRIGD  LAFLHIC  GQPRFPT  EFSLWYM 

    MT-ND5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MT-ND5 Protein Expression

    ENSEMBL proteins: 
     ENSP00000354813  
    Reactome Protein details: P03915
    Human Recombinant Protein Products for MT-ND5: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005743mitochondrial inner membrane ----
    GO:0005747mitochondrial respiratory chain complex I ----
    GO:0016021integral to membrane ----

    MT-ND5 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

    4 InterPro protein domains:
     IPR001516 NADH_UbQ_OxRdtase_chain5/L_N
     IPR003945 NADHpl_OxRdtase_5
     IPR010934 NADH_DH_su5_C
     IPR001750 NADH_UbQ/plastoQ_OxRdtase

    Graphical View of Domain Structure for InterPro Entry P03915

    ProtoNet protein and cluster: P03915

    1 Blocks protein domain: IPB003916 NADH-ubiquinone oxidoreductase chain 5 signature

    UniProtKB/Swiss-Prot: NU5M_HUMAN, P03915
    Similarity: Belongs to the complex I subunit 5 family


    MT-ND5 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: NU5M_HUMAN, P03915
    Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
    believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of
    electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be
    ubiquinone (By similarity)
    Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)

         Enzyme Number (IUBMB): EC 1.6.5.31 2

         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 ----
         
    MT-ND5 for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MT-ND5 
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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 MT-ND5 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 disease0.61
    Electron Transport Chain0.75
    Oxidative phosphorylation0.51
    The citric acid (TCA) cycle and respiratory electron transport0.72
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for MT-ND5
        Electron Transport Chain
    Oxidative phosphorylation

    4        Reactome Pathways for MT-ND5
        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


    3         Kegg Pathways  (Kegg details for MT-ND5):
        Oxidative phosphorylation
    Metabolic pathways
    Parkinson's disease


    MT-ND5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ND5

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

    5/60 Interacting proteins for MT-ND5 (P039153 ENSP000003548134) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLULP151043, ENSP000003079004I2D: score=3 STRING: ENSP00000307900
    SP1P080473, ENSP000003293574I2D: score=1 STRING: ENSP00000329357
    PACSIN1Q9BY113I2D: score=2 
    SREBF2Q127723I2D: score=2 
    NDUFC1ENSP000003777704STRING: ENSP00000377770 STRING: ENSP00000265500
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone ----
    GO:0022904respiratory electron transport chain ----
    GO:0042773ATP synthesis coupled electron transport ----
    GO:0044237cellular metabolic process ----
    GO:0044281small molecule metabolic process ----

    MT-ND5 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

    MT-ND5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MT-ND5 (NU5M)

    4 HMDB Compounds for MT-ND5    About this table
    CompoundSynonyms CAS #PubMed Ids
    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--
    Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--

    1 DrugBank Compound for MT-ND5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17614984 17139284 17016423 9071018

    10 Novoseek inferred chemical compound relationships for MT-ND5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nadh 78 31 2176148 (1), 12116593 (1), 15291971 (1), 18587274 (1) (see all 24)
    valine 27.1 1 1732158 (1)
    phosphoenolpyruvate 26.1 2 12116593 (1), 16611603 (1)
    atp 21.5 4 15291971 (1), 19026397 (1), 12964965 (1)
    methionine 13.9 2 15278763 (1), 1732158 (1)
    oligonucleotide 13.6 1 8809113 (1)
    threonine 12.4 3 10449650 (1), 15278763 (1), 1732158 (1)
    leucine 0.217 1 10480366 (1)
    alanine 0 1 1732158 (1)
    serine 0 3 10449650 (1), 10480366 (1), 1732158 (1)

    Search CenterWatch for drugs/clinical trials and news about MT-ND5 / NU5M

    (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

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000361567(uc004cox.4)

    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    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

    MT-ND5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MT-ND5 Expression
    About this image


    See MT-ND5 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for MT-ND5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-ND5

    (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 animals.

    Orthologs for MT-ND5 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia mt-Nd55
    ND51
    mitochondrially encoded NADH dehydrogenase 55
    NADH dehydrogenase subunit 51
    66(n)1
    64.06(a)1
      MT5
    177211  ND5_345386081  NP_904338.11 
     117425 
    chicken
    (Gallus gallus)
    Aves ND51 NADH dehydrogenase subunit 5 63.69(n)
    57.41(a)
      807642  ND5_5834854  NP_006925.1 
    lizard
    (Anolis carolinensis)
    Reptilia ND56
    NADH dehydrogenase subunit 5 (mitochondrion)
    55(a)
    1 ↔ 1
    MT(11670-13475)
    zebrafish
    (Danio rerio)
    Actinopterygii ND51 NADH dehydrogenase subunit 5 60.22(n)
    55.86(a)
      140535  ND5_8395622  NP_059341.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ND51 NADH dehydrogenase subunit 5 45.55(n)
    36.12(a)
      192478  ND5_5835241  NP_008284.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ND51 NADH dehydrogenase subunit 5 43.41(n)
    34.73(a)
      2565703  ND5_5834894  NP_006964.1 


    ENSEMBL Gene Tree for MT-ND5 (if available)
    TreeFam Gene Tree for MT-ND5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MT-ND5 gene
    2 SIMAP similar genes for MT-ND5 using alignment to 1 protein entry:     NU5M_HUMAN:
    NADH5    ND5

    MT-ND5 for paralogs           About GeneDecksing


    5/56 Pseudogenes.org Pseudogenes for MT-ND5 (see all 56)
    PGOHUM00000238406 PGOHUM00000238664 PGOHUM00000238884 PGOHUM00000242594 PGOHUM00000242662


    (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

    10/26 SNPs in MT-ND5 are shown (see all 26)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr MT posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0354304
    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)4--see VAR_0354302 D N mis40--------
    VAR_0047614
    Leber hereditary optic neuropathy (LHON)4--see VAR_0047612 A T mis40--------
    VAR_0354264
    Leber hereditary optic neuropathy (LHON)4--see VAR_0354262 A V mis40--------
    VAR_0047624
    Leber hereditary optic neuropathy (LHON)4--see VAR_0047622 G E mis40--------
    VAR_0645664
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0645662 V A mis40--------
    VAR_0354244
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0354242 F L mis40--------
    VAR_0354254
    Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)4--see VAR_0354252 E G mis40--------
    VAR_0088724
    ----see VAR_0088722 D G mis40--------
    VAR_0354294
    ----see VAR_0354292 S C mis40--------
    VAR_0113574
    ----see VAR_0113572 T P mis40--------

    HapMap Linkage Disequilibrium report for MT-ND5 (12337 - 14148 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MT-ND5: --

    Human Gene Mutation Database (HGMD): MT-ND5
    SABiosciences Cancer Mutation PCR Assays
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    (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: 516005    OMIM disorders: --

    UniProtKB/Swiss-Prot: NU5M_HUMAN, P03915
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute
    or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological
    defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations
    affecting the respiratory chain complexes. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by
    the presence of focal, bilateral lesions in one or more areas of the central nervous system including the
    brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the
    central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia,
    weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 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
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)
    [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent
    cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 20/52 diseases for MT-ND5 (see all 52):    About MalaCards
    melas, mt-nd5-related    merrf syndrome    melas syndrome    leber hereditary optic neuropathy
    leigh disease    kearns-sayre syndrome    wolff-parkinson-white syndrome    mitochondrial dna-associated leigh syndrome and narp
    mitochondrial complex i deficiency    cortical blindness    mitochondrial encephalomyopathy    mitochondrial disorders
    encephalomyopathy    chikungunya    myoclonus epilepsy    optic neuritis
    myoclonus    neuritis    optic atrophy    leukodystrophy

    4 diseases from the University of Copenhagen DISEASES database for MT-ND5:
    Leber hereditary optic neuropathy     Mitochondrial myopathy     Leigh disease     Lactic acidosis

    MT-ND5 for disorders           About GeneDecksing


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

    10/14 Novoseek inferred disease relationships for MT-ND5 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 82.4 7 11938446 (1), 19349200 (1), 16816025 (1), 18332249 (1) (see all 5)
    mitochondrial diseases 79.7 2 16741938 (1), 17525683 (1)
    lebers hereditary optic neuropathy 78.2 2 8741876 (1), 18396045 (1)
    mitochondrial encephalomyopathies 74.9 2 19617458 (1), 15767514 (1)
    acidosis lactic 66.3 2 19617458 (1), 15767514 (1)
    encephalopathy 59.2 1 18396045 (1)
    merrf 56.9 1 15767514 (1)
    epilepsies myoclonic 55.9 2 15767514 (2)
    somatic mutations 45 1 16404428 (1)
    microsatellite instability 34.6 1 19269084 (1)

    GeneTests: MT-ND5
    GeneReviews: MT-ND5
    Genetic Association Database (GAD): MT-ND5

    Export disorders for MT-ND5 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 MT-ND5 gene, integrated from 9 sources (see all 145):
    (articles sorted by number of sources associating them with MT-ND5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. (PubMed id 17400793)1, 2, 4, 9 Blok M.J....Smeets H.J. (2007)
    2. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. (PubMed id 16240359)1, 2, 9 Mayorov V.... Brown M.D. (2005)
    3. Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PubMed id 15975594)1, 4, 9 Huerta C....Alvarez V. (2005)
    4. Association of MT-ND5 gene variation with mitochondrial respiratory control ratio and NADH dehydrogenase activity in Tibet chicken embryos. (PubMed id 17614984)1, 7 Bao H.G....Wu C.h. (2007)
    5. The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. (PubMed id 17106447)1, 4 Ruiter E.M....Hol F.A. (2007)
    6. [Association of mitochondrial DNA variation with type 2 diabetes mellitus] (PubMed id 16331560)1, 4 Tang D.L....Liu S.M. (2005)
    7. Genotyping Parkinson disease-associated mitochondrial polymorphisms. (PubMed id 15931342)1, 4 Jiang Y....Greenlee A.R. (2004)
    8. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. (PubMed id 14730434)1, 4 Sudo A....Goto Y. (2004)
    9. Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study. (PubMed id 14639589)1, 4 Ro L.S....Chen S.T. (2003)
    10. [Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss] (PubMed id 12772452)1, 4 Kong W....Cheng H. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 4540 HGNC: 7461 Ensembl:ENSG00000198786 euGenes: HUgn4540 ECgene: MT-ND5 Kegg: 4540
    H-InvDB: MT-ND5

    (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 MT-ND5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MT-ND5 gene:
    Search GeneIP for patents involving MT-ND5

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



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