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    MT-ND4 mitochondrially encoded NADH dehydrogenase 4 [ Homo sapiens (human) ]

    Gene ID: 4538, updated on 2-Nov-2024

    Summary

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    Official Symbol
    MT-ND4provided by HGNC
    Official Full Name
    mitochondrially encoded NADH dehydrogenase 4provided by HGNC
    Primary source
    HGNC:HGNC:7459
    See related
    MIM:516003; AllianceGenome:HGNC:7459
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MTND4; ND4
    Summary
    Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; Parkinson's disease; macular degeneration; and schizophrenia. Biomarker of Alzheimer's disease. [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See MT-ND4 in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (10760..12137)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (10760..12137)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene NADH dehydrogenase subunit 3 Neighboring gene tRNA-Arg Neighboring gene NADH dehydrogenase subunit 4L Neighboring gene tRNA-His Neighboring gene tRNA-Ser

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Induction of rapid and highly efficient expression of the human ND4 complex I subunit in the mouse visual system by self-complementary adeno-associated virus. Koilkonda RD, et al. Arch Ophthalmol, 2010 Jul. PMID 20625049, Free PMC Article
    2. Leber's Hereditary Optic Neuropathy-Specific Mutation m.11778G>A Exists on Diverse Mitochondrial Haplogroups in India. Khan NA, et al. Invest Ophthalmol Vis Sci, 2017 Aug 1. PMID 28768321
    3. Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome. Xu B, et al. J Hum Genet, 2017 Feb. PMID 27761019
    4. Male-specific association between MT-ND4 11719 A/G polymorphism and ulcerative colitis: a mitochondria-wide genetic association study. Dankowski T, et al. BMC Gastroenterol, 2016 Oct 3. PMID 27716073, Free PMC Article
    5. Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees. Xie S, et al. Mitochondrial DNA A DNA Mapp Seq Anal, 2017 May. PMID 27159682

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial Diabetes Is Associated with the ND4 G11696A Mutation.
      Title: Mitochondrial Diabetes Is Associated with the ND4 G11696A Mutation.
    2. A small protein coded within the mitochondrial canonical gene nd4 regulates mitochondrial bioenergetics.
      Title: A small protein coded within the mitochondrial canonical gene nd4 regulates mitochondrial bioenergetics.
    3. Variation in retinal nerve fiber layer thickness at different stages of Leber's hereditary optic neuropathy in patients with the ND4 G11778A mutation.
      Title: Variation in retinal nerve fiber layer thickness at different stages of Leber's hereditary optic neuropathy in patients with the ND4 G11778A mutation.
    4. Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India.
      Title: Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India.
    5. Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility.
      Title: Mitochondrial nicotinamide adenine dinucleotide hydride dehydrogenase (NADH) subunit 4 (MTND4) polymorphisms and their association with male infertility.
    6. Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
      Title: Optic atrophy-associated TMEM126A is an assembly factor for the ND4-module of mitochondrial complex I.
    7. Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.
      Title: Visual Outcomes in Leber Hereditary Optic Neuropathy Patients With the m.11778G>A (MTND4) Mitochondrial DNA Mutation.
    8. NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
      Title: NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia.
    9. Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.
      Title: Mitochondrial transport mediates survival of retinal ganglion cells in affected LHON patients.
    10. Diagnostic value of circulating cell-free mtDNA in patients with suspected thyroid cancer: ND4/ND1 ratio as a new potential plasma marker.
      Title: Diagnostic value of circulating cell-free mtDNA in patients with suspected thyroid cancer: ND4/ND1 ratio as a new potential plasma marker.
    Submit: New GeneRIF Correction See all GeneRIFs (50)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leber optic atrophy
    MedGen: C0917796 OMIM: 535000 GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    contributes_to NADH dehydrogenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquinone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in aerobic respiration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in cerebellum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in electron transport coupled proton transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in response to ethanol IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to nicotine IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase subunit 4
    YP_003024035.1
    • TAA stop codon is completed by the addition of 3' A residues to the mRNA

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference assembly

    Genomic

    1. NC_012920.1 Reference assembly

      Range
      10760..12137
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. YP_003024035.1 NADH dehydrogenase subunit 4 (mitochondrion) [Homo sapiens]

      See identical proteins and their annotated locations for YP_003024035.1

      Status: PROVISIONAL

      UniProtKB/Swiss-Prot
      P03905, Q6RL39, Q6RQN9, Q8HNR8
      UniProtKB/TrEMBL
      A0A097PWY9, A0A1X7RBN5, A0A343UGE1, A0A411IHS6, A0A411L9P7, A0SA68, A1DUY6, A4ZLD9, B4F444, B9ECU8, C7SJJ5, D5K6X9, E9N9V8, H9EC08, H9Q5A5, K9M3N5, Q4GR66, Q5XRD0, Q5XTH1, Q7GSH8, Q85KY1, Q8WCZ0, Q9B2Y7, U3LDR4
      Related
      ENSP00000354961.2
      Conserved Domains (1) summary
      MTH00110
      Location:1 → 457
      ND4; NADH dehydrogenase subunit 4; Provisional
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P03905.1 P03905

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