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

    Gene ID: 4538, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
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    Genomic context

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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

    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, A0A342Y607, A0A343UGE1, A0A411IHS6, A0A411L9P7, A0SA68, A1DUY6, A4ZLD9, B4F444, B9ECU8, C7SJJ5, D5K6X9, E9N9V8, H9EC08, H9Q5A5, K9M3N5, Q5XRD0, Q5XTH1, Q7GSH8, Q85KY1, Q8WCZ0, Q9B2Y7, U3LDR4
      Related
      ENSP00000354961.2
      Conserved Domains (1) summary
      MTH00110
      Location:1457
      ND4; NADH dehydrogenase subunit 4; Provisional