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    MT-ND1 mitochondrially encoded NADH dehydrogenase 1 [ Homo sapiens (human) ]

    Gene ID: 4535, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MT-ND1provided by HGNC
    Official Full Name
    mitochondrially encoded NADH dehydrogenase 1provided by HGNC
    Primary source
    HGNC:HGNC:7455
    See related
    MIM:516000; AllianceGenome:HGNC:7455
    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
    MTND1; ND1
    Summary
    Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrial membrane. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in several diseases, including MELAS syndrome; neurodegenerative disease (multiple); optic nerve disease (multiple); toxic shock syndrome; and type 2 diabetes mellitus. Biomarker of Alzheimer's disease; Parkinson's disease; and multiple sclerosis. [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See MT-ND1 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 (3307..4262)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (3307..4262)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene l-rRNA Neighboring gene tRNA-Leu Neighboring gene tRNA-Ile Neighboring gene tRNA-Gln Neighboring gene tRNA-Met

    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. Early complex I assembly defects result in rapid turnover of the ND1 subunit. Zurita Rendón O, et al. Hum Mol Genet, 2012 Sep 1. PMID 22653752, Free PMC Article
    2. Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation. Liang M, et al. Biochem Biophys Res Commun, 2009 Jun 5. PMID 19324017, Free PMC Article
    3. Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese. Zhang AM, et al. Biochem Biophys Res Commun, 2009 Aug 21. PMID 19527690
    4. Novel A14841G mutation is associated with high penetrance of LHON/C4171A family. Yang J, et al. Biochem Biophys Res Commun, 2009 Sep 4. PMID 19555656
    5. [Study on mitochondrial function of ND1 gene with 3316 G-->A mutation in human diabetes]. Deng GH, et al. Zhonghua Yi Xue Za Zhi, 2009 Nov 3. PMID 20137661

    See all (154) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation.
      Title: Dysregulation of mitochondria, apoptosis and mitophagy in Leber's hereditary optic neuropathy with MT-ND1 3635G>A mutation.
    2. A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt-ND variants.
      Title: A different pattern of clinical, muscle pathology and brain MRI findings in MELAS with mt-ND variants.
    3. De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.
      Title: De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome.
    4. Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.
      Title: Clinical and molecular features of two diabetes families carrying mitochondrial ND1 T3394C mutation.
    5. Mitochondrial ND1 T4216C and ND2 C5178A mutations are associated with maternally transmitted diabetes mellitus.
      Title: Mitochondrial ND1 T4216C and ND2 C5178A mutations are associated with maternally transmitted diabetes mellitus.
    6. 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.
    7. Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.
      Title: Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.
    8. Quantitative detection of circulating MT-ND1 as a potential biomarker for colorectal cancer.
      Title: Quantitative detection of circulating MT-ND1 as a potential biomarker for colorectal cancer.
    9. Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I.
      Title: Biochemical consequences of two clinically relevant ND-gene mutations in Escherichia coli respiratory complex I.
    10. Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1.
      Title: Clinicopathological findings of a mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes/Leigh syndrome overlap patient with a novel m.3482A>G mutation in MT-ND1.
    Submit: New GeneRIF Correction See all GeneRIFs (86)

    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

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 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 proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to hydroperoxide IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to organic cyclic compound IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in dendrite IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 1
    YP_003024026.1
    • 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
      3307..4262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. YP_003024026.1 NADH dehydrogenase subunit 1 (mitochondrion) [Homo sapiens]

      See identical proteins and their annotated locations for YP_003024026.1

      Status: PROVISIONAL

      UniProtKB/Swiss-Prot
      C0JKH6, P03886, Q37523
      UniProtKB/TrEMBL
      A0A059RPU0, A0A343LJL6, A0A411L9W7, A1E1U4, A3FP01, A4ZKS2, A4ZM51, A4ZYI1, A6ZF31, B2D481, B2XQK2, C5MM18, D8L4V9, G4W6N9, H9R3Y7, Q15IG8, Q2HKM8, Q4GCQ6, Q4GL31, Q85KW9, U5Z754
      Related
      ENSP00000354687.2
      Conserved Domains (1) summary
      MTH00104
      Location:1 → 318
      ND1; NADH dehydrogenase subunit 1; Provisional
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P03886.1 P03886

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