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

    Gene ID: 4535, updated on 5-Aug-2022

    Summary

    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 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, Apr 2022]
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    Genomic context

    See MT-ND1 in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (3307..4262)
    105.20220307 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

    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

    Homology

    • Homologs of the ND1 gene: The ND1 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, A.thaliana, rice, and frog.
    • Orthologs

    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
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    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
      P03886, Q37523
      UniProtKB/TrEMBL
      U5Z754
      Related
      ENSP00000354687.2
      Conserved Domains (1) summary
      MTH00104
      Location:1318
      ND1; NADH dehydrogenase subunit 1; Provisional