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

Gene ID: 4535, updated on 13-May-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
    UniProtKB/TrEMBL
    U5Z754
    Related
    ENSP00000354687.2
    Conserved Domains (1) summary
    MTH00104
    Location:1318
    ND1; NADH dehydrogenase subunit 1; Provisional