U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See Variation Viewer (GRCh37.p13)

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Other Literature Sources
Chemical Information
Medical
Molecular Biology Databases
Research Materials
Tools
Miscellaneous