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Aliases for MT-ND4 Gene

Aliases for MT-ND4 Gene

  • Mitochondrially Encoded NADH Dehydrogenase 4 2
  • NADH Dehydrogenase Subunit 4 3 4
  • EC 1.6.5.3 4 64
  • MTND4 3 4
  • ND4 3 4
  • NADH Dehydrogenase, Subunit 4 (Complex I) 3
  • NADH-Ubiquinone Oxidoreductase Chain 4 2
  • Leber Optic Neuropathy 2
  • Complex I ND4 Subunit 2
  • NADH Dehydrogenase 4 2
  • NADH4 4

External Ids for MT-ND4 Gene

Previous Symbols for MT-ND4 Gene

  • MTND4
  • LHON

Summaries for MT-ND4 Gene

GeneCards Summary for MT-ND4 Gene

MT-ND4 (Mitochondrially Encoded NADH Dehydrogenase 4) is a Protein Coding gene. Diseases associated with MT-ND4 include leber hereditary optic neuropathy and hereditary neuropathies. Among its related pathways are Metabolism and Metabolism.

UniProtKB/Swiss-Prot for MT-ND4 Gene

  • Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Gene Wiki entry for MT-ND4 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ND4 Gene

Genomics for MT-ND4 Gene

Genomic Location for MT-ND4 Gene

Start:
10,760 bp from pter
End:
12,137 bp from pter
Size:
1,378 bases
Orientation:
Plus strand

Genomic View for MT-ND4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

RefSeq DNA sequence for MT-ND4 Gene

No data available for Regulatory Elements for MT-ND4 Gene

Proteins for MT-ND4 Gene

  • Protein details for MT-ND4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03905-NU4M_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 4
    Protein Accession:
    P03905
    Secondary Accessions:
    • Q6RL39
    • Q6RQN9
    • Q8HNR8

    Protein attributes for MT-ND4 Gene

    Size:
    459 amino acids
    Molecular mass:
    51581 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MT-ND4 Gene

Proteomics data for MT-ND4 Gene at MOPED

Post-translational modifications for MT-ND4 Gene

No Post-translational modifications

Other Protein References for MT-ND4 Gene

ENSEMBL proteins:
Reactome Protein details:

Domains for MT-ND4 Gene

Gene Families for MT-ND4 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

UniProtKB/Swiss-Prot:

NU4M_HUMAN
Family:
  • Belongs to the complex I subunit 4 family.:
    • P03905
genes like me logo Genes that share domains with MT-ND4: view

Function for MT-ND4 Gene

Molecular function for MT-ND4 Gene

UniProtKB/Swiss-Prot CatalyticActivity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
UniProtKB/Swiss-Prot Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Enzyme Numbers (IUBMB) for MT-ND4 Gene

Gene Ontology (GO) - Molecular Function for MT-ND4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity --
genes like me logo Genes that share ontologies with MT-ND4: view

Phenotypes for MT-ND4 Gene

GenomeRNAi human phenotypes for MT-ND4:
genes like me logo Genes that share phenotypes with MT-ND4: view

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MT-ND4 Gene

Localization for MT-ND4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ND4 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-ND4 Gene COMPARTMENTS Subcellular localization image for MT-ND4 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MT-ND4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion --
GO:0005743 mitochondrial inner membrane --
GO:0005747 mitochondrial respiratory chain complex I --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with MT-ND4: view

Pathways for MT-ND4 Gene

genes like me logo Genes that share pathways with MT-ND4: view

Gene Ontology (GO) - Biological Process for MT-ND4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone --
GO:0022904 respiratory electron transport chain --
GO:0042773 ATP synthesis coupled electron transport --
GO:0044237 cellular metabolic process --
GO:0044281 small molecule metabolic process --
genes like me logo Genes that share ontologies with MT-ND4: view

Compounds for MT-ND4 Gene

(9) HMDB Compounds for MT-ND4 Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(1) Drugbank Compounds for MT-ND4 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(12) Novoseek inferred chemical compound relationships for MT-ND4 Gene

Compound -log(P) Hits PubMed IDs
nadh 77.9 18
ubiquinone 57.3 1
isoleucine 48.7 4
galactose 36.8 1
nad+ 35.3 3
genes like me logo Genes that share compounds with MT-ND4: view

Transcripts for MT-ND4 Gene

mRNA/cDNA for MT-ND4 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ND4 Gene

No ASD Table

Relevant External Links for MT-ND4 Gene

GeneLoc Exon Structure for
MT-ND4
ECgene alternative splicing isoforms for
MT-ND4

Expression for MT-ND4 Gene

mRNA expression in normal human tissues for MT-ND4 Gene

mRNA expression in normal human tissues for MT-ND4 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MT-ND4 Gene

genes like me logo Genes that share expressions with MT-ND4: view

Orthologs for MT-ND4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MT-ND4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MT-ND4 37
  • 95 (a)
OneToOne
ND4 36
  • 90.12 (n)
  • 93.03 (a)
cow
(Bos Taurus)
Mammalia MT-ND4 37
  • 74 (a)
OneToOne
ND4 36
  • 71.71 (n)
  • 73.03 (a)
dog
(Canis familiaris)
Mammalia MT-ND4 37
  • 75 (a)
OneToOne
ND4 36
  • 71.42 (n)
  • 74.78 (a)
mouse
(Mus musculus)
Mammalia mt-Nd4 16
mt-Nd4 37
  • 67 (a)
OneToOne
ND4 36
  • 67.76 (n)
  • 67.25 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH4 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MT-ND4 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ND4 36
  • 68.41 (n)
  • 68.56 (a)
chicken
(Gallus gallus)
Aves MT-ND4 37
  • 59 (a)
OneToOne
ND4 36
  • 64.4 (n)
  • 59.87 (a)
lizard
(Anolis carolinensis)
Reptilia ND4 37
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND4 36
  • 65.27 (n)
  • 63.96 (a)
Str.6772 36
zebrafish
(Danio rerio)
Actinopterygii mt-nd4 37
  • 60 (a)
OneToOne
ND4 36
  • 61.29 (n)
  • 59.91 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta ND4 36
  • 48.6 (n)
  • 44.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta mt:ND4 37
  • 43 (a)
OneToOne
ND4 36
  • 50.18 (n)
  • 46.69 (a)
worm
(Caenorhabditis elegans)
Secernentea MTCE.25 37
  • 30 (a)
OneToOne
ND4 36
  • 45.53 (n)
  • 34.38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 27 (a)
OneToOne
Species with no ortholog for MT-ND4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MT-ND4 Gene

ENSEMBL:
Gene Tree for MT-ND4 (if available)
TreeFam:
Gene Tree for MT-ND4 (if available)

Paralogs for MT-ND4 Gene

Selected SIMAP similar genes for MT-ND4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-ND4: view

No data available for Paralogs for MT-ND4 Gene

Variants for MT-ND4 Gene

Sequence variations from dbSNP and Humsavar for MT-ND4 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type MAF
VAR_004759 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)
VAR_004760 Leber hereditary optic neuropathy (LHON)
VAR_008393 Leber hereditary optic neuropathy with dystonia (LDYT)
VAR_008599 -
VAR_008600 -

Relevant External Links for MT-ND4 Gene

HapMap Linkage Disequilibrium report
MT-ND4
Human Gene Mutation Database (HGMD)
MT-ND4

No data available for Structural Variations from Database of Genomic Variants (DGV) for MT-ND4 Gene

Disorders for MT-ND4 Gene

UniProtKB/Swiss-Prot

NU4M_HUMAN
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269 PubMed:1959931, ECO:0000269 PubMed:3201231, ECO:0000269 PubMed:9452107}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001]: Part of a spectrum of Leber hereditary optic neuropathy. It is characterized by the association of optic atrophy and central vision loss with dystonia. {ECO:0000269 PubMed:8644732}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000]: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. {ECO:0000269 PubMed:1323207}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(7) Novoseek inferred disease relationships for MT-ND4 Gene

Disease -log(P) Hits PubMed IDs
lebers hereditary optic neuropathy 95.3 10
leigh syndrome 77.8 1
optic neuropathy 52.4 1
blindness 46.2 1
visual loss 38.1 1

Relevant External Links for MT-ND4

GeneTests
MT-ND4
GeneReviews
MT-ND4
Genetic Association Database (GAD)
MT-ND4
genes like me logo Genes that share disorders with MT-ND4: view

Publications for MT-ND4 Gene

  1. Differentiation of HT-29 human colonic adenocarcinoma cells correlates with increased expression of mitochondrial RNA: effects of trehalose on cell growth and maturation. (PMID: 1377597) Lu X. … Seligy V.L. (Cancer Res. 1992) 4 23
  2. High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy. (PMID: 8103501) Mashima Y. … Shimizu N. (Hum. Genet. 1993) 2 23
  3. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia. (PMID: 8644732) de Vries D.D. … van Oost B.A. (Am. J. Hum. Genet. 1996) 4 23
  4. Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal. (PMID: 17517394) Pereira L. … Bandelt H.J. (Fertil. Steril. 2008) 3 49
  5. The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes. (PMID: 18513491) Bonnet C. … Corral-Debrinski M. (Biochim. Biophys. Acta 2008) 3 23

Products for MT-ND4 Gene

Sources for MT-ND4 Gene

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