Aliases for MT-ND4 Gene

Aliases for MT-ND4 Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4 2 5
  • NADH-Ubiquinone Oxidoreductase Chain 4 2 4
  • NADH Dehydrogenase Subunit 4 3 4
  • MTND4 3 4
  • ND4 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 4 2
  • NADH Dehydrogenase, Subunit 4 (Complex I) 3
  • Leber Optic Neuropathy 2
  • Complex I ND4 Subunit 2
  • NADH Dehydrogenase 4 2
  • EC 1.6.5.3 52
  • EC 7.1.1.2 4
  • NADH4 4

External Ids for MT-ND4 Gene

Previous HGNC Symbols for MT-ND4 Gene

  • MTND4
  • LHON

Previous GeneCards Identifiers for MT-ND4 Gene

  • GC00U921590

Summaries for MT-ND4 Gene

GeneCards Summary for MT-ND4 Gene

MT-ND4 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4) is a Protein Coding gene. Diseases associated with MT-ND4 include Leber Optic Atrophy and Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity. An important paralog of this gene is MT-ND5.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MT-ND4 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MT-ND4 Gene

Genomics for MT-ND4 Gene

Genomic Locations for MT-ND4 Gene

Genomic Locations for MT-ND4 Gene
chrMT:10,760-12,137
(GRCh38/hg38)
Size:
1,378 bases
Orientation:
Plus strand
chrMT:10,760-12,137
(GRCh37/hg19)
Size:
1,378 bases
Orientation:
Plus strand

Genomic View for MT-ND4 Gene

Genes around MT-ND4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-ND4 Gene

No data available for GeneHancer (GH) 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

    Three dimensional structures from OCA and Proteopedia for MT-ND4 Gene

neXtProt entry for MT-ND4 Gene

Selected DME Specific Peptides for MT-ND4 Gene

P03905:
  • LMIAHGL
  • QTLLPLM
  • ELIMFYI
  • ITRWGNQ
  • LANLALPP
  • KSLIAYSS
  • TALYSLYM
  • YERTHSR
  • LRQTDLK
  • AHGLTSS
  • HLWLPKAHVEAP
  • LIQTPWS
  • LIMTFTA
  • PLTWLSK
  • LLPLMAFWWL
  • NLALPPTINL
  • LLLSLNP
  • PIAGSMVLAA
  • WWLLASL
  • YFLFYTL
  • MIWINTT
  • TRENTLM
  • RKKLYLSML
  • LANSNYE
  • LLKLGGYGM
  • WLLPLTIM
  • LMWLAYTMAFM
  • LWLPKAHVEAPIAGSM
  • TTTHSLII
  • VKMPLYG
  • IPLLFFNQ

Post-translational modifications for MT-ND4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-ND4 Gene

ENSEMBL proteins:

Domains & Families for MT-ND4 Gene

Gene Families for MT-ND4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for MT-ND4 Gene

Blocks:
  • NADH-ubiquinone oxidoreductase subunit 4 signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MT-ND4 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase chain 4 (A0S2M1_HUMAN)
  • NADH-ubiquinone oxidoreductase chain 4 (A0S2T6_HUMAN)
  • NADH-ubiquinone oxidoreductase chain 4 (A0SA68_HUMAN)
  • NADH-ubiquinone oxidoreductase chain 4 (A1DTS8_HUMAN)
  • NADH-ubiquinone oxidoreductase chain 4 (A1DU19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P03905

UniProtKB/Swiss-Prot:

NU4M_HUMAN :
  • Belongs to the complex I subunit 4 family.
Family:
  • Belongs to the complex I subunit 4 family.
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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a ubiquinone + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) + NAD(+); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA-COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2;.

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:0003954 contributes_to NADH dehydrogenase activity IBA 21873635
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 3921850
GO:0048039 ubiquinone binding IBA 21873635
genes like me logo Genes that share ontologies with MT-ND4: view
genes like me logo Genes that share phenotypes with MT-ND4: view

Human Phenotype Ontology for MT-ND4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-ND4 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 0

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 3921850
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MT-ND4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MT-ND4 Gene

Pathways & Interactions 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:0001666 response to hypoxia IEA --
GO:0001701 in utero embryonic development IEA --
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0007568 aging IEA --
GO:0009060 aerobic respiration IBA 21873635
genes like me logo Genes that share ontologies with MT-ND4: view

No data available for SIGNOR curated interactions for MT-ND4 Gene

Drugs & Compounds for MT-ND4 Gene

(14) Drugs for MT-ND4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Iron Approved, Experimental Pharma 1496
Coenzyme Q10 Approved, Investigational Nutra 159
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(8) Additional Compounds for MT-ND4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
Ubiquinol 8
  • Reduced coenzyme Q8
  • Ubiquinol(8)
  • Ubiquinol-8
74075-00-6
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 to gene/alias where relevant :

CRISPR Products

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

Expression for MT-ND4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MT-ND4 Gene

mRNA expression in normal human tissues for MT-ND4 Gene

Protein differential expression in normal tissues from HIPED for MT-ND4 Gene

This gene is overexpressed in Nasal epithelium (46.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MT-ND4 Gene



Protein tissue co-expression partners for MT-ND4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MT-ND4

Evidence on tissue expression from TISSUES for MT-ND4 Gene

  • Muscle(4.2)
  • Heart(4.1)
  • Nervous system(4)
  • Kidney(3.8)
  • Liver(3.8)
  • Skin(3.8)
  • Adrenal gland(3.7)
  • Intestine(3.6)
  • Lung(3.5)
  • Pancreas(3.4)
  • Stomach(3.4)
  • Gall bladder(3.3)
  • Lymph node(3.2)
  • Spleen(3.1)
  • Thyroid gland(3.1)
  • Bone marrow(3)
  • Eye(2.9)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-ND4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • meninges
  • middle ear
  • mouth
  • neck
  • outer ear
  • pharynx
  • tongue
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
  • liver
  • pancreas
  • stomach
Pelvis:
  • pelvis
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MT-ND4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MT-ND4 Gene

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 31
  • 95 (a)
OneToOne
ND4 30
  • 90.12 (n)
dog
(Canis familiaris)
Mammalia MT-ND4 31
  • 75 (a)
OneToOne
ND4 30
  • 71.42 (n)
cow
(Bos Taurus)
Mammalia MT-ND4 31
  • 74 (a)
OneToOne
ND4 30
  • 71.71 (n)
rat
(Rattus norvegicus)
Mammalia ND4 30
  • 68.41 (n)
mouse
(Mus musculus)
Mammalia ND4 30
  • 67.76 (n)
mt-Nd4 17 31
  • 67 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH4 31
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MT-ND4 31
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ND4 30
  • 64.4 (n)
MT-ND4 31
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND4 31
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND4 30
  • 65.27 (n)
Str.6772 30
zebrafish
(Danio rerio)
Actinopterygii ND4 30
  • 61.29 (n)
mt-nd4 31
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ND4 30
  • 50.18 (n)
mt:ND4 31
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ND4 30
  • 48.6 (n)
worm
(Caenorhabditis elegans)
Secernentea ND4 30
  • 45.53 (n)
MTCE.25 31
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToOne
Species where no ortholog for MT-ND4 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MT-ND4: view image

Paralogs for MT-ND4 Gene

Paralogs for MT-ND4 Gene

(3) SIMAP similar genes for MT-ND4 Gene using alignment to 1 proteins:

  • NU4M_HUMAN
genes like me logo Genes that share paralogs with MT-ND4: view

Variants for MT-ND4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-ND4 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
430677 Pathogenic: Mitochondrial diseases 7,729(+) AAAACTAACTAATACT INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT
430686 Pathogenic: Mitochondrial diseases 12,113(+) GACATCATTACCGGGT
684482 Likely Benign: Leigh syndrome; not provided 10,887(+) A/G
693315 Likely Benign: Leigh syndrome 10,775(+) G/A MISSENSE_VARIANT
693316 Uncertain Significance: Leigh syndrome 10,776(+) T/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MT-ND4 Gene

Additional Variant Information for MT-ND4 Gene

Human Gene Mutation Database (HGMD)
MT-ND4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-ND4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-ND4 Gene

Disorders for MT-ND4 Gene

MalaCards: The human disease database

(47) MalaCards diseases for MT-ND4 Gene - From: UniProtKB/Swiss-Prot, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leber optic atrophy
  • leber optic atrophy, susceptibility to
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
  • melas
leigh syndrome
  • ls
leber optic atrophy and dystonia
  • leber hereditary optic neuropathy with dystonia; ldyt
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards

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:1959619, 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.

Additional Disease Information for MT-ND4

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

No data available for Genatlas for MT-ND4 Gene

Publications for MT-ND4 Gene

  1. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. (PMID: 18771762) Ellouze S … Corral-Debrinski M (American journal of human genetics 2008) 3 23 54
  2. 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 (Biochimica et biophysica acta 2008) 3 23 54
  3. Mutation C11994T in the mitochondrial ND4 gene is not a cause of low sperm motility in Portugal. (PMID: 17517394) Pereira L … Bandelt HJ (Fertility and sterility 2008) 3 41 54
  4. The expression of the mitochondrial gene MT-ND4 is downregulated in cystic fibrosis. (PMID: 17382898) Valdivieso AG … Santa-Coloma TA (Biochemical and biophysical research communications 2007) 3 23 54
  5. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family. (PMID: 17300996) Qu J … Guan MX (Mitochondrion 2007) 3 23 54

Products for MT-ND4 Gene

Sources for MT-ND4 Gene