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Aliases for MT-ND4 Gene

Aliases for MT-ND4 Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4 2 5
  • NADH Dehydrogenase Subunit 4 3 4
  • EC 1.6.5.3 4 61
  • MTND4 3 4
  • ND4 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 4 2
  • 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 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 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes and Leber Optic Atrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

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 , CIViC 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

Chromosome:
MT
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

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 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

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

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 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 NAS --
GO:0016491 oxidoreductase activity IEA --
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

No data available for 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 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 IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MT-ND4: view

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:0001701 in utero embryonic development IEA --
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0007568 aging IEA --
GO:0021549 cerebellum development IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
Coenzyme Q10 Experimental Nutra 121
NADH Nutra Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for MT-ND4 Gene



Protein tissue co-expression partners for MT-ND4 Gene

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)

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
Organs:
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

Primer Products

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 35
  • 95 (a)
OneToOne
ND4 34
  • 90.12 (n)
dog
(Canis familiaris)
Mammalia MT-ND4 35
  • 75 (a)
OneToOne
ND4 34
  • 71.42 (n)
cow
(Bos Taurus)
Mammalia MT-ND4 35
  • 74 (a)
OneToOne
ND4 34
  • 71.71 (n)
rat
(Rattus norvegicus)
Mammalia ND4 34
  • 68.41 (n)
mouse
(Mus musculus)
Mammalia ND4 34
  • 67.76 (n)
mt-Nd4 16 35
  • 67 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH4 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MT-ND4 35
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ND4 34
  • 64.4 (n)
MT-ND4 35
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND4 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND4 34
  • 65.27 (n)
Str.6772 34
zebrafish
(Danio rerio)
Actinopterygii ND4 34
  • 61.29 (n)
mt-nd4 35
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ND4 34
  • 50.18 (n)
mt:ND4 35
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ND4 34
  • 48.6 (n)
worm
(Caenorhabditis elegans)
Secernentea ND4 34
  • 45.53 (n)
MTCE.25 35
  • 30 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for MT-ND4 Gene

(3) 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
rs199476112 Pathogenic, Leber hereditary optic neuropathy (LHON) [MIM:535000] 11,778(+) CAGTC(A/G)CATCA reference, missense
rs199476113 Pathogenic, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] 11,084(+) TTATA(A/G)CATTC reference, missense
rs200873900 Pathogenic, Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] 11,696(+) GCGCA(A/G)TCATT reference, missense
rs200145866 Pathogenic 11,253(+) ACTAA(C/T)TTACA reference, missense
rs200911567 Pathogenic 11,984(+) CCCTC(C/T)ACATA reference, missense

Relevant External Links 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

(36) MalaCards diseases for MT-ND4 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
  • melas syndrome
leber optic atrophy
  • leber congenital amaurosis
leber hereditary optic neuropathy with dystonia
  • dystonia familial, with visual failure and striatal lucencies
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
- 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.

Relevant External Links for MT-ND4

Genetic Association Database (GAD)
MT-ND4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. 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 22 64
  2. Optimized allotopic expression of the human mitochondrial ND4 prevents blindness in a rat model of mitochondrial dysfunction. (PMID: 18771762) Ellouze S. … Corral-Debrinski M. (Am. J. Hum. Genet. 2008) 3 22 64
  3. 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 46 64
  4. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family. (PMID: 17300996) Qu J. … Guan M.X. (Mitochondrion 2007) 3 22 64
  5. The expression of the mitochondrial gene MT-ND4 is downregulated in cystic fibrosis. (PMID: 17382898) Valdivieso A.G. … Santa-Coloma T.A. (Biochem. Biophys. Res. Commun. 2007) 3 22 64

Products for MT-ND4 Gene

Sources for MT-ND4 Gene

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