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Aliases for MT-ND1 Gene

Aliases for MT-ND1 Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1 2 5
  • NADH Dehydrogenase Subunit 1 3 4
  • EC 1.6.5.3 4 63
  • MTND1 3 4
  • ND1 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 1 2
  • NADH Dehydrogenase, Subunit 1 (Complex I) 3
  • NADH-Ubiquinone Oxidoreductase Chain 1 2
  • Complex I ND1 Subunit 2
  • NADH Dehydrogenase 1 2
  • NADH1 4

External Ids for MT-ND1 Gene

Previous HGNC Symbols for MT-ND1 Gene

  • MTND1

Previous GeneCards Identifiers for MT-ND1 Gene

  • GC00U921587

Summaries for MT-ND1 Gene

GeneCards Summary for MT-ND1 Gene

MT-ND1 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1) is a Protein Coding gene. Diseases associated with MT-ND1 include melas syndrome and leber hereditary optic neuropathy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for MT-ND1 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-ND1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ND1 Gene

Genomics for MT-ND1 Gene

Genomic Location for MT-ND1 Gene

Chromosome:
MT
Start:
3,307 bp from pter
End:
4,262 bp from pter
Size:
956 bases
Orientation:
Plus strand

Genomic View for MT-ND1 Gene

Genes around MT-ND1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-ND1 Gene

No data available for Regulatory Elements for MT-ND1 Gene

Proteins for MT-ND1 Gene

  • Protein details for MT-ND1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03886-NU1M_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 1
    Protein Accession:
    P03886
    Secondary Accessions:
    • C0JKH6
    • Q37523

    Protein attributes for MT-ND1 Gene

    Size:
    318 amino acids
    Molecular mass:
    35661 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MT-ND1 Gene

Proteomics data for MT-ND1 Gene at MOPED

Post-translational modifications for MT-ND1 Gene

No Post-translational modifications

Other Protein References for MT-ND1 Gene

ENSEMBL proteins:

Domains & Families for MT-ND1 Gene

Gene Families for MT-ND1 Gene

Graphical View of Domain Structure for InterPro Entry

P03886

UniProtKB/Swiss-Prot:

NU1M_HUMAN :
  • Belongs to the complex I subunit 1 family.
Family:
  • Belongs to the complex I subunit 1 family.
genes like me logo Genes that share domains with MT-ND1: view

Function for MT-ND1 Gene

Molecular function for MT-ND1 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-ND1 Gene

Phenotypes for MT-ND1 Gene

GenomeRNAi human phenotypes for MT-ND1:
genes like me logo Genes that share phenotypes with MT-ND1: view

Human Phenotype Ontology for MT-ND1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MT-ND1

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-ND1 Gene

Localization for MT-ND1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ND1 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-ND1 Gene COMPARTMENTS Subcellular localization image for MT-ND1 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
chloroplast 2
lysosome 2
nucleus 2
vacuole 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MT-ND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with MT-ND1: view

Pathways & Interactions for MT-ND1 Gene

genes like me logo Genes that share pathways with MT-ND1: view

Gene Ontology (GO) - Biological Process for MT-ND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014070 response to organic cyclic compound IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MT-ND1: view

No data available for SIGNOR curated interactions for MT-ND1 Gene

Drugs & Compounds for MT-ND1 Gene

(21) Drugs for MT-ND1 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desflurane Approved Pharma Target, unknown 125
Isoflurane Approved Pharma Enzyme, inhibitor 87
Methoxyflurane Approved Pharma Target, unknown 4
Sevoflurane Approved Pharma Target, unknown 429
Halothane Approved Pharma Activator, Target, inhibitor 1

(10) Additional Compounds for MT-ND1 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
trifluoroacetic acid
  • Acide trifluoroacetique
  • CF3COOH
  • Kyselina trifluoroctova
  • Perfluoroacetic acid
  • Trifluoracetic acid
76-05-1
genes like me logo Genes that share compounds with MT-ND1: view

Transcripts for MT-ND1 Gene

mRNA/cDNA for MT-ND1 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ND1 Gene

No ASD Table

Relevant External Links for MT-ND1 Gene

GeneLoc Exon Structure for
MT-ND1
ECgene alternative splicing isoforms for
MT-ND1

Expression for MT-ND1 Gene

mRNA expression in normal human tissues for MT-ND1 Gene

mRNA differential expression in normal tissues according to GTEx for MT-ND1 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for MT-ND1 Gene

This gene is overexpressed in Nasal epithelium (30.5), Frontal cortex (11.3), and Heart (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MT-ND1 Gene



genes like me logo Genes that share expression patterns with MT-ND1: view

Protein tissue co-expression partners for MT-ND1 Gene

- Elite partner

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MT-ND1 Gene

Orthologs for MT-ND1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MT-ND1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MT-ND1 36
  • 95 (a)
OneToOne
ND1 35
  • 90.75 (n)
  • 94.01 (a)
cow
(Bos Taurus)
Mammalia ND1 36
  • 78 (a)
OneToOne
ND1 35
  • 73.82 (n)
  • 78.22 (a)
dog
(Canis familiaris)
Mammalia ND1 35
  • 73.16 (n)
  • 77.89 (a)
MT-ND1 36
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia mt-Nd1 16
mt-Nd1 36
  • 77 (a)
OneToOne
ND1 35
  • 71.98 (n)
  • 77.74 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 50 (a)
OneToMany
MT-ND1 36
  • 70 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MT-ND1 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ND1 35
  • 73.82 (n)
  • 77.89 (a)
chicken
(Gallus gallus)
Aves ND1 35
  • 69.55 (n)
  • 71.1 (a)
MT-ND1 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND1 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND1 35
  • 68.44 (n)
  • 65.45 (a)
Str.8394 35
zebrafish
(Danio rerio)
Actinopterygii ND1 35
  • 67.88 (n)
  • 67 (a)
mt-nd1 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ND1 35
  • 49.08 (n)
  • 50.81 (a)
fruit fly
(Drosophila melanogaster)
Insecta mt:ND1 36
  • 48 (a)
OneToOne
ND1 35
  • 49.43 (n)
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea MTCE.11 36
  • 35 (a)
OneToOne
ND1 35
  • 45.59 (n)
  • 39.08 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ndhA 35
  • 47.48 (n)
  • 41.01 (a)
rice
(Oryza sativa)
Liliopsida ndhA 35
  • 44.09 (n)
  • 36.56 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToOne
Species with no ortholog for MT-ND1:
  • 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 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MT-ND1 Gene

ENSEMBL:
Gene Tree for MT-ND1 (if available)
TreeFam:
Gene Tree for MT-ND1 (if available)

Paralogs for MT-ND1 Gene

(4) SIMAP similar genes for MT-ND1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-ND1: view

No data available for Paralogs for MT-ND1 Gene

Variants for MT-ND1 Gene

Sequence variations from dbSNP and Humsavar for MT-ND1 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type
VAR_004747 -
VAR_004748 -
VAR_004749 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS)
VAR_004750 Alzheimer disease mitochondrial (AD-MT)
VAR_004751 Leber hereditary optic neuropathy (LHON)

Relevant External Links for MT-ND1 Gene

HapMap Linkage Disequilibrium report
MT-ND1
Human Gene Mutation Database (HGMD)
MT-ND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-ND1 Gene

Disorders for MT-ND1 Gene

MalaCards: The human disease database

(37) MalaCards diseases for MT-ND1 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
melas syndrome
  • mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
leber hereditary optic neuropathy
  • leber's hereditary optic neuropathy
alzheimer disease mitochondrial
  • ad-mt
leber hereditary optic neuropathy with dystonia
  • dystonia familial, with visual failure and striatal lucencies
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU1M_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:1417830, ECO:0000269 PubMed:1674640, ECO:0000269 PubMed:1900003, ECO:0000269 PubMed:1928099, ECO:0000269 PubMed:2018041}. 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:8723687}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Alzheimer disease mitochondrial (AD-MT) [MIM:502500]: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO:0000269 PubMed:8104867}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the bodys own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:15265369, ECO:0000269 PubMed:7733935}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:24105702}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MT-ND1

Genetic Association Database (GAD)
MT-ND1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MT-ND1
genes like me logo Genes that share disorders with MT-ND1: view

No data available for Genatlas for MT-ND1 Gene

Publications for MT-ND1 Gene

  1. Relationship between mutations of mitochondrial DNA ND1 gene and type 2 diabetes. (PMID: 15265369) Yu P. … Tang X.Z. (Chin. Med. J. 2004) 3 4 48 67
  2. Association of mitochondrial allele 4216C with increased risk for sepsis-related organ dysfunction and shock after burn injury. (PMID: 19487983) Huebinger R.M. … Barber R.C. (Shock 2010) 3 23
  3. [Leber's hereditary optic neuropathy and limbs abnormity claudication may be associated with the mitochondrial ND1 T3866C mutation]. (PMID: 20176558) Liu Y. … Guan M.X. (Yi Chuan 2010) 3 23
  4. Association of mitochondrial allele 4216C with increased risk for complicated sepsis and death after traumatic injury. (PMID: 19276764) Gomez R. … Barber R.C. (J Trauma 2009) 3 23
  5. Mitochondrial DNA mutation m.3635G>A may be associated with Leber hereditary optic neuropathy in Chinese. (PMID: 19527690) Zhang A.M. … Yao Y.G. (Biochem. Biophys. Res. Commun. 2009) 3 23

Products for MT-ND1 Gene

Sources for MT-ND1 Gene

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