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Aliases for MT-ND1 Gene

Aliases for MT-ND1 Gene

  • Mitochondrially Encoded NADH Dehydrogenase 1 2
  • NADH Dehydrogenase Subunit 1 3 4
  • EC 1.6.5.3 4 63
  • MTND1 3 4
  • ND1 3 4
  • 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 Dehydrogenase 1) is a Protein Coding gene. Diseases associated with MT-ND1 include melas, mt-nd1-related and alzheimer disease-2. Among its related pathways are Metabolism and Metabolism.

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

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

Genomic View for MT-ND1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

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:
Reactome Protein details:

Domains for MT-ND1 Gene

Gene Families for MT-ND1 Gene

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

Suggested Antigen Peptide Sequences for MT-ND1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P03886

UniProtKB/Swiss-Prot:

NU1M_HUMAN :
  • P03886
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

Gene Ontology (GO) - Molecular Function for MT-ND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
GO:0008137 NADH dehydrogenase (ubiquinone) activity --
genes like me logo Genes that share ontologies with MT-ND1: view

Phenotypes for MT-ND1 Gene

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

No data available for Animal Models , Transcription Factor Targeting 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
lysosome 2
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MT-ND1 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:0016020 membrane --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with MT-ND1: view

Pathways 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:0006120 mitochondrial electron transport, NADH to ubiquinone --
GO:0022904 respiratory electron transport chain --
GO:0044237 cellular metabolic process --
GO:0044281 small molecule metabolic process --
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with MT-ND1: view

Compounds for MT-ND1 Gene

(9) HMDB Compounds for MT-ND1 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

(8) Drugbank Compounds for MT-ND1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Desflurane
  • Desflurano [INN-Spanish]
57041-67-5 target unknown
Enflurane
  • Anesthetic 347
13838-16-9 target unknown
Halothane
  • 2-Bromo-2-Chloro-1,1,1-Trifluoroethane
151-67-7 target inhibitor
Isoflurane
26675-46-7 enzyme inhibitor
Methoxyflurane
  • Methoflurane
76-38-0 target unknown

(13) Novoseek inferred chemical compound relationships for MT-ND1 Gene

Compound -log(P) Hits PubMed IDs
nadh 81.2 29
rotenone 64.1 1
solium 44.6 1
valine 29.4 1
atp 27.8 3
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 :

miRNA Products

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MT-ND1

Flow Cytometry Products

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 (4.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for MT-ND1 Gene

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

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 35
  • 73.82 (n)
  • 78.22 (a)
ND1 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MT-ND1 36
  • 76 (a)
OneToOne
ND1 35
  • 73.16 (n)
  • 77.89 (a)
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 MT-ND1 36
  • 68 (a)
OneToOne
ND1 35
  • 69.55 (n)
  • 71.1 (a)
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 mt-nd1 36
  • 65 (a)
OneToOne
ND1 35
  • 67.88 (n)
  • 67 (a)
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

Selected 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 MAF
VAR_004747 -
VAR_004748 Leber hereditary optic neuropathy (LHON)
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 and Structural Variations from Database of Genomic Variants (DGV) for MT-ND1 Gene

Disorders for MT-ND1 Gene

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. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Note=Genetic variation in MT-ND1 might contribute ot the pathogenesis of non-insulin-dependent diabetes mellitus (NIDDM).

(1) University of Copenhagen DISEASES for MT-ND1 Gene

(8) Novoseek inferred disease relationships for MT-ND1 Gene

Disease -log(P) Hits PubMed IDs
lebers hereditary optic neuropathy 90.2 6
acidosis lactic 48.9 2
hydatid cyst 40.4 1
niddm 36.9 3
diabetes mellitus 36.1 3

Relevant External Links for MT-ND1

GeneTests
MT-ND1
GeneReviews
MT-ND1
Genetic Association Database (GAD)
MT-ND1
genes like me logo Genes that share disorders with MT-ND1: view

Publications for MT-ND1 Gene

  1. Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PMID: 15975594) Huerta C. … Alvarez V. (J. Neurol. Sci. 2005) 3 23 48
  2. Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PMID: 16060290) Guo L.J. … Tanaka M. (Mitochondrion 2005) 3 23 48
  3. [Development of a DNA chip screening mitochondrial DNA mutations in patients with diabetes mellitus]. (PMID: 17200023) Liu S.M. … Li D. (Zhonghua Yi Xue Za Zhi 2006) 3 23 48
  4. 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
  5. Mitochondrial DNA polymorphisms as risk factors for Parkinson's disease and Parkinson's disease dementia. (PMID: 15108120) Autere J. … Majamaa K. (Hum. Genet. 2004) 3 48

Products for MT-ND1 Gene

Sources for MT-ND1 Gene

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