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Aliases for MT-ND5 Gene

Aliases for MT-ND5 Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5 2 5
  • NADH Dehydrogenase Subunit 5 3 4
  • EC 1.6.5.3 4 61
  • MTND5 3 4
  • ND5 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 5 2
  • NADH Dehydrogenase, Subunit 5 (Complex I) 3
  • NADH-Ubiquinone Oxidoreductase Chain 5 2
  • Complex I ND5 Subunit 2
  • NADH Dehydrogenase 5 2
  • NADH5 4

External Ids for MT-ND5 Gene

Previous HGNC Symbols for MT-ND5 Gene

  • MTND5

Previous GeneCards Identifiers for MT-ND5 Gene

  • GC00U921592

Summaries for MT-ND5 Gene

GeneCards Summary for MT-ND5 Gene

MT-ND5 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5) is a Protein Coding gene. Diseases associated with MT-ND5 include Leigh Syndrome 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. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for MT-ND5 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).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ND5 Gene

Genomics for MT-ND5 Gene

Genomic Location for MT-ND5 Gene

Chromosome:
MT
Start:
12,337 bp from pter
End:
14,148 bp from pter
Size:
1,812 bases
Orientation:
Plus strand

Genomic View for MT-ND5 Gene

Genes around MT-ND5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-ND5 Gene

No data available for Regulatory Elements for MT-ND5 Gene

Proteins for MT-ND5 Gene

  • Protein details for MT-ND5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03915-NU5M_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 5
    Protein Accession:
    P03915
    Secondary Accessions:
    • Q34773
    • Q8WCY3

    Protein attributes for MT-ND5 Gene

    Size:
    603 amino acids
    Molecular mass:
    67027 Da
    Quaternary structure:
    No Data Available

neXtProt entry for MT-ND5 Gene

Selected DME Specific Peptides for MT-ND5 Gene

P03915:
  • ANNLFQLFIGWEGVGIMSF
  • AFSTSSQLGLM
  • LYNRIGD
  • LAFLHIC
  • PFLTGFYSKD
  • SQNLPLLLLDL
  • GQPRFPT
  • EFSLWYM
  • CSGSIIH
  • ILVTANN
  • GKSAQLGLH
  • QKGMIKLY
  • SQLGLMM
  • LHSNSWDPQQM
  • KLYFLSF
  • IISNWHW
  • QAILYNR
  • LSLSFKLD
  • HSSTMVVAG
  • TWSIMEFS
  • WHWATTQT
  • LTNKLKMK
  • GDIGFIL
  • TIGINQP
  • LCLGAITTLF
  • EQDIRKM
  • GIMSFLLI
  • FLITMLILV
  • MLILVTA
  • AYSTRMI
  • CALTQNDIKKI
  • TLIATSLT
  • SYTNAWAL
  • HICTHAFFKAMLF

Post-translational modifications for MT-ND5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-ND5 Gene

ENSEMBL proteins:

Domains & Families for MT-ND5 Gene

Gene Families for MT-ND5 Gene

Graphical View of Domain Structure for InterPro Entry

P03915

UniProtKB/Swiss-Prot:

NU5M_HUMAN :
  • Belongs to the complex I subunit 5 family.
Family:
  • Belongs to the complex I subunit 5 family.
genes like me logo Genes that share domains with MT-ND5: view

Function for MT-ND5 Gene

Molecular function for MT-ND5 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-ND5 Gene

Gene Ontology (GO) - Molecular Function for MT-ND5 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-ND5: view

Human Phenotype Ontology for MT-ND5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Phenotypes , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-ND5 Gene

Localization for MT-ND5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ND5 Gene

Mitochondrion inner 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-ND5 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for MT-ND5 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-ND5: view

Pathways & Interactions for MT-ND5 Gene

genes like me logo Genes that share pathways with MT-ND5: view

Gene Ontology (GO) - Biological Process for MT-ND5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0010243 response to organonitrogen compound IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042542 response to hydrogen peroxide IEA --
GO:0042773 ATP synthesis coupled electron transport IEA --
genes like me logo Genes that share ontologies with MT-ND5: view

No data available for SIGNOR curated interactions for MT-ND5 Gene

Drugs & Compounds for MT-ND5 Gene

(14) Drugs for MT-ND5 Gene - From: DrugBank, HMDB, and Novoseek

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

(4) Additional Compounds for MT-ND5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
genes like me logo Genes that share compounds with MT-ND5: view

Transcripts for MT-ND5 Gene

mRNA/cDNA for MT-ND5 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ND5 Gene

No ASD Table

Relevant External Links for MT-ND5 Gene

GeneLoc Exon Structure for
MT-ND5
ECgene alternative splicing isoforms for
MT-ND5

Expression for MT-ND5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MT-ND5 Gene

mRNA differential expression in normal tissues according to GTEx for MT-ND5 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.1).

Protein differential expression in normal tissues from HIPED for MT-ND5 Gene

This gene is overexpressed in Nasal epithelium (35.8) and Heart (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MT-ND5 Gene



Protein tissue co-expression partners for MT-ND5 Gene

- Elite partner

Evidence on tissue expression from TISSUES for MT-ND5 Gene

  • Muscle(4.1)
  • Heart(3.9)
  • Liver(3.5)
  • Nervous system(3.5)
  • Skin(3.3)
  • Intestine(3.2)
  • Kidney(3.2)
  • Stomach(3.1)
  • Adrenal gland(3)
  • Gall bladder(3)
  • Lung(3)
  • Pancreas(2.8)
  • Spleen(2.8)
  • Bone marrow(2.7)
  • Lymph node(2.7)
  • Thyroid gland(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-ND5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • meninges
  • neck
Thorax:
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • kidney
  • liver
  • pancreas
  • stomach
General:
  • blood
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with MT-ND5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for MT-ND5 Gene

Orthologs for MT-ND5 Gene

This gene was present in the common ancestor of animals.

Orthologs for MT-ND5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MT-ND5 35
  • 93 (a)
OneToOne
ND5 34
  • 89.41 (n)
cow
(Bos Taurus)
Mammalia ND5 34 35
  • 72.2 (n)
dog
(Canis familiaris)
Mammalia ND5 34 35
  • 68.99 (n)
rat
(Rattus norvegicus)
Mammalia ND5 34
  • 67.25 (n)
mouse
(Mus musculus)
Mammalia ND5 34
  • 66.67 (n)
mt-Nd5 16 35
  • 63 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia ND5 35
  • 63 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ND5 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves ND5 34
  • 64.38 (n)
MT-ND5 35
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND5 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND5 34
  • 63.93 (n)
zebrafish
(Danio rerio)
Actinopterygii ND5 34
  • 62.73 (n)
mt-nd5 35
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ND5 34
  • 47.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta ND5 34
  • 46.76 (n)
mt:ND5 35
  • 34 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea MTCE.35 35
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToOne
Species where no ortholog for MT-ND5 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-ND5 Gene

ENSEMBL:
Gene Tree for MT-ND5 (if available)
TreeFam:
Gene Tree for MT-ND5 (if available)

Paralogs for MT-ND5 Gene

(3) SIMAP similar genes for MT-ND5 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-ND5: view

No data available for Paralogs for MT-ND5 Gene

Variants for MT-ND5 Gene

Sequence variations from dbSNP and Humsavar for MT-ND5 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type
rs267606893 Pathogenic, Leigh syndrome (LS) [MIM:256000], Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 12,706(+) CTCAT(C/T)TTCCT reference, missense
rs267606894 Pathogenic, Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] 12,770(+) CTGAG(A/G)GGGCG reference, missense
rs267606895 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 13,045(+) CAGCC(A/C)TAGAA reference, missense
rs267606896 Pathogenic, Leigh syndrome (LS) [MIM:256000] 13,084(+) ACTCA(A/T)GCACT reference, missense
rs267606897 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010], Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] 13,513(+) CCAAA(A/G)ACCAC reference, missense

Relevant External Links for MT-ND5 Gene

Human Gene Mutation Database (HGMD)
MT-ND5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-ND5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-ND5 Gene

Disorders for MT-ND5 Gene

MalaCards: The human disease database

(20) MalaCards diseases for MT-ND5 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
  • melas syndrome
leber optic atrophy
  • leber congenital amaurosis
myoclonic epilepsy associated with ragged-red fibers
  • merrf syndrome
melas, mt-nd5-related
  • melas, mtnd5-related
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU5M_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:16240359, ECO:0000269 PubMed:1732158, ECO:0000269 PubMed:1900003, ECO:0000269 PubMed:8213825}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:11938446, ECO:0000269 PubMed:12796552, ECO:0000269 PubMed:17400793}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:12509858, ECO:0000269 PubMed:15767514, ECO:0000269 PubMed:17400793, ECO:0000269 PubMed:20818383}. 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:12509858, ECO:0000269 PubMed:15767514, ECO:0000269 PubMed:17400793, ECO:0000269 PubMed:9299505}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MT-ND5

Genetic Association Database (GAD)
MT-ND5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MT-ND5
genes like me logo Genes that share disorders with MT-ND5: view

No data available for Genatlas for MT-ND5 Gene

Publications for MT-ND5 Gene

  1. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. (PMID: 17400793) Blok M.J. … Smeets H.J. (J. Med. Genet. 2007) 3 4 22 46 64
  2. Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PMID: 15975594) Huerta C. … Alvarez V. (J. Neurol. Sci. 2005) 3 22 46 64
  3. The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. (PMID: 16240359) Mayorov V. … Brown M.D. (Ann. Neurol. 2005) 3 4 22 64
  4. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. (PMID: 19617458) Lim B.C. … Moon H.K. (J. Child Neurol. 2009) 3 22 64
  5. Mitochondrial DNA haplogroups M7b1'2 and M8a affect clinical expression of leber hereditary optic neuropathy in Chinese families with the m.11778G-->a mutation. (PMID: 19026397) Ji Y. … Yao Y.G. (Am. J. Hum. Genet. 2008) 3 22 64

Products for MT-ND5 Gene

Sources for MT-ND5 Gene

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