Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MT-ND4L Gene

Aliases for MT-ND4L Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4L 2 5
  • NADH Dehydrogenase, Subunit 4L (Complex I) 3 3
  • NADH Dehydrogenase Subunit 4L 3 4
  • MTND4L 3 4
  • ND4L 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 4L 2
  • NADH-Ubiquinone Oxidoreductase Chain 4L 2
  • Complex I ND4L Subunit 2
  • NADH Dehydrogenase 4L 2
  • EC 1.6.5.3 4
  • NADH4L 4

External Ids for MT-ND4L Gene

Previous HGNC Symbols for MT-ND4L Gene

  • MTND4L

Previous GeneCards Identifiers for MT-ND4L Gene

  • GC00U921591

Summaries for MT-ND4L Gene

GeneCards Summary for MT-ND4L Gene

MT-ND4L (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4L) is a Protein Coding gene. Diseases associated with MT-ND4L include Leber Hereditary Optic Neuropathy and Familial Colorectal Cancer. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and oxidoreductase activity, acting on NAD(P)H.

UniProtKB/Swiss-Prot for MT-ND4L 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-ND4L Gene

Additional gene information for MT-ND4L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ND4L Gene

Genomics for MT-ND4L Gene

Genomic Locations for MT-ND4L Gene

Genomic Locations for MT-ND4L Gene
chrMT:10,470-10,766
(GRCh38/hg38)
Size:
297 bases
Orientation:
Plus strand
chrMT:10,470-10,766
(GRCh37/hg19)
Size:
297 bases
Orientation:
Plus strand

Genomic View for MT-ND4L Gene

Genes around MT-ND4L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-ND4L Gene

No data available for GeneHancer (GH) Regulatory Elements for MT-ND4L Gene

Proteins for MT-ND4L Gene

  • Protein details for MT-ND4L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03901-NU4LM_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 4L
    Protein Accession:
    P03901

    Protein attributes for MT-ND4L Gene

    Size:
    98 amino acids
    Molecular mass:
    10741 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MT-ND4L Gene

neXtProt entry for MT-ND4L Gene

Post-translational modifications for MT-ND4L Gene

No Post-translational modifications

Other Protein References for MT-ND4L Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for MT-ND4L Gene

Domains & Families for MT-ND4L Gene

Gene Families for MT-ND4L Gene

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

Protein Domains for MT-ND4L Gene

Graphical View of Domain Structure for InterPro Entry

P03901

UniProtKB/Swiss-Prot:

NU4LM_HUMAN :
  • Belongs to the complex I subunit 4L family.
Family:
  • Belongs to the complex I subunit 4L family.
genes like me logo Genes that share domains with MT-ND4L: view

Function for MT-ND4L Gene

Molecular function for MT-ND4L 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:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).

Enzyme Numbers (IUBMB) for MT-ND4L Gene

Gene Ontology (GO) - Molecular Function for MT-ND4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS,IBA 3921850
GO:0016491 oxidoreductase activity IEA --
GO:0016651 oxidoreductase activity, acting on NAD(P)H IEA --
genes like me logo Genes that share ontologies with MT-ND4L: view
genes like me logo Genes that share phenotypes with MT-ND4L: view

Human Phenotype Ontology for MT-ND4L Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for MT-ND4L Gene

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for MT-ND4L Gene

Localization for MT-ND4L Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ND4L 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-ND4L gene
Compartment Confidence
mitochondrion 4
plasma membrane 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MT-ND4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005747 mitochondrial respiratory chain complex I NAS 3921850
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0030964 NADH dehydrogenase complex IBA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with MT-ND4L: view

Pathways & Interactions for MT-ND4L Gene

genes like me logo Genes that share pathways with MT-ND4L: view

Pathways by source for MT-ND4L Gene

Gene Ontology (GO) - Biological Process for MT-ND4L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 3921850
GO:0042773 ATP synthesis coupled electron transport IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MT-ND4L: view

No data available for SIGNOR curated interactions for MT-ND4L Gene

Drugs & Compounds for MT-ND4L Gene

(6) Drugs for MT-ND4L 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
Coenzyme Q10 Approved, Investigational Nutra 129
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0

(5) Additional Compounds for MT-ND4L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
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-ND4L: view

Transcripts for MT-ND4L Gene

mRNA/cDNA for MT-ND4L Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ND4L Gene

No ASD Table

Relevant External Links for MT-ND4L Gene

GeneLoc Exon Structure for
MT-ND4L
ECgene alternative splicing isoforms for
MT-ND4L

Expression for MT-ND4L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MT-ND4L Gene

mRNA expression in normal human tissues for MT-ND4L Gene

Evidence on tissue expression from TISSUES for MT-ND4L Gene

  • Muscle(3.9)
  • Heart(3.7)
  • Adrenal gland(3.5)
  • Kidney(3.4)
  • Liver(3.4)
  • Skin(3.3)
  • Stomach(3.3)
  • Gall bladder(3.2)
  • Pancreas(3.2)
  • Nervous system(3.2)
  • Intestine(3.1)
  • Lung(3.1)
  • Lymph node(3)
  • Spleen(3)
  • Thyroid gland(3)
  • Bone marrow(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-ND4L Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • head
Thorax:
  • heart
  • heart valve
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with MT-ND4L: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for MT-ND4L Gene

Orthologs for MT-ND4L Gene

This gene was present in the common ancestor of chordates.

Orthologs for MT-ND4L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ND4L 34 33
  • 92.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ND4L 34 33
  • 74.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MT-ND4L 34
  • 71 (a)
OneToMany
ND4L 33
  • 70.41 (n)
-- 34
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia ND4L 33
  • 70.21 (n)
mouse
(Mus musculus)
Mammalia ND4L 33
  • 69.05 (n)
mt-Nd4l 16 34
  • 66 (a)
Gm10222 34
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MT-ND4L 34
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
OneToMany
-- 34
  • 59 (a)
OneToMany
MT-ND4L 34
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves MT-ND4L 34
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND4L 34
  • 46 (a)
OneToMany
-- 34
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mt-nd4l 34
  • 51 (a)
OneToOne
Species where no ortholog for MT-ND4L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MT-ND4L Gene

ENSEMBL:
Gene Tree for MT-ND4L (if available)
TreeFam:
Gene Tree for MT-ND4L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MT-ND4L: view image

Paralogs for MT-ND4L Gene

No data available for Paralogs for MT-ND4L Gene

Variants for MT-ND4L Gene

Sequence variations from dbSNP and Humsavar for MT-ND4L Gene

SNP ID Clin Chr MT pos Variation AA Info Type
rs1057516063 likely-pathogenic, Optic neuropathy 9,166(+) T/C
rs1057516064 likely-pathogenic, Developmental delay, Mitochondrial encephalopathy, Seizure Disorders 9,237(+) G/A
rs121434456 pathogenic, Mitochondrial encephalomyopathy 10,438(+) A/G
rs121434475 pathogenic, Primary familial hypertrophic cardiomyopathy 9,997(+) T/C
rs121434476 pathogenic, Exercise intolerance 10,010(+) T/C

Additional Variant Information for MT-ND4L Gene

Human Gene Mutation Database (HGMD)
MT-ND4L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-ND4L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-ND4L Gene

Disorders for MT-ND4L Gene

MalaCards: The human disease database

(15) MalaCards diseases for MT-ND4L Gene - From: HGMD, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leber hereditary optic neuropathy
  • leber optic atrophy
familial colorectal cancer
  • colorectal cancer, familial
striatonigral degeneration, infantile
  • sndi
striatonigral degeneration, infantile, mitochondrial
  • bilateral striatal necrosis, infantile, mitochondrial
myopathy, lactic acidosis, and sideroblastic anemia 3
  • mlasa3
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU4LM_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:8680405}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MT-ND4L

genes like me logo Genes that share disorders with MT-ND4L: view

No data available for Genatlas for MT-ND4L Gene

Publications for MT-ND4L Gene

  1. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. (PMID: 8680405) Brown MD … Wallace DC (Human mutation 1995) 4 22 58
  2. Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. (PMID: 3921850) Chomyn A … Attardi G (Nature 1985) 3 4 58
  3. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S … Young IG (Nature 1981) 3 4 58
  4. RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination. (PMID: 29117863) Choudhury NR … Michlewski G (BMC biology 2017) 3 58
  5. A Novel GLP1 Receptor Interacting Protein ATP6ap2 Regulates Insulin Secretion in Pancreatic Beta Cells. (PMID: 26272612) Dai FF … Wheeler MB (The Journal of biological chemistry 2015) 3 58

Products for MT-ND4L Gene

Sources for MT-ND4L Gene

Content
Loading form....