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Aliases for MT-ND4L Gene

Aliases for MT-ND4L Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4L 2 5
  • NADH Dehydrogenase Subunit 4L 3 4
  • EC 1.6.5.3 4 61
  • MTND4L 3 4
  • ND4L 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 4L 2
  • NADH Dehydrogenase, Subunit 4L (Complex I) 3
  • NADH-Ubiquinone Oxidoreductase Chain 4L 2
  • Complex I ND4L Subunit 2
  • NADH Dehydrogenase 4L 2
  • 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 Optic Atrophy and Mitochondrial Complex I Deficiency. 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 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

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 Location for MT-ND4L Gene

Chromosome:
MT
Start:
10,470 bp from pter
End:
10,766 bp from pter
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 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

neXtProt entry for MT-ND4L Gene

Selected DME Specific Peptides for MT-ND4L Gene

P03901:
  • AFTISLLG
  • YMNIMLAF
  • MSSLLCLE
  • VFAACEAA
  • VGLALLV
  • LLCLEGM
  • ISLLGML
  • LANIVPI
  • EAAVGLAL
  • SNTYGLD
  • EGMMLSLF

Post-translational modifications for MT-ND4L Gene

No Post-translational modifications

Other Protein References for MT-ND4L Gene

ENSEMBL proteins:

Domains & Families for MT-ND4L Gene

Gene Families for MT-ND4L Gene

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 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-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 IBA --
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

Phenotypes for MT-ND4L Gene

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

Inhibitory RNA Products

Clone Products

No data available for 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

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 --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
GO:0070469 respiratory chain 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 --
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
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
Coenzyme Q10 Experimental Nutra 121
NADH Nutra Target 0

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

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-ND4L: view

Transcripts for MT-ND4L Gene

mRNA/cDNA for MT-ND4L Gene

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

Inhibitory RNA Products

Clone Products

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
Organs:
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

Primer Products

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 35
  • 92.52 (n)
cow
(Bos Taurus)
Mammalia ND4L 34 35
  • 74.83 (n)
dog
(Canis familiaris)
Mammalia MT-ND4L 35
  • 71 (a)
OneToMany
ND4L 34
  • 70.41 (n)
-- 35
  • 64 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia ND4L 34
  • 70.21 (n)
mouse
(Mus musculus)
Mammalia ND4L 34
  • 69.05 (n)
mt-Nd4l 16 35
  • 66 (a)
Gm10222 35
  • 63 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia MT-ND4L 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 59 (a)
OneToMany
-- 35
  • 59 (a)
OneToMany
MT-ND4L 35
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves MT-ND4L 35
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND4L 35
  • 46 (a)
OneToMany
-- 35
  • 45 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mt-nd4l 35
  • 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)

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 Sequence Context AA Info Type
rs193302933 Pathogenic, Leber hereditary optic neuropathy (LHON) [MIM:535000] 10,663(+) CTAGT(C/T)TTTGC reference, missense
rs267606892 Pathogenic, Colorectal cancer 10,563(+) TACTA(C/T)GCCTA reference, missense
rs199688733 -- 10,506(+) CATTT(A/G)CCATC reference, missense
rs200487531 -- 10,609(+) TCTCA(C/T)AACCC reference, missense
rs28358280 -- 10,550(+) CTCAT(A/C/G/T)TCCTC reference, synonymous-codon, missense

Relevant External Links 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

(2) MalaCards diseases for MT-ND4L Gene - From: ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leber optic atrophy
  • leber congenital amaurosis
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
- 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.

Relevant External Links for MT-ND4L

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.D. … Wallace D.C. (Hum. Mutat. 1995) 4 22 64
  2. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S. … Young I.G. (Nature 1981) 3 4 64
  3. A Novel GLP1 Receptor Interacting Protein ATP6ap2 Regulates Insulin Secretion in Pancreatic Beta Cells. (PMID: 26272612) Dai F.F. … Wheeler M.B. (J. Biol. Chem. 2015) 3 64
  4. Toward an understanding of the protein interaction network of the human liver. (PMID: 21988832) Wang J. … Yang X. (Mol. Syst. Biol. 2011) 3 64
  5. Gene expression patterns of oxidative phosphorylation complex I subunits are organized in clusters. (PMID: 20376309) Garbian Y. … Mishmar D. (PLoS ONE 2010) 22 64

Products for MT-ND4L Gene

Sources for MT-ND4L Gene

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