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Aliases for MT-ND4L Gene

Aliases for MT-ND4L Gene

  • Mitochondrially Encoded NADH Dehydrogenase 4L 2
  • NADH Dehydrogenase Subunit 4L 3 4
  • EC 1.6.5.3 4 63
  • MTND4L 3 4
  • ND4L 3 4
  • 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 Dehydrogenase 4L) is a Protein Coding gene. Diseases associated with MT-ND4L include leber hereditary optic neuropathy and cardiac conduction defect. Among its related pathways are Metabolism and Metabolism.

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 , 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

Start:
10,470 bp from pter
End:
10,766 bp from pter
Size:
297 bases
Orientation:
Plus strand

Genomic View for MT-ND4L Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

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
    Secondary Accessions:

    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

Proteomics data for MT-ND4L Gene at MOPED

Selected DME Specific Peptides for MT-ND4L Gene

Post-translational modifications for MT-ND4L Gene

No Post-translational modifications

Other Protein References for MT-ND4L Gene

ENSEMBL proteins:
Reactome Protein details:

Domains for MT-ND4L Gene

Gene Families for MT-ND4L Gene

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

Protein Domains for MT-ND4L Gene

Suggested Antigen Peptide Sequences for MT-ND4L Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P03901

UniProtKB/Swiss-Prot:

NU4LM_HUMAN :
  • P03901
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 --
GO:0016651 oxidoreductase activity, acting on NAD(P)H --
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

miRNA for MT-ND4L Gene

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for MT-ND4L Gene COMPARTMENTS Subcellular localization image for MT-ND4L gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
extracellular 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane --
GO:0005747 mitochondrial respiratory chain complex I --
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with MT-ND4L: view

Pathways for MT-ND4L Gene

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

Interacting Proteins 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 --
GO:0022904 respiratory electron transport chain --
GO:0042773 ATP synthesis coupled electron transport --
GO:0044237 cellular metabolic process --
GO:0044281 small molecule metabolic process --
genes like me logo Genes that share ontologies with MT-ND4L: view

Compounds for MT-ND4L Gene

(9) HMDB Compounds for MT-ND4L 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

(1) Drugbank Compounds for MT-ND4L Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target

(1) Novoseek inferred chemical compound relationships for MT-ND4L Gene

Compound -log(P) Hits PubMed IDs
nadh 61.4 1
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 for MT-ND4L Gene

mRNA expression in normal human tissues for MT-ND4L Gene
genes like me logo Genes that share expressions 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 expression 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 35
  • 92.52 (n)
  • 98.98 (a)
ND4L 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ND4L 35
  • 74.83 (n)
  • 73.47 (a)
ND4L 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 64 (a)
OneToMany
MT-ND4L 36
  • 71 (a)
OneToMany
ND4L 35
  • 70.41 (n)
  • 72.45 (a)
mouse
(Mus musculus)
Mammalia Gm10222 36
  • 63 (a)
OneToMany
mt-Nd4l 16
mt-Nd4l 36
  • 66 (a)
OneToMany
ND4L 35
  • 69.05 (n)
  • 67.35 (a)
oppossum
(Monodelphis domestica)
Mammalia MT-ND4L 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
MT-ND4L 36
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia ND4L 35
  • 70.21 (n)
  • 70.21 (a)
chicken
(Gallus gallus)
Aves MT-ND4L 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
OneToMany
ND4L 36
  • 46 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii mt-nd4l 36
  • 51 (a)
OneToOne
Species with no ortholog for MT-ND4L:
  • 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

Selected SIMAP similar genes for MT-ND4L Gene using alignment to 1 proteins:

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

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 MAF
VAR_008397 Leber hereditary optic neuropathy (LHON)
VAR_008496 Colorectal cancer
VAR_008605 -
VAR_008606 -
VAR_008607 -

Relevant External Links for MT-ND4L Gene

HapMap Linkage Disequilibrium report
MT-ND4L
Human Gene Mutation Database (HGMD)
MT-ND4L

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

Disorders for MT-ND4L Gene

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.

(2) University of Copenhagen DISEASES for MT-ND4L Gene

Relevant External Links for MT-ND4L

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

Publications for MT-ND4L Gene

  1. Sequence and organization of the human mitochondrial genome. (PMID: 7219534) Anderson S. … Young I.G. (Nature 1981) 3 4
  2. 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 23
  3. Altered hepatic gene expression of enzymes involved in energy metabolism in the growth-retarded fetal rat. (PMID: 8929856) Lane R.H. … Simmons R.A. (Pediatr. Res. 1996) 23
  4. The complex I from Rhodobacter capsulatus. (PMID: 9593868) Dupuis A. … Issartel J.P. (Biochim. Biophys. Acta 1998) 23
  5. Gene expression patterns of oxidative phosphorylation complex I subunits are organized in clusters. (PMID: 20376309) Garbian Y. … Mishmar D. (PLoS ONE 2010) 23

Products for MT-ND4L Gene

Sources for MT-ND4L Gene

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