ND4L NADH dehydrogenase, subunit 4L (complex I) [Homo sapiens] - Gene

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Summary

Gene symbol: ND4L
Gene description: NADH dehydrogenase, subunit 4L (complex I)
Primary source: HGNC:7460
See related: MIM:516004
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTND4L

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Genomic context

Location :: country: United Kingdom: Great Britain, tissue type: placenta, isolation source: caucasian

Sequence :: Chromosome: MT; NC_012920.1 (10470..10766)

See ND4L in Epigenomics, MapViewer

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease.
Point mutation of PCLN-1 is associated with familial hypomagnesemia with hypercalciuria
Title: A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype.

Submit: New GeneRIF Correction

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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General gene information

Markers

PMC55343P6 (e-PCR)
- UniSTS:273329

PMC55343P7 (e-PCR)
- UniSTS:273330

PMC55343P8 (e-PCR)
- UniSTS:273331

Genotypes

Homology

Homologs of the ND4L gene: The ND4L gene is conserved in chimpanzee, , dog, cow, mouse, and rat.

Pathways from BioSystems

Electron Transport Chain, organism-specific biosystem (from WikiPathways)
Electron Transport Chain, organism-specific biosystemAn electron transport chain(ETC) couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer of H+ ions across a membrane, through a set...
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
NADH:ubiquinone oxidoreductase, mitochondria, organism-specific biosystem (from KEGG)
NADH:ubiquinone oxidoreductase, mitochondria, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
Oxidative phosphorylation, organism-specific biosystem (from WikiPathways)
Oxidative phosphorylation, organism-specific biosystem
Oxidative phosphorylation
Oxidative phosphorylation, organism-specific biosystem (from KEGG)
Oxidative phosphorylation, organism-specific biosystem
Oxidative phosphorylation
Oxidative phosphorylation, conserved biosystem (from KEGG)
Oxidative phosphorylation, conserved biosystem
Oxidative phosphorylation
Parkinson's disease, organism-specific biosystem (from KEGG)
Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL...
Respiratory electron transport, organism-specific biosystem (from REACTOME)
Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

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General protein information

Preferred Names: NADH dehydrogenase, subunit 4L (complex I)

Names: NADH dehydrogenase subunit 4L

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NCBI Reference Sequences (RefSeq)

Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

mRNA and Protein(s)

YP_003024034.1 NADH dehydrogenase subunit 4L [Homo sapiens]

UniProtKB/TrEMBL

G9LG04

UniProtKB/Swiss-Prot

P03901

UniProtKB/TrEMBL

Q7GXZ4

Conserved Domains (1) summary

cl00492
Location:1 – 98
Blast Score: 339

Oxidored_q2; NADH-ubiquinone/plastoquinone oxidoreductase chain 4L