MT-ND4L Gene
protein-coding GIFtS: 38
GCID: GCMTP010472
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mitochondrially encoded NADH dehydrogenase 4L(Previous name: NADH dehydrogenase 4L )
(Previous symbol: MTND4L)
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Aliases
for MT-ND4L gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrially Encoded NADH Dehydrogenase 4L1 | | NAD4L1 | | MTND4L1 2 3 | | NADH Dehydrogenase 4L1 | | ND4L1 2 3 | | NADH Dehydrogenase, Subunit 4L (Complex I)2 | | NADH Dehydrogenase Subunit 4L2 3 | | NADH4L3 | | EC 1.6.5.33 8 | | |
Export aliases for MT-ND4L gene to outside databasesPrevious GC identifer: GC00U921591 |
Summaries
for MT-ND4L gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: NU4LM_HUMAN, P03901Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)
Gene Wiki entry for MT-ND4L
|
Genomic Views
for MT-ND4L gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MT-ND4L
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-ND4L
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND4L |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP010472: view genomic region
(about GC identifiers)
Start:
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10,470 bp from pter |
End:
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10,766 bp from pter |
Size:
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297 bases |
Orientation:
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plus strand |
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Proteins
for MT-ND4L gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NU4LM_HUMAN, P03901 (See
protein sequence)Recommended Name: NADH-ubiquinone oxidoreductase chain 4L Size: 98 amino acids; 10741 Da
Subcellular location: Mitochondrion membrane; Multi-pass membrane protein (By similarity)Explore the universe of human proteins at neXtProt for MT-ND4L: NX_P03901
4/11 DME Specific Peptides for MT-ND4L (P03901) (see all 11)
MT-ND4L Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000354728 Reactome Protein details: P03901
Human Recombinant Protein Products:
Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table
MT-ND4L for ontologies About GeneDecksing
MT-ND4L Antibody Products:
Assay Products for MT-ND4L: |
Protein
Domains /
Families
for MT-ND4L gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MT-ND4L for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P03901ProtoNet protein and cluster: P03901 1 Blocks protein family: IPB003214 Mitochodrial NADH-ubiquinone oxidoreductase
UniProtKB/Swiss-Prot: NU4LM_HUMAN, P03901Similarity: Belongs to the complex I subunit 4L family |
Function
for MT-ND4L gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: NU4LM_HUMAN, P03901Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)Catalytic activity: NADH + ubiquinone = NAD(+) + ubiquinolEnzyme Number (IUBMB): EC 1.6.5.31 2
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008137 | NADH dehydrogenase (ubiquinone) activity |
NAS | 3921850 |
MT-ND4L for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for MT-ND4L:
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Pathways & Interactions
for MT-ND4L gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for MT-ND4L
4 
Reactome Pathways for MT-ND4L
3 
Kegg Pathways (Kegg details for MT-ND4L):
MT-ND4L for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ND4L
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/58 Interacting proteins for MT-ND4L (P039013 ENSP000003547284) via UniProtKB, MINT, STRING, and/or I2D (see all 58)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
NAS | 3921850 | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
MT-ND4L for ontologies About GeneDecksing
|
Drugs & Compounds
for MT-ND4L gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MT-ND4L for compounds About GeneDecksing
 Browse Tocris compounds for MT-ND4L
9 HMDB Compounds for MT-ND4L About this table
1 DrugBank Compound for MT-ND4L About this table
1 Novoseek chemical compound relationship for MT-ND4L gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nadh |
61.4 |
1 |
7628554 (1) |
Search CenterWatch for drugs/clinical trials and news about MT-ND4L / NU4LM
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Transcripts
for MT-ND4L gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000361335
GeneLoc Exon Structure
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Expression
for MT-ND4L gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MT-ND4L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MT-ND4L Protein Expression from SPIRE MOPED and PaxDB SABiosciences Custom PCR Arrays for MT-ND4L
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MT-ND4L
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-ND4L | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND4L | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND4L |
Orthologs
for MT-ND4L gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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This gene was present in the common ancestor of animals.
Orthologs for MT-ND4L gene from 5/11 species (see all 11) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
mt-Nd4l5
ND4L1 |
mitochondrially encoded NADH dehydrogenase 4L5
NADH dehydrogenase subunit 4L1 |
69.05(n)1
67.35(a)1 |
|
MT5
177201 ND4L_345386061 NP_904336.11
98775 |
chicken
(Gallus gallus) |
Aves |
NU4LM_CHICK6 |
NADH-ubiquinone oxidoreductase chain 4L |
49(a) |
1 ↔ 1 |
MT(11196-11492) |
lizard
(Anolis carolinensis) |
Reptilia |
B3GSZ8_ANOCA6 |
NADH dehydrogenase subunit 4L |
45(a) |
1 ↔ 1 |
GL343313.1(1189119-1189415) |
zebrafish
(Danio rerio) |
Actinopterygii |
mt-nd4l6 |
NADH dehydrogenase 4L, mitochondrial |
51(a) |
1 ↔ 1 |
MT(11009-11305) |
fruit fly
(Drosophila melanogaster) |
Insecta |
mt:ND4L6 |
mitochondrial NADH-ubiquinone oxidoreductase chain... |
33(a) |
1 ↔ 1 |
dmel_mitochondrion_genome(9544-9834) |
ENSEMBL Gene Tree for MT-ND4L (if available)
TreeFam Gene Tree for MT-ND4L (if available) |
Paralogs
for MT-ND4L gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MT-ND4L gene
2 SIMAP similar genes for MT-ND4L using alignment to 1 protein entry: NU4LM_HUMAN:NADH4L ND4L
MT-ND4L for paralogs About GeneDecksing
5/31 Pseudogenes.org Pseudogenes for MT-ND4L (see all 31)
PGOHUM00000238399 PGOHUM00000242817 PGOHUM00000247126 PGOHUM00000248718 PGOHUM00000248889
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Genomic Variants
for MT-ND4L gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Human Gene Mutation Database (HGMD): MT-ND4L
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for MT-ND4L gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MT-ND4L for disorders About GeneDecksing
OMIM gene information: 516004
OMIM disorders: --
UniProtKB/Swiss-Prot: NU4LM_HUMAN, P03901
Defects in MT-ND4L are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is a maternallyinherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiacconduction defects and neurological defects have also been described in some patients. LHON results from primarymitochondrial DNA mutations affecting the respiratory chain complexes
8  diseases for MT-ND4L: About MalaCardsleber hereditary optic neuropathy hypomagnesemia hypercalciuria neuropathy
parkinson's disease colorectal cancer hepatitis acne
2 diseases from the University of Copenhagen DISEASES database for MT-ND4L:Leber hereditary optic neuropathy Mitochondrial myopathy GeneTests: MT-ND4L
Leber Hereditary Optic Neuropathy
Export disorders for MT-ND4L gene to outside databases
|
Publications
for MT-ND4L gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MT-ND4L gene, integrated from 9 sources (see all 23):
(articles sorted by number of sources associating them with MT-ND4L) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase. (PubMed id 3921850)1, 2 Chomyn A.... Attardi G. (1985)
- Sequence and organization of the human mitochondrial genome. (PubMed id 7219534)1, 2 Anderson S.... Young I.G. (1981)
- Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. (PubMed id 8680405)2, 9 Brown M.D.... Wallace D.C. (1995)
- MtSNPscore: a combined evidence approach for assessin g cumulative impact of mitochondrial variations in disease. (PubMed id 19758471)1 Bhardwaj A....Tiwari S. (2009)
- Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk. (PubMed id 19050702)1 Webb E....Houlston R.S. (2008)
- A novel PCLN-1 gene mutation in familial hypomagnesemia with hypercalciuria and atypical phenotype. (PubMed id 17123117)1 Sanjad S.A....Lifton R.P. (2007)
- Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
- How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
- Single nucleotide polymorphisms over the entire mtDNA genome that increase the power of forensic testing in Caucasians. (PubMed id 14760490)2 Coble M.D.... Parsons T.J. (2004)
- Lineage-specific selection in human mtDNA: lack of polymorphisms in a segment of MTND5 gene in haplogroup J. (PubMed id 12949126)2 Moilanen J.S.... Majamaa K. (2003)
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External Searches for MT-ND4L gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
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Genome Databases showing MT-ND4L gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-ND4L gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-ND4L gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MT-ND4L | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND4L |
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About This Section
| Patent Information for MT-ND4L gene:
Search GeneIP for patents involving MT-ND4L
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MT-ND4L gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for MT-ND4L | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MT-ND4L | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MT-ND4L | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | Browse OriGene siRNAs | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MT-ND4L | | Browse OriGene Myc/DDK tagged cDNA clones in CMV expression vector | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for MT-ND4L | | OriGene Custom Protein Services for MT-ND4L | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-ND4L | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ND4L | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND4L | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-ND4L | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND4L | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND4L |
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 |  |  |  | |
| | | | Search Tocris compounds for MT-ND4L |
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 | | | MT-ND4L Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for MT-ND4L |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-ND4L |
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