MT-ND5 Gene
protein-coding GIFtS: 44
GCID: GCMTP012339
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mitochondrially encoded NADH dehydrogenase 5(Previous name: NADH dehydrogenase 5 )
(Previous symbol: MTND5)
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Aliases
for MT-ND5 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 51 | | NAD51 | | MTND51 2 3 | | NADH Dehydrogenase 51 | | ND51 2 3 | | NADH Dehydrogenase, Subunit 5 (Complex I)2 | | NADH Dehydrogenase Subunit 52 3 | | NADH53 | | EC 1.6.5.33 8 | | |
Export aliases for MT-ND5 gene to outside databasesPrevious GC identifer: GC00U921592 |
Summaries
for MT-ND5 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: NU5M_HUMAN, P03915Function: 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)
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Genomic Views
for MT-ND5 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-ND5
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-ND5
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND5 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP012339: view genomic region
(about GC identifiers)
Start:
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12,337 bp from pter |
End:
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14,148 bp from pter |
Size:
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1,812 bases |
Orientation:
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plus strand |
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Proteins
for MT-ND5 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: NU5M_HUMAN, P03915 (See
protein sequence)Recommended Name: NADH-ubiquinone oxidoreductase chain 5 Size: 603 amino acids; 67027 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein (By similarity)
Secondary accessions: Q34773 Q8WCY3Explore the universe of human proteins at neXtProt for MT-ND5: NX_P03915
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P03915
4/34 DME Specific Peptides for MT-ND5 (P03915) (see all 34)
MT-ND5 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000354813 Reactome Protein details: P03915
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
MT-ND5 for ontologies About GeneDecksing
MT-ND5 Antibody Products:
Assay Products for MT-ND5: |
Protein
Domains /
Families
for MT-ND5 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MT-ND5 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P03915ProtoNet protein and cluster: P03915 1 Blocks protein family: IPB003916 NADH-ubiquinone oxidoreductase chain 5 signature
UniProtKB/Swiss-Prot: NU5M_HUMAN, P03915Similarity: Belongs to the complex I subunit 5 family |
Function
for MT-ND5 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: NU5M_HUMAN, P03915Function: 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-ND5 for ontologies About GeneDecksing
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Pathways & Interactions
for MT-ND5 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-ND5
4 
Reactome Pathways for MT-ND5
3 
Kegg Pathways (Kegg details for MT-ND5):
MT-ND5 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ND5
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/60 Interacting proteins for MT-ND5 (P039153 ENSP000003548134) via UniProtKB, MINT, STRING, and/or I2D (see all 60)About this table
Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0001666 | response to hypoxia |
-- | -- | | GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
NAS | 3921850 | | GO:0010243 | response to organic nitrogen |
-- | -- | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0042542 | response to hydrogen peroxide |
-- | -- |
MT-ND5 for ontologies About GeneDecksing
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Drugs & Compounds
for MT-ND5 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-ND5 for compounds About GeneDecksing
 Browse Tocris compounds for MT-ND5
4 HMDB Compounds for MT-ND5 About this table
1 DrugBank Compound for MT-ND5 About this table
10 Novoseek chemical compound relationships for MT-ND5 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nadh |
78 |
31 |
2176148 (1), 12116593 (1), 15291971 (1), 18587274 (1) (see all 24) |
| valine |
27.1 |
1 |
1732158 (1) |
| phosphoenolpyruvate |
26.1 |
2 |
12116593 (1), 16611603 (1) |
| atp |
21.5 |
4 |
15291971 (1), 19026397 (1), 12964965 (1) |
| methionine |
13.9 |
2 |
15278763 (1), 1732158 (1) |
| oligonucleotide |
13.6 |
1 |
8809113 (1) |
| threonine |
12.4 |
3 |
10449650 (1), 15278763 (1), 1732158 (1) |
| leucine |
0.217 |
1 |
10480366 (1) |
| alanine |
0 |
1 |
1732158 (1) |
| serine |
0 |
3 |
10449650 (1), 10480366 (1), 1732158 (1) |
Search CenterWatch for drugs/clinical trials and news about MT-ND5 / NU5M
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Transcripts
for MT-ND5 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: ENST00000361567(uc004cox.4)
GeneLoc Exon Structure
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Expression
for MT-ND5 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-ND5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MT-ND5 Protein Expression from SPIRE MOPED and PaxDB SABiosciences Custom PCR Arrays for MT-ND5
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-ND5 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND5 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND5 |
Orthologs
for MT-ND5 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
|
This gene was present in the last universal common ancestor (LUCA).
Orthologs for MT-ND5 gene from 7/19 species (see all 19) About this table
ENSEMBL Gene Tree for MT-ND5 (if available)
TreeFam Gene Tree for MT-ND5 (if available) |
Paralogs
for MT-ND5 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MT-ND5 gene
- MT-ND42 MT-ND22
2 SIMAP similar genes for MT-ND5 using alignment to 1 protein entry: NU5M_HUMAN:NADH5 ND5
MT-ND5 for paralogs About GeneDecksing
5/56 Pseudogenes.org Pseudogenes for MT-ND5 (see all 56)
PGOHUM00000238406 PGOHUM00000238664 PGOHUM00000238884 PGOHUM00000242594 PGOHUM00000242662
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Genomic Variants
for MT-ND5 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-ND5
| SABiosciences Cancer Mutation PCR Assays |
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Disorders
/ Diseases
for MT-ND5 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MT-ND5 for disorders About GeneDecksing
OMIM gene information: 516005
OMIM disorders: --
UniProtKB/Swiss-Prot: NU5M_HUMAN, P03915
Defects in MT-ND5 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 Defects in MT-ND5 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disordercharacterized by bilaterally symmetrical necrotic lesions in subcortical brain regions Defects in MT-ND5 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of themitochondrial respiratory chain that causes a wide range of clinical disorders, from lethal neonatal disease toadult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specificencephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and someforms of Parkinson disease Defects in MT-ND5 are a cause of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodessyndrome (MELAS) [MIM:540000]. MELAS is a genetically heterogenious disorder, characterized by episodic vomiting,seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or corticalblindness
20/53  diseases for MT-ND5 (see all 53): About MalaCardsmitochondrial dna-associated leigh syndrome and narp wolff-parkinson-white syndrome leber hereditary optic neuropathy kearns-sayre syndrome
mitochondrial encephalomyopathy mitochondrial complex i deficiency lactic acidosis orthostatic hypotension
sensorineural hearing loss encephalomyopathy type 2 diabetes mellitus hearing loss
optic neuritis amyotrophic lateral sclerosis cerebrovascular accident cortical blindness
myoclonus epilepsy melas syndrome merrf syndrome lateral sclerosis
4 diseases from the University of Copenhagen DISEASES database for MT-ND5:Leber hereditary optic neuropathy Mitochondrial myopathy Leigh disease Lactic acidosis 10/14 Novoseek disease relationships for MT-ND5 gene (see all 14) About this table
GeneTests: MT-ND5
Mitochondrial DNA-Associated Leigh Syndrome and NARPMELASLeber Hereditary Optic Neuropathy
Genetic Association Database (GAD): MT-ND5
Export disorders for MT-ND5 gene to outside databases
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Publications
for MT-ND5 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-ND5 gene, integrated from 9 sources (see all 143):
(articles sorted by number of sources associating them with MT-ND5) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. (PubMed id 17400793)1, 2, 9 Blok M.J....Smeets H.J. (2007)
- The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation. (PubMed id 16240359)1, 2, 9 Mayorov V.... Brown M.D. (2005)
- Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PubMed id 15975594)1, 4, 9 Huerta C....Alvarez V. (2005)
- Association of MT-ND5 gene variation with mitochondrial respiratory control ratio and NADH dehydrogenase activity in Tibet chicken embryos. (PubMed id 17614984)1, 7 Bao H.G....Wu C.h. (2007)
- [Association of mitochondrial DNA variation with type 2 diabetes mellitus] (PubMed id 16331560)1, 4 Tang D.L....Liu S.M. (2005)
- Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. (PubMed id 14730434)1, 4 Sudo A....Goto Y. (2004)
- The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (2003)
- Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital-based case-control study. (PubMed id 14639589)1, 4 Ro L.S....Chen S.T. (2003)
- [Mitochondrial DNA mutations and non-syndromic sensorineural hearing loss] (PubMed id 12772452)1, 4 Kong W....Cheng H. (2002)
- 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)
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External Searches for MT-ND5 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
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Genome Databases showing MT-ND5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-ND5 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-ND5 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-ND5 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND5 |
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About This Section
| Patent Information for MT-ND5 gene:
Search GeneIP for patents involving MT-ND5
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MT-ND5 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
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-ND5 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ND5 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND5 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-ND5 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND5 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND5 |
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 |  |  |  | |
| | | | Search Tocris compounds for MT-ND5 |
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 | | | MT-ND5 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | | Search ThermoFisher Antibodies for MT-ND5 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-ND5 |
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