InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: NDUFV1

Summary

InnateDB Gene

IDBG-60805.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

NDUFV1

Gene Name

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

Synonyms

CI-51K; CI51KD; UQOR1

Species

Homo sapiens

Ensembl Gene

ENSG00000167792

Encoded Proteins

IDBP-60807

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-379538

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-596129

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-590332

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-587932

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-583530

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-597769

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-584863

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-591540

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-600004

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-594539

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-596280

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-595036

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

IDBP-600634

NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]
The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson\'s disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:67606852-67612535

Strand

Forward strand

Band

q13.2

Transcripts

ENST00000322776	ENSP00000322450
ENST00000415352	ENSP00000395368
ENST00000532303	ENSP00000432015
ENST00000532244	ENSP00000435202
ENST00000528328	ENSP00000436906
ENST00000529927	ENSP00000436766
ENST00000524876
ENST00000524838
ENST00000532343	ENSP00000431751
ENST00000528548
ENST00000532260
ENST00000530014
ENST00000530103	ENSP00000434575
ENST00000525086
ENST00000534139
ENST00000533075	ENSP00000437267
ENST00000529867	ENSP00000434438
ENST00000526138
ENST00000530638	ENSP00000436936
ENST00000528314	ENSP00000434581
ENST00000528377
ENST00000526770
ENST00000526169
ENST00000533919	ENSP00000435199
ENST00000527355	ENSP00000432637
ENST00000527923
ENST00000531250
ENST00000534352

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 40 experimentally validated interaction(s) in this database.

Experimentally validated
Total	40 [view]
Protein-Protein	37 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008137	NADH dehydrogenase (ubiquinone) activity
GO:0010181	FMN binding
GO:0016651	oxidoreductase activity, acting on NAD(P)H
GO:0046872	metal ion binding
GO:0051287	NAD binding
GO:0051539	4 iron, 4 sulfur cluster binding

Biological Process

GO:0006120	mitochondrial electron transport, NADH to ubiquinone
GO:0022904	respiratory electron transport chain
GO:0044237	cellular metabolic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005747	mitochondrial respiratory chain complex I

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000037916

View Gene Order

ENSBTAG00000021776

Not yet available

Pathways

NETPATH

REACTOME

REACT_22393

Respiratory electron transport pathway

REACT_6305

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. pathway

REACT_111083

The citric acid (TCA) cycle and respiratory electron transport pathway

REACT_111217

Metabolism pathway

KEGG

hsa05010

Alzheimer's disease pathway

hsa00190

Oxidative phosphorylation pathway

hsa05012

Parkinson's disease pathway

hsa05016

Huntington's disease pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001166102 NM_007103

HUGO

OMIM

CCDS

CCDS53669 CCDS8173

HPRD

01191

IMGT

EMBL

GenPept

RNA Seq Atlas