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P49821 (NDUV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 151. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

EC=1.6.5.3
EC=1.6.99.3
Alternative name(s):
Complex I-51kD
Short name=CI-51kD
NADH dehydrogenase flavoprotein 1
NADH-ubiquinone oxidoreductase 51 kDa subunit
Gene names
Name:NDUFV1
Synonyms:UQOR1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length464 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Catalytic activity

NADH + ubiquinone + 5 H+(In) = NAD+ + ubiquinol + 4 H+(Out).

NADH + acceptor = NAD+ + reduced acceptor.

Cofactor

Binds 1 FMN Potential.

Binds 1 4Fe-4S cluster Potential.

Subunit structure

Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme. Ref.9

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Involvement in disease

Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.12

Sequence similarities

Belongs to the complex I 51 kDa subunit family.

Ontologies

Keywords
   Biological processElectron transport
Respiratory chain
Transport
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Leigh syndrome
   DomainTransit peptide
   Ligand4Fe-4S
Flavoprotein
FMN
Iron
Iron-sulfur
Metal-binding
NAD
Ubiquinone
   Molecular functionOxidoreductase
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcellular metabolic process

Traceable author statement. Source: Reactome

mitochondrial electron transport, NADH to ubiquinone

Non-traceable author statement PubMed 9878551. Source: UniProtKB

respiratory electron transport chain

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentmitochondrial inner membrane

Non-traceable author statement Ref.8. Source: UniProtKB

mitochondrial respiratory chain complex I

Inferred from direct assay Ref.9. Source: UniProtKB

   Molecular_function4 iron, 4 sulfur cluster binding

Inferred from electronic annotation. Source: UniProtKB-KW

FMN binding

Inferred from electronic annotation. Source: InterPro

NAD binding

Inferred from electronic annotation. Source: InterPro

NADH dehydrogenase (ubiquinone) activity

Non-traceable author statement Ref.8PubMed 9878551. Source: UniProtKB

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P49821-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P49821-2)

The sequence of this isoform differs from the canonical sequence as follows:
     16-24: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 2020Mitochondrion By similarity
Chain21 – 464444NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial
PRO_0000019976

Regions

Nucleotide binding87 – 9610NAD(H) By similarity
Nucleotide binding199 – 24749FMN By similarity

Sites

Metal binding3791Iron-sulfur (4Fe-4S) Potential
Metal binding3821Iron-sulfur (4Fe-4S) Potential
Metal binding3851Iron-sulfur (4Fe-4S) Potential
Metal binding4251Iron-sulfur (4Fe-4S) Potential

Amino acid modifications

Modified residue811N6-acetyllysine; alternate By similarity
Modified residue811N6-succinyllysine; alternate By similarity
Modified residue1041N6-acetyllysine By similarity
Modified residue3751N6-acetyllysine By similarity

Natural variations

Alternative sequence16 – 249Missing in isoform 2.
VSP_003730
Natural variant761I → V.
Corresponds to variant rs1800670 [ dbSNP | Ensembl ].
VAR_014480
Natural variant2141E → K in MT-C1D. Ref.12
VAR_019534
Natural variant2771N → Y.
Corresponds to variant rs1043770 [ dbSNP | Ensembl ].
VAR_014481
Natural variant3411A → V in MT-C1D. Ref.11
VAR_008846
Natural variant4231T → M in LS. Ref.11
VAR_008847

Experimental info

Sequence conflict801I → V in AAB24883. Ref.7
Sequence conflict1501G → A in AAB29698. Ref.8
Sequence conflict3061G → F in CAA76757. Ref.1
Sequence conflict3131N → Y in CAA76757. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 2, 2002. Version 4.
Checksum: 8C261EA3B0267256

FASTA46450,817
        10         20         30         40         50         60 
MLATRRLLGW SLPARVSVRF SGDTTAPKKT SFGSLKDEDR IFTNLYGRHD WRLKGSLSRG 

        70         80         90        100        110        120 
DWYKTKEILL KGPDWILGEI KTSGLRGRGG AGFPTGLKWS FMNKPSDGRP KYLVVNADEG 

       130        140        150        160        170        180 
EPGTCKDREI LRHDPHKLLE GCLVGGRAMG ARAAYIYIRG EFYNEASNLQ VAIREAYEAG 

       190        200        210        220        230        240 
LIGKNACGSG YDFDVFVVRG AGAYICGEET ALIESIEGKQ GKPRLKPPFP ADVGVFGCPT 

       250        260        270        280        290        300 
TVANVETVAV SPTICRRGGT WFAGFGRERN SGTKLFNISG HVNHPCTVEE EMSVPLKELI 

       310        320        330        340        350        360 
EKHAGGVTGG WDNLLAVIPG GSSTPLIPKS VCETVLMDFD ALVQAQTGLG TAAVIVMDRS 

       370        380        390        400        410        420 
TDIVKAIARL IEFYKHESCG QCTPCREGVD WMNKVMARFV RGDARPAEID SLWEISKQIE 

       430        440        450        460 
GHTICALGDG AAWPVQGLIR HFRPELEERM QRFAQQHQAR QAAS 

« Hide

Isoform 2 [UniParc].

Checksum: 14B14974F7966121
Show »

FASTA45549,868

References

« Hide 'large scale' references
[1]"The structure of the human NDUFV1 gene encoding the 51-kDa subunit of mitochondrial complex I."
de Coo R.F.M., Buddiger P.A., Smeets H.J.M., van Oost B.A.
Mamm. Genome 10:49-53(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?"
Schuelke M., Loeffen J., Mariman E., Smeitink J., van den Heuvel L.
Biochem. Biophys. Res. Commun. 245:599-606(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
[3]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Pituitary.
[4]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain and Eye.
[7]"The human mitochondrial NADH: ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13."
Spencer S.R., Taylor J.B., Cowell I.G., Xia C.L., Pemble S.E., Ketterer B.
Genomics 14:1116-1118(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-130.
[8]"Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13."
Ali S.T., Duncan A.M.V., Schappert K.T., Heng H.H.Q., Tsui L.-C., Chow W., Robinson B.H.
Genomics 18:435-439(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 87-305.
Tissue: Kidney.
[9]"The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification."
Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., Ghosh S.S., Capaldi R.A.
J. Biol. Chem. 278:13619-13622(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy."
Schuelke M., Smeitink J., Mariman E., Loeffen J., Plecko B., Trijbels F., Stockler-Ipsiroglu S., van den Heuvel L.
Nat. Genet. 21:260-261(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MT-C1D VAL-341, VARIANT LS MET-423.
[12]"Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency."
Benit P., Chretien D., Kadhom N., de Lonlay-Debeney P., Cormier-Daire V., Cabral A., Peudenier S., Rustin P., Munnich A., Roetig A.
Am. J. Hum. Genet. 68:1344-1352(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MT-C1D LYS-214.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Y17379 expand/collapse EMBL AC list , Y17380, Y17381, Y17382, Y17383 Genomic DNA. Translation: CAA76757.1.
AF053069 Genomic DNA. Translation: AAC39750.1.
AF053070 mRNA. Translation: AAC39722.1.
AF092131 mRNA. Translation: AAD40373.1.
CR456739 mRNA. Translation: CAG33020.1.
CH471076 Genomic DNA. Translation: EAW74655.1.
BC008146 mRNA. Translation: AAH08146.1.
BC015645 mRNA. Translation: AAH15645.1.
AH004147 Genomic DNA. Translation: AAB24883.1.
S67973 mRNA. Translation: AAB29698.2. Sequence problems.
CCDSCCDS53669.1. [P49821-2]
CCDS8173.1. [P49821-1]
PIRJE0092.
RefSeqNP_001159574.1. NM_001166102.1. [P49821-2]
NP_009034.2. NM_007103.3. [P49821-1]
UniGeneHs.7744.

3D structure databases

ProteinModelPortalP49821.
SMRP49821. Positions 38-445.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110802. 36 interactions.
IntActP49821. 4 interactions.
MINTMINT-1444762.
STRING9606.ENSP00000322450.

Chemistry

ChEMBLCHEMBL2363065.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteP49821.

Polymorphism databases

DMDM20455501.

2D gel databases

REPRODUCTION-2DPAGEIPI00028520.
IPI00221298.

Proteomic databases

MaxQBP49821.
PaxDbP49821.
PRIDEP49821.

Protocols and materials databases

DNASU4723.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000322776; ENSP00000322450; ENSG00000167792. [P49821-1]
ENST00000529927; ENSP00000436766; ENSG00000167792. [P49821-2]
GeneID4723.
KEGGhsa:4723.
UCSCuc001omj.2. human. [P49821-1]
uc001omk.4. human. [P49821-2]

Organism-specific databases

CTD4723.
GeneCardsGC11P067374.
HGNCHGNC:7716. NDUFV1.
HPAHPA045211.
MIM161015. gene.
252010. phenotype.
256000. phenotype.
neXtProtNX_P49821.
Orphanet2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBPA31526.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1894.
HOVERGENHBG006542.
InParanoidP49821.
KOK03942.
OMAKWSFMNP.
OrthoDBEOG7327NS.
PhylomeDBP49821.
TreeFamTF300381.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressP49821.
BgeeP49821.
CleanExHS_NDUFV1.
GenevestigatorP49821.

Family and domain databases

InterProIPR001949. NADH-UbQ_OxRdtase_51kDa_CS.
IPR019575. NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd.
IPR011537. NADH-UbQ_OxRdtase_suF.
IPR011538. NADH_UbQ_OxRdtase_51kDa_su.
IPR019554. Soluble_ligand-bd.
[Graphical view]
PfamPF01512. Complex1_51K. 1 hit.
PF10589. NADH_4Fe-4S. 1 hit.
PF10531. SLBB. 1 hit.
[Graphical view]
SMARTSM00928. NADH_4Fe-4S. 1 hit.
[Graphical view]
TIGRFAMsTIGR01959. nuoF_fam. 1 hit.
PROSITEPS00644. COMPLEX1_51K_1. 1 hit.
PS00645. COMPLEX1_51K_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNDUFV1. human.
GeneWikiNDUFV1.
GenomeRNAi4723.
NextBio18214.
PROP49821.
SOURCESearch...

Entry information

Entry nameNDUV1_HUMAN
AccessionPrimary (citable) accession number: P49821
Secondary accession number(s): O60924 expand/collapse secondary AC list , O60940, Q16104, Q6IBR3, Q96BF8, Q96HS7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 2, 2002
Last modified: July 9, 2014
This is version 151 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM