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Protein

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

Gene

NDUFV1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).By similarity

Catalytic activityi

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

Cofactori

Protein has several cofactor binding sites:
  • FMNCuratedNote: Binds 1 FMN.Curated
  • [4Fe-4S] clusterCuratedNote: Binds 1 [4Fe-4S] cluster.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi379Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi382Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi385Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi425Iron-sulfur (4Fe-4S)Sequence analysis1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi87 – 96NAD(H)By similarity10
Nucleotide bindingi199 – 247FMNBy similarityAdd BLAST49

GO - Molecular functioni

GO - Biological processi

  • mitochondrial ATP synthesis coupled electron transport Source: CAFA
  • mitochondrial electron transport, NADH to ubiquinone Source: GO_Central
  • mitochondrial respiratory chain complex I assembly Source: Reactome

Keywordsi

Molecular functionOxidoreductase, Translocase
Biological processElectron transport, Respiratory chain, Transport
Ligand4Fe-4S, Flavoprotein, FMN, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis
SIGNORiP49821

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial (EC:1.6.99.3, EC:7.1.1.2)
Alternative name(s):
Complex I-51kD
Short name:
CI-51kD
NADH dehydrogenase flavoprotein 1
NADH-ubiquinone oxidoreductase 51 kDa subunit
Gene namesi
Name:NDUFV1
Synonyms:UQOR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000167792.11
HGNCiHGNC:7716 NDUFV1
MIMi161015 gene
neXtProtiNX_P49821

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome (LS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008847423T → M in LS. 1 PublicationCorresponds to variant dbSNP:rs121913659EnsemblClinVar.1
Mitochondrial complex I deficiency (MT-C1D)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:252010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019534214E → K in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121913661EnsemblClinVar.1
Natural variantiVAR_008846341A → V in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121913660EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4723
MalaCardsiNDUFV1
MIMi252010 phenotype
256000 phenotype
OpenTargetsiENSG00000167792
Orphaneti2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy
PharmGKBiPA31526

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiNDUFV1
DMDMi20455501

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 20MitochondrionBy similarityAdd BLAST20
ChainiPRO_000001997621 – 464NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrialAdd BLAST444

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei81N6-acetyllysine; alternateBy similarity1
Modified residuei81N6-succinyllysine; alternateBy similarity1
Modified residuei104N6-acetyllysineBy similarity1
Modified residuei257Omega-N-methylarginineBy similarity1
Modified residuei375N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Methylation

Proteomic databases

EPDiP49821
MaxQBiP49821
PaxDbiP49821
PeptideAtlasiP49821
PRIDEiP49821
ProteomicsDBi56148
56149 [P49821-2]

2D gel databases

REPRODUCTION-2DPAGEiIPI00028520
IPI00221298

PTM databases

CarbonylDBiP49821
iPTMnetiP49821
PhosphoSitePlusiP49821
SwissPalmiP49821

Expressioni

Gene expression databases

BgeeiENSG00000167792 Expressed in 227 organ(s), highest expression level in apex of heart
CleanExiHS_NDUFV1
ExpressionAtlasiP49821 baseline and differential
GenevisibleiP49821 HS

Organism-specific databases

HPAiHPA045211
HPA075051

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.1 Publication

Protein-protein interaction databases

BioGridi110802, 93 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiP49821
IntActiP49821, 50 interactors
MINTiP49821
STRINGi9606.ENSP00000322450

Structurei

Secondary structure

1464
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP49821
SMRiP49821
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I 51 kDa subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2658 Eukaryota
COG1894 LUCA
GeneTreeiENSGT00390000010641
HOVERGENiHBG006542
InParanoidiP49821
KOiK03942
OMAiSGMKWSF
OrthoDBiEOG091G05AF
PhylomeDBiP49821
TreeFamiTF300381

Family and domain databases

Gene3Di1.20.1440.230, 1 hit
3.40.50.11540, 1 hit
InterProiView protein in InterPro
IPR001949 NADH-UbQ_OxRdtase_51kDa_CS
IPR011537 NADH-UbQ_OxRdtase_suF
IPR011538 Nuo51_FMN-bd
IPR037225 Nuo51_FMN-bd_sf
IPR019575 Nuop51_4Fe4S-bd
IPR037207 Nuop51_4Fe4S-bd_sf
IPR019554 Soluble_ligand-bd
PANTHERiPTHR11780 PTHR11780, 1 hit
PfamiView protein in Pfam
PF01512 Complex1_51K, 1 hit
PF10589 NADH_4Fe-4S, 1 hit
PF10531 SLBB, 1 hit
SMARTiView protein in SMART
SM00928 NADH_4Fe-4S, 1 hit
SUPFAMiSSF140490 SSF140490, 1 hit
SSF142019 SSF142019, 1 hit
TIGRFAMsiTIGR01959 nuoF_fam, 1 hit
PROSITEiView protein in PROSITE
PS00644 COMPLEX1_51K_1, 1 hit
PS00645 COMPLEX1_51K_2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P49821-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MLATRRLLGW SLPARVSVRF SGDTTAPKKT SFGSLKDEDR IFTNLYGRHD
60 70 80 90 100
WRLKGSLSRG DWYKTKEILL KGPDWILGEI KTSGLRGRGG AGFPTGLKWS
110 120 130 140 150
FMNKPSDGRP KYLVVNADEG EPGTCKDREI LRHDPHKLLE GCLVGGRAMG
160 170 180 190 200
ARAAYIYIRG EFYNEASNLQ VAIREAYEAG LIGKNACGSG YDFDVFVVRG
210 220 230 240 250
AGAYICGEET ALIESIEGKQ GKPRLKPPFP ADVGVFGCPT TVANVETVAV
260 270 280 290 300
SPTICRRGGT WFAGFGRERN SGTKLFNISG HVNHPCTVEE EMSVPLKELI
310 320 330 340 350
EKHAGGVTGG WDNLLAVIPG GSSTPLIPKS VCETVLMDFD ALVQAQTGLG
360 370 380 390 400
TAAVIVMDRS TDIVKAIARL IEFYKHESCG QCTPCREGVD WMNKVMARFV
410 420 430 440 450
RGDARPAEID SLWEISKQIE GHTICALGDG AAWPVQGLIR HFRPELEERM
460
QRFAQQHQAR QAAS
Length:464
Mass (Da):50,817
Last modified:May 2, 2002 - v4
Checksum:i8C261EA3B0267256
GO
Isoform 2 (identifier: P49821-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     16-24: Missing.

Note: No experimental confirmation available.
Show »
Length:455
Mass (Da):49,868
Checksum:i14B14974F7966121
GO

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V0I5G3V0I5_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1 hCG_21057
457Annotation score:
B4DE93B4DE93_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
363Annotation score:
E9PLC6E9PLC6_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
136Annotation score:
E9PMX3E9PMX3_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
178Annotation score:
H0YE81H0YE81_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
133Annotation score:
E9PPR0E9PPR0_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
144Annotation score:
H0YD04H0YD04_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
127Annotation score:
E9PJL9E9PJL9_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
95Annotation score:
E9PPD6E9PPD6_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
52Annotation score:
E9PQP1E9PQP1_HUMAN
NADH dehydrogenase [ubiquinone] fla...
NDUFV1
178Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti80I → V in AAB24883 (PubMed:1478657).Curated1
Sequence conflicti150G → A in AAB29698 (PubMed:8288251).Curated1
Sequence conflicti306G → F in CAA76757 (PubMed:9892733).Curated1
Sequence conflicti313N → Y in CAA76757 (PubMed:9892733).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01448076I → V. Corresponds to variant dbSNP:rs1800670Ensembl.1
Natural variantiVAR_019534214E → K in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121913661EnsemblClinVar.1
Natural variantiVAR_014481277N → Y. Corresponds to variant dbSNP:rs1043770Ensembl.1
Natural variantiVAR_008846341A → V in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs121913660EnsemblClinVar.1
Natural variantiVAR_008847423T → M in LS. 1 PublicationCorresponds to variant dbSNP:rs121913659EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00373016 – 24Missing in isoform 2. 1 Publication9

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y17379
, 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.
CCDSiCCDS53669.1 [P49821-2]
CCDS8173.1 [P49821-1]
PIRiJE0092
RefSeqiNP_001159574.1, NM_001166102.1 [P49821-2]
NP_009034.2, NM_007103.3 [P49821-1]
UniGeneiHs.7744

Genome annotation databases

EnsembliENST00000322776; ENSP00000322450; ENSG00000167792 [P49821-1]
ENST00000529927; ENSP00000436766; ENSG00000167792 [P49821-2]
GeneIDi4723
KEGGihsa:4723
UCSCiuc001omj.3 human [P49821-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Y17379
, 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.
CCDSiCCDS53669.1 [P49821-2]
CCDS8173.1 [P49821-1]
PIRiJE0092
RefSeqiNP_001159574.1, NM_001166102.1 [P49821-2]
NP_009034.2, NM_007103.3 [P49821-1]
UniGeneiHs.7744

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTBelectron microscopy3.40A27-457[»]
5XTDelectron microscopy3.70A27-457[»]
5XTHelectron microscopy3.90A27-457[»]
5XTIelectron microscopy17.40A/BA27-457[»]
ProteinModelPortaliP49821
SMRiP49821
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110802, 93 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiP49821
IntActiP49821, 50 interactors
MINTiP49821
STRINGi9606.ENSP00000322450

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

PTM databases

CarbonylDBiP49821
iPTMnetiP49821
PhosphoSitePlusiP49821
SwissPalmiP49821

Polymorphism and mutation databases

BioMutaiNDUFV1
DMDMi20455501

2D gel databases

REPRODUCTION-2DPAGEiIPI00028520
IPI00221298

Proteomic databases

EPDiP49821
MaxQBiP49821
PaxDbiP49821
PeptideAtlasiP49821
PRIDEiP49821
ProteomicsDBi56148
56149 [P49821-2]

Protocols and materials databases

DNASUi4723
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322776; ENSP00000322450; ENSG00000167792 [P49821-1]
ENST00000529927; ENSP00000436766; ENSG00000167792 [P49821-2]
GeneIDi4723
KEGGihsa:4723
UCSCiuc001omj.3 human [P49821-1]

Organism-specific databases

CTDi4723
DisGeNETi4723
EuPathDBiHostDB:ENSG00000167792.11
GeneCardsiNDUFV1
HGNCiHGNC:7716 NDUFV1
HPAiHPA045211
HPA075051
MalaCardsiNDUFV1
MIMi161015 gene
252010 phenotype
256000 phenotype
neXtProtiNX_P49821
OpenTargetsiENSG00000167792
Orphaneti2609 Isolated complex I deficiency
255241 Leigh syndrome with leukodystrophy
PharmGKBiPA31526
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2658 Eukaryota
COG1894 LUCA
GeneTreeiENSGT00390000010641
HOVERGENiHBG006542
InParanoidiP49821
KOiK03942
OMAiSGMKWSF
OrthoDBiEOG091G05AF
PhylomeDBiP49821
TreeFamiTF300381

Enzyme and pathway databases

ReactomeiR-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis
SIGNORiP49821

Miscellaneous databases

ChiTaRSiNDUFV1 human
GeneWikiiNDUFV1
GenomeRNAii4723
PROiPR:P49821
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167792 Expressed in 227 organ(s), highest expression level in apex of heart
CleanExiHS_NDUFV1
ExpressionAtlasiP49821 baseline and differential
GenevisibleiP49821 HS

Family and domain databases

Gene3Di1.20.1440.230, 1 hit
3.40.50.11540, 1 hit
InterProiView protein in InterPro
IPR001949 NADH-UbQ_OxRdtase_51kDa_CS
IPR011537 NADH-UbQ_OxRdtase_suF
IPR011538 Nuo51_FMN-bd
IPR037225 Nuo51_FMN-bd_sf
IPR019575 Nuop51_4Fe4S-bd
IPR037207 Nuop51_4Fe4S-bd_sf
IPR019554 Soluble_ligand-bd
PANTHERiPTHR11780 PTHR11780, 1 hit
PfamiView protein in Pfam
PF01512 Complex1_51K, 1 hit
PF10589 NADH_4Fe-4S, 1 hit
PF10531 SLBB, 1 hit
SMARTiView protein in SMART
SM00928 NADH_4Fe-4S, 1 hit
SUPFAMiSSF140490 SSF140490, 1 hit
SSF142019 SSF142019, 1 hit
TIGRFAMsiTIGR01959 nuoF_fam, 1 hit
PROSITEiView protein in PROSITE
PS00644 COMPLEX1_51K_1, 1 hit
PS00645 COMPLEX1_51K_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDUV1_HUMAN
AccessioniPrimary (citable) accession number: P49821
Secondary accession number(s): O60924
, O60940, Q16104, Q6IBR3, Q96BF8, Q96HS7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 2, 2002
Last modified: November 7, 2018
This is version 191 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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