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Protein

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

Gene

NDUFV1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Keywords - Ligandi

4Fe-4S, Flavoprotein, FMN, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

Enzyme and pathway databases

BioCyciZFISH:HS09641-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended 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 namesi
Name:NDUFV1
Synonyms:UQOR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:7716. NDUFV1.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: UniProtKB
  • mitochondrial respiratory chain complex I Source: UniProtKB
Complete GO annotation...

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 rs121913659dbSNPEnsembl.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 rs121913661dbSNPEnsembl.1
Natural variantiVAR_008846341A → V in MT-C1D. 1 PublicationCorresponds to variant rs121913660dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

DisGeNETi4723.
MalaCardsiNDUFV1.
MIMi252010. phenotype.
256000. phenotype.
OpenTargetsiENSG00000167792.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31526.

Chemistry databases

ChEMBLiCHEMBL2363065.

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.

2D gel databases

REPRODUCTION-2DPAGEIPI00028520.
IPI00221298.

PTM databases

iPTMnetiP49821.
PhosphoSitePlusiP49821.
SwissPalmiP49821.

Expressioni

Gene expression databases

BgeeiENSG00000167792.
CleanExiHS_NDUFV1.
ExpressionAtlasiP49821. baseline and differential.
GenevisibleiP49821. HS.

Organism-specific databases

HPAiHPA045211.

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. 89 interactors.
IntActiP49821. 31 interactors.
MINTiMINT-1444762.
STRINGi9606.ENSP00000322450.

Structurei

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.
OMAiGTTWMMN.
OrthoDBiEOG091G05AF.
PhylomeDBiP49821.
TreeFamiTF300381.

Family and domain databases

InterProiIPR001949. NADH-UbQ_OxRdtase_51kDa_CS.
IPR011537. NADH-UbQ_OxRdtase_suF.
IPR011538. Nuo51_FMN-bd.
IPR019575. Nuop51_4Fe4S-bd.
IPR019554. Soluble_ligand-bd.
[Graphical view]
PfamiPF01512. Complex1_51K. 1 hit.
PF10589. NADH_4Fe-4S. 1 hit.
PF10531. SLBB. 1 hit.
[Graphical view]
SMARTiSM00928. NADH_4Fe-4S. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01959. nuoF_fam. 1 hit.
PROSITEiPS00644. COMPLEX1_51K_1. 1 hit.
PS00645. COMPLEX1_51K_2. 1 hit.
[Graphical view]

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

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

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 rs1800670dbSNPEnsembl.1
Natural variantiVAR_019534214E → K in MT-C1D. 1 PublicationCorresponds to variant rs121913661dbSNPEnsembl.1
Natural variantiVAR_014481277N → Y.Corresponds to variant rs1043770dbSNPEnsembl.1
Natural variantiVAR_008846341A → V in MT-C1D. 1 PublicationCorresponds to variant rs121913660dbSNPEnsembl.1
Natural variantiVAR_008847423T → M in LS. 1 PublicationCorresponds to variant rs121913659dbSNPEnsembl.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

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

ProteinModelPortaliP49821.
SMRiP49821.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110802. 89 interactors.
IntActiP49821. 31 interactors.
MINTiMINT-1444762.
STRINGi9606.ENSP00000322450.

Chemistry databases

ChEMBLiCHEMBL2363065.

PTM databases

iPTMnetiP49821.
PhosphoSitePlusiP49821.
SwissPalmiP49821.

Polymorphism and mutation databases

BioMutaiNDUFV1.
DMDMi20455501.

2D gel databases

REPRODUCTION-2DPAGEIPI00028520.
IPI00221298.

Proteomic databases

EPDiP49821.
MaxQBiP49821.
PaxDbiP49821.
PeptideAtlasiP49821.
PRIDEiP49821.

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.
GeneCardsiNDUFV1.
HGNCiHGNC:7716. NDUFV1.
HPAiHPA045211.
MalaCardsiNDUFV1.
MIMi161015. gene.
252010. phenotype.
256000. phenotype.
neXtProtiNX_P49821.
OpenTargetsiENSG00000167792.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31526.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2658. Eukaryota.
COG1894. LUCA.
GeneTreeiENSGT00390000010641.
HOVERGENiHBG006542.
InParanoidiP49821.
KOiK03942.
OMAiGTTWMMN.
OrthoDBiEOG091G05AF.
PhylomeDBiP49821.
TreeFamiTF300381.

Enzyme and pathway databases

BioCyciZFISH:HS09641-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

ChiTaRSiNDUFV1. human.
GeneWikiiNDUFV1.
GenomeRNAii4723.
PROiP49821.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000167792.
CleanExiHS_NDUFV1.
ExpressionAtlasiP49821. baseline and differential.
GenevisibleiP49821. HS.

Family and domain databases

InterProiIPR001949. NADH-UbQ_OxRdtase_51kDa_CS.
IPR011537. NADH-UbQ_OxRdtase_suF.
IPR011538. Nuo51_FMN-bd.
IPR019575. Nuop51_4Fe4S-bd.
IPR019554. Soluble_ligand-bd.
[Graphical view]
PfamiPF01512. Complex1_51K. 1 hit.
PF10589. NADH_4Fe-4S. 1 hit.
PF10531. SLBB. 1 hit.
[Graphical view]
SMARTiSM00928. NADH_4Fe-4S. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01959. nuoF_fam. 1 hit.
PROSITEiPS00644. COMPLEX1_51K_1. 1 hit.
PS00645. COMPLEX1_51K_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNDUV1_HUMAN
AccessioniPrimary (citable) accession number: P49821
Secondary accession number(s): O60924
, O60940, Q16104, Q6IBR3, Q96BF8, Q96HS7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 2, 2002
Last modified: November 2, 2016
This is version 173 of the entry and version 4 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.