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P49821

- NDUV1_HUMAN

UniProt

P49821 - NDUV1_HUMAN

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Protein

NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial

Gene

NDUFV1

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 FMN.Curated
Binds 1 4Fe-4S cluster.Curated

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi379 – 3791Iron-sulfur (4Fe-4S)Sequence Analysis
Metal bindingi382 – 3821Iron-sulfur (4Fe-4S)Sequence Analysis
Metal bindingi385 – 3851Iron-sulfur (4Fe-4S)Sequence Analysis
Metal bindingi425 – 4251Iron-sulfur (4Fe-4S)Sequence Analysis

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi87 – 9610NAD(H)By similarity
Nucleotide bindingi199 – 24749FMNBy similarityAdd
BLAST

GO - Molecular functioni

  1. 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  2. FMN binding Source: InterPro
  3. metal ion binding Source: UniProtKB-KW
  4. NAD binding Source: InterPro
  5. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  3. respiratory electron transport chain Source: Reactome
  4. small molecule metabolic process Source: Reactome
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

ReactomeiREACT_22393. Respiratory electron transport.

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
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:7716. NDUFV1.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrial inner membrane Source: UniProtKB
  2. 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) [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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti423 – 4231T → M in LS. 1 Publication
VAR_008847
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.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti214 – 2141E → K in MT-C1D. 1 Publication
VAR_019534
Natural varianti341 – 3411A → V in MT-C1D. 1 Publication
VAR_008846

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2020MitochondrionBy similarityAdd
BLAST
Chaini21 – 464444NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrialPRO_0000019976Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei81 – 811N6-acetyllysine; alternateBy similarity
Modified residuei81 – 811N6-succinyllysine; alternateBy similarity
Modified residuei104 – 1041N6-acetyllysineBy similarity
Modified residuei375 – 3751N6-acetyllysineBy similarity

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiP49821.
PaxDbiP49821.
PRIDEiP49821.

2D gel databases

REPRODUCTION-2DPAGEIPI00028520.
IPI00221298.

PTM databases

PhosphoSiteiP49821.

Expressioni

Gene expression databases

BgeeiP49821.
CleanExiHS_NDUFV1.
ExpressionAtlasiP49821. baseline and differential.
GenevestigatoriP49821.

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. 37 interactions.
IntActiP49821. 4 interactions.
MINTiMINT-1444762.
STRINGi9606.ENSP00000322450.

Structurei

3D structure databases

ProteinModelPortaliP49821.
SMRiP49821. Positions 38-445.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I 51 kDa subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1894.
GeneTreeiENSGT00390000010641.
HOVERGENiHBG006542.
InParanoidiP49821.
KOiK03942.
OMAiKWSFMNP.
OrthoDBiEOG7327NS.
PhylomeDBiP49821.
TreeFamiTF300381.

Family and domain databases

InterProiIPR001949. 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]
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti80 – 801I → V in AAB24883. (PubMed:1478657)Curated
Sequence conflicti150 – 1501G → A in AAB29698. (PubMed:8288251)Curated
Sequence conflicti306 – 3061G → F in CAA76757. (PubMed:9892733)Curated
Sequence conflicti313 – 3131N → Y in CAA76757. (PubMed:9892733)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761I → V.
Corresponds to variant rs1800670 [ dbSNP | Ensembl ].
VAR_014480
Natural varianti214 – 2141E → K in MT-C1D. 1 Publication
VAR_019534
Natural varianti277 – 2771N → Y.
Corresponds to variant rs1043770 [ dbSNP | Ensembl ].
VAR_014481
Natural varianti341 – 3411A → V in MT-C1D. 1 Publication
VAR_008846
Natural varianti423 – 4231T → M in LS. 1 Publication
VAR_008847

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei16 – 249Missing in isoform 2. 1 PublicationVSP_003730

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.2. human. [P49821-1]
uc001omk.4. human. [P49821-2]

Polymorphism databases

DMDMi20455501.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS53669.1. [P49821-2 ]
CCDS8173.1. [P49821-1 ]
PIRi JE0092.
RefSeqi NP_001159574.1. NM_001166102.1. [P49821-2 ]
NP_009034.2. NM_007103.3. [P49821-1 ]
UniGenei Hs.7744.

3D structure databases

ProteinModelPortali P49821.
SMRi P49821. Positions 38-445.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 110802. 37 interactions.
IntActi P49821. 4 interactions.
MINTi MINT-1444762.
STRINGi 9606.ENSP00000322450.

Chemistry

ChEMBLi CHEMBL2363065.

PTM databases

PhosphoSitei P49821.

Polymorphism databases

DMDMi 20455501.

2D gel databases

REPRODUCTION-2DPAGE IPI00028520.
IPI00221298.

Proteomic databases

MaxQBi P49821.
PaxDbi P49821.
PRIDEi P49821.

Protocols and materials databases

DNASUi 4723.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000322776 ; ENSP00000322450 ; ENSG00000167792 . [P49821-1 ]
ENST00000529927 ; ENSP00000436766 ; ENSG00000167792 . [P49821-2 ]
GeneIDi 4723.
KEGGi hsa:4723.
UCSCi uc001omj.2. human. [P49821-1 ]
uc001omk.4. human. [P49821-2 ]

Organism-specific databases

CTDi 4723.
GeneCardsi GC11P067374.
HGNCi HGNC:7716. NDUFV1.
HPAi HPA045211.
MIMi 161015. gene.
252010. phenotype.
256000. phenotype.
neXtProti NX_P49821.
Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBi PA31526.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1894.
GeneTreei ENSGT00390000010641.
HOVERGENi HBG006542.
InParanoidi P49821.
KOi K03942.
OMAi KWSFMNP.
OrthoDBi EOG7327NS.
PhylomeDBi P49821.
TreeFami TF300381.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

ChiTaRSi NDUFV1. human.
GeneWikii NDUFV1.
GenomeRNAii 4723.
NextBioi 18214.
PROi P49821.
SOURCEi Search...

Gene expression databases

Bgeei P49821.
CleanExi HS_NDUFV1.
ExpressionAtlasi P49821. baseline and differential.
Genevestigatori P49821.

Family and domain databases

InterProi IPR001949. 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 ]
Pfami PF01512. Complex1_51K. 1 hit.
PF10589. NADH_4Fe-4S. 1 hit.
PF10531. SLBB. 1 hit.
[Graphical view ]
SMARTi SM00928. NADH_4Fe-4S. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR01959. nuoF_fam. 1 hit.
PROSITEi PS00644. COMPLEX1_51K_1. 1 hit.
PS00645. COMPLEX1_51K_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. 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.

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: October 29, 2014
This is version 154 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

External Data

Dasty 3