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Reviewed, UniProtKB/Swiss-Prot P49821 (NDUV1_HUMAN)

Last modified July 7, 2009. Version 98. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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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):
    NADH-ubiquinone oxidoreductase 51 kDa subunit
    Complex I-51kD
      Short name=CI-51kD
    NADH dehydrogenase flavoprotein 1
Gene names
Name: NDUFV1
Synonyms: UQOR1
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

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

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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 = NAD+ + ubiquinol.

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.

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Involvement in disease

Defects in NDUFV1 are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe neurological disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions. Ref.8

Defects in NDUFV1 are a cause of mitochondrial complex I deficiency [MIM:252010]. Complex I (NADH-ubiquinone oxidoreductase), the largest complex of the mitochondrial respiratory chain, contains more than 40 subunits. It is embedded in the inner mitochondrial membrane and is partly protruding in the matrix. Complex I deficiency is the most common cause of mitochondrial disorders. It represents largely one-third of all cases of respiratory chain deficiency and is responsible for a variety of clinical symptoms, ranging from neurological disorders to cardiomyopathy, liver failure, and myopathy.

Sequence similarities

Belongs to the complex I 51 kDa subunit family.

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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.

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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 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: dbSNP rs1800670.
VAR_014480
Natural variant2141E → K in complex I deficiency. Ref.9
VAR_019534
Natural variant2771N → Y: dbSNP rs1043770.
VAR_014481
Natural variant3411A → V in mitochondrial complex I deficiency. Ref.8
VAR_008846
Natural variant4231T → M in LS. Ref.8
VAR_008847

Experimental info

Sequence conflict801I → V in AAB24883. Ref.5
Sequence conflict1501G → A in AAB29698. Ref.6
Sequence conflict3061G → F in CAA76757. Ref.1
Sequence conflict3131N → Y in CAA76757. Ref.1

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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.

Checksum: 14B14974F7966121
Show »

FASTA45549,868

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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: 9892733] [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: 9571201] [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: 10931946] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Pituitary.
[4]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Brain and Eye.
[5]"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: 1478657] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-130.
[6]"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: 8288251] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 87-305.
Tissue: Kidney.
[7]Colinge J., Superti-Furga G., Bennett K.L.
Submitted (OCT-2008) to UniProtKB
Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[8]"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: 10080174] [Abstract]
Cited for: VARIANT MITOCHONDRIAL COMPLEX I DEFICIENCY VAL-341, VARIANT LS MET-423.
[9]"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: 11349233] [Abstract]
Cited for: VARIANT COMPLEX I DEFICIENCY LYS-214.
+Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases

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.
BC008146 mRNA. Translation: AAH08146.1.
BC015645 mRNA. Translation: AAH15645.1.
S52526, S53175 Genomic DNA. Translation: AAB24883.1.
S67973 mRNA. Translation: AAB29698.2. Sequence problems.
IPIIPI00028520.
IPI00221298.
PIRJE0092.
RefSeqNP_009034.2.
UniGeneHs.7744

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActP49821. 1 interaction.

PTM databases

PhosphoSiteP49821.

2-D gel databases

REPRODUCTION-2DPAGEIPI00028520.
IPI00221298.

Proteomic databases

PRIDEP49821.

Genome annotation databases

EnsemblENSG00000167792. Homo sapiens. [Contig view]
GeneID4723.
KEGGhsa:4723.
UCSCuc001omj.2. human.
uc001omk.2. human.

Organism-specific databases

GeneCardsGC11P067130.
H-InvDBHIX0009867.
HGNCHGNC:7716. NDUFV1.
MIM161015. gene.
252010. phenotype.
256000. phenotype.
Orphanet58. Alexander disease.
506. Leigh syndrome.
2609. NADH-CoQ reductase deficiency.
PharmGKBPA31526.
GenAtlasSearch...

Phylogenomic databases

HOVERGENP49821.
OMAP49821. PCNVEEE.

Enzyme and pathway databases

BRENDA1.6.5.3. 247.
1.6.99.3. 247.
ReactomeREACT_1505. Integration of energy metabolism.
REACT_15380. Diabetes pathways.

Gene expression databases

ArrayExpressP49821.
BgeeP49821.
CleanExHS_NDUFV1.
GermOnlineENSG00000167792. Homo sapiens.

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]
TIGRFAMsTIGR01959. nuoF_fam. 1 hit.
PROSITEPS00644. COMPLEX1_51K_1. 1 hit.
PS00645. COMPLEX1_51K_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

DrugBankDB00157. NADH.
NextBio18214.
SOURCESearch...

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Entry information

Entry nameNDUV1_HUMAN
AccessionPrimary (citable) accession number: P49821
Secondary accession number(s): O60924 expand/collapse secondary AC list , O60940, Q16104, Q96BF8, Q96HS7
Entry history
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: May 2, 2002
Last modified: July 7, 2009
This is version 98 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 11

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Alternative products · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents