P19404 (NDUV2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
EC=1.6.5.3
EC=1.6.99.3

Alternative name(s):
NADH-ubiquinone oxidoreductase 24 kDa subunit

Gene names

Name:

NDUFV2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	249 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 = NAD+ + ubiquinol. NADH + acceptor = NAD+ + reduced acceptor.
Cofactor	Binds 1 2Fe-2S 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.3
Subcellular location	Mitochondrion inner membrane.
Sequence similarities	Belongs to the complex I 24 kDa subunit family.

Ontologies

Keywords
Biological process	Electron transport Respiratory chain Transport
Cellular component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Polymorphism
Domain	Transit peptide
Ligand	2Fe-2S Iron Iron-sulfur Metal-binding NAD Ubiquinone
Molecular function	Oxidoreductase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	cardiac muscle tissue development Inferred from mutant phenotype PubMed 12754703. Source: UniProtKB mitochondrial electron transport, NADH to ubiquinone Inferred from mutant phenotype PubMed 12754703. Source: UniProtKB nervous system development Inferred from mutant phenotype PubMed 9570948. Source: UniProtKB small molecule metabolic process Traceable author statement. Source: Reactome
Cellular_component	mitochondrial respiratory chain complex I Inferred from direct assay Ref.3. Source: UniProtKB
Molecular_function	2 iron, 2 sulfur cluster binding Inferred from electronic annotation. Source: UniProtKB-KW NADH dehydrogenase (ubiquinone) activity Inferred from mutant phenotype PubMed 12754703. Source: UniProtKB electron carrier activity Non-traceable author statement PubMed 7488192. Source: UniProtKB metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 32	32	Mitochondrion
	Chain	33 – 249	217	NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial		PRO_0000020003
Sites
	Metal binding	135	1	Iron-sulfur (2Fe-2S) Potential
	Metal binding	140	1	Iron-sulfur (2Fe-2S) Potential
	Metal binding	176	1	Iron-sulfur (2Fe-2S) Potential
	Metal binding	180	1	Iron-sulfur (2Fe-2S) Potential
Natural variations
	Natural variant	29	1	V → A. Ref.1 Corresponds to variant rs906807 [ dbSNP | Ensembl ].		VAR_016167

Sequences

	Sequence		Length	Mass (Da)
	P19404 [UniParc]. Last modified May 2, 2002. Version 2. Checksum: AAF46ABB0908B177	FASTA	249	27,392
	10 20 30 40 50 60 MFFSAALRAR AAGLTAHWGR HVRNLHKTVM QNGAGGALFV HRDTPENNPD TPFDFTPENY 70 80 90 100 110 120 KRIEAIVKNY PEGHKAAAVL PVLDLAQRQN GWLPISAMNK VAEVLQVPPM RVYEVATFYT 130 140 150 160 170 180 MYNRKPVGKY HIQVCTTTPC MLRNSDSILE AIQKKLGIKV GETTPDKLFT LIEVECLGAC 190 200 210 220 230 240 VNAPMVQIND NYYEDLTAKD IEEIIDELKA GKIPKPGPRS GRFSCEPAGG LTSLTEPPKG PGFGVQAGL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Mitochondrial NADH-ubiquinone reductase: complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit." Pilkington S.J., Walker J.E. Biochemistry 28:3257-3264(1989) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT ALA-29.
[2]	"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]. Tissue: Lung.
[3]	"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: MASS SPECTROMETRY, IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX.
[4]	"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].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	M22538 mRNA. Translation: AAA75390.1. BC001632 mRNA. Translation: AAH01632.1. BC017487 mRNA. Translation: AAH17487.1.
IPI	IPI00291328.
PIR	A30113.
RefSeq	NP_066552.2. NM_021074.4.
UniGene	Hs.464572.
3D structure databases
ProteinModelPortal	P19404.
ModBase	Search...
Protein-protein interaction databases
IntAct	P19404. 8 interactions.
MINT	MINT-4991740.
STRING	9606.ENSP00000327268.
PTM databases
PhosphoSite	P19404.
Polymorphism databases
DMDM	20455499.
2D gel databases
SWISS-2DPAGE	P19404.
UCD-2DPAGE	P19404.
Proteomic databases
PaxDb	P19404.
PRIDE	P19404.
Protocols and materials databases
DNASU	4729.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000318388; ENSP00000327268; ENSG00000178127.
GeneID	4729.
KEGG	hsa:4729.
UCSC	uc002knu.3. human.
Organism-specific databases
CTD	4729.
GeneCards	GC18P009092.
HGNC	HGNC:7717. NDUFV2.
HPA	HPA003404.
MIM	600532. gene.
neXtProt	NX_P19404.
Orphanet	2609. Isolated NADH-CoQ reductase deficiency.
PharmGKB	PA31527.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG1905.
HOGENOM	HOG000257748.
HOVERGEN	HBG029601.
KO	K03943.
OrthoDB	EOG4QFWDW.
PhylomeDB	P19404.
Enzyme and pathway databases
Reactome	REACT_111217. Metabolism.
Gene expression databases
ArrayExpress	P19404.
Bgee	P19404.
CleanEx	HS_NDUFV2.
Genevestigator	P19404.
GermOnline	ENSG00000178127. Homo sapiens.
Family and domain databases
Gene3D	3.40.30.10. 1 hit.
InterPro	IPR002023. 2Fe-2S_Ferredox. IPR012336. Thioredoxin-like_fold. [Graphical view]
PANTHER	PTHR10371. PTHR10371. 1 hit.
Pfam	PF01257. Complex1_24kDa. 1 hit. [Graphical view]
SUPFAM	SSF52833. Thiordxn-like_fd. 1 hit.
TIGRFAMs	TIGR01958. nuoE_fam. 1 hit.
PROSITE	PS01099. COMPLEX1_24K. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	NDUFV2. human.
DrugBank	DB00157. NADH.
GenomeRNAi	4729.
NextBio	18234.
SOURCE	Search...

Entry information

Entry name

NDUV2_HUMAN

Accession

Primary (citable) accession number: P19404
Secondary accession number(s): Q9BV41

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1990
Last sequence update:	May 2, 2002
Last modified:	May 1, 2013
This is version 148 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.