Reviewed, UniProtKB/Swiss-Prot O75489 (NDUS3_HUMAN)

Names and origin

Protein names

Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
    EC=1.6.5.3
    EC=1.6.99.3
Alternative name(s):
    NADH-ubiquinone oxidoreductase 30 kDa subunit
    Complex I-30kD
      Short name=CI-30kD

Gene names

Name:

NDUFS3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	264 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.
Subunit structure	Mammalian complex I is composed of 45 different subunits.
Subcellular location	Mitochondrion inner membrane.
Sequence similarities	Belongs to the complex I 30 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	NAD Ubiquinone
Molecular function	Oxidoreductase
Technical term	Direct protein sequencing
Gene Ontology (GO)
Biological process	induction of apoptosis Inferred from mutant phenotype. Source: UniProtKB mitochondrial electron transport, NADH to ubiquinone Ref.1 Non-traceable author statement. Source: UniProtKB negative regulation of cell growth Inferred from mutant phenotype. Source: UniProtKB oxygen and reactive oxygen species metabolic process Inferred from mutant phenotype. Source: UniProtKB transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrial respiratory chain complex I Inferred from direct assay. Source: UniProtKB
Molecular function	NADH dehydrogenase (ubiquinone) activity Ref.1 Non-traceable author statement. Source: UniProtKB electron carrier activity Ref.1 Non-traceable author statement. Source: UniProtKB protein binding Inferred from physical interaction. Source: IntAct
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GZMA	P12544	1	EBI-1224896,EBI-519800

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 36	36	Mitochondrion By similarity
	Chain	37 – 264	228	NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial		PRO_0000019998
Natural variations
	Natural variant	249	1	P → Q: dbSNP rs9600.		VAR_012036
Experimental info
	Sequence conflict	1 – 7	7	MAAAAVA → MAAGRY Ref.3

Sequences

	Sequence		Length	Mass (Da)
	O75489-1 [UniParc]. Last modified November 1, 1998. Version 1. Checksum: C058D62779BEF17B	FASTA	264	30,242
	10 20 30 40 50 60 MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR NDVAHKQLSA 70 80 90 100 110 120 FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL RDHTNAQFKS LVDLTAVDVP 130 140 150 160 170 180 TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL TPIESAVSVF KAANWYEREI WDMFGVFFAN 190 200 210 220 230 240 HPDLRRILTD YGFEGHPFRK DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE 250 260 AFPVYRQPPE SLKLEAGDKK PDAK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed." Loeffen J., van den Heuvel L., Smeets R., Triepels R., Sengers R., Trijbels F., Smeitink J. Biochem. Biophys. Res. Commun. 247:751-758(1998) [PubMed: 9647766] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Human NDUFS3 gene coding for the 30-kDa subunit of mitochondrial Complex I: genomic organization and expression." Procaccio V., Lescuyer P., Bourges I., Beugnot R., Duborjal H., Depetris D., Mousson B., Montfort M.F., Smeets H., De Coo R., Issartel J.P. Mamm. Genome 11:808-810(2000) [PubMed: 10967146] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[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. , 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]. Tissue: Skin.
[5]	Lubec G., Vishwanath V. Submitted (MAR-2007) to UniProtKB Cited for: PROTEIN SEQUENCE OF 126-136 AND 187-199, MASS SPECTROMETRY. Tissue: Brain and Cajal-Retzius cell.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF067139 mRNA. Translation: AAC27451.1. AF200954 Genomic DNA. Translation: AAG17541.1. AF100743 mRNA. Translation: AAD40386.1. BC000617 mRNA. Translation: AAH00617.1.
PIR	JE0195.
RefSeq	NP_004542.1.
UniGene	Hs.502528
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O75489.
PTM databases
PhosphoSite	O75489.
2-D gel databases
REPRODUCTION-2DPAGE	IPI00025796. O75489.
Proteomic databases
PeptideAtlas	O75489.
Genome annotation databases
Ensembl	ENSG00000213619. Homo sapiens. [Contig view]
GeneID	4722.
KEGG	hsa:4722.
NMPDR	fig|9606.3.peg.5556.
Organism-specific databases
H-InvDB	HIX0009620. HIX0079399.
HGNC	HGNC:7710. NDUFS3.
HPA	HPA004484.
MIM	603846. gene.
Orphanet	506. Leigh syndrome. 2609. NADH-CoQ reductase deficiency.
PharmGKB	PA31520.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	O75489.
Enzyme and pathway databases
Reactome	REACT_6305. Electron Transport Chain.
Gene expression databases
ArrayExpress	O75489.
CleanEx	HS_NDUFS3.
GermOnline	ENSG00000110536. Homo sapiens.
Family and domain databases
InterPro	IPR010218. NADH_DH_csu. IPR001268. NADH_DHase_Ub_30kDa_su. [Graphical view]
Pfam	PF00329. Complex1_30kDa. 1 hit. [Graphical view]
ProDom	PD001581. Complex1_30K. 1 hit. [Graphical view] [Entries sharing at least one domain]
TIGRFAMs	TIGR01961. NuoC_fam. 1 hit.
PROSITE	PS00542. COMPLEX1_30K. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
DrugBank	DB00157. NADH.
NextBio	18210.
SOURCE	Search...

Entry information

Entry name

NDUS3_HUMAN

Accession

Primary (citable) accession number: O75489
Secondary accession number(s): Q9UNQ8

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	November 1, 1998
Last modified:	November 25, 2008
This is version 78 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)