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O75489 (NDUS3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 138. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

EC=1.6.5.3
EC=1.6.99.3
Alternative name(s):
Complex I-30kD
Short name=CI-30kD
NADH-ubiquinone oxidoreductase 30 kDa subunit
Gene names
Name:NDUFS3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length264 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence 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. HAMAP-Rule MF_01357

Catalytic activity

NADH + ubiquinone + 5 H+(In) = NAD+ + ubiquinol + 4 H+(Out). HAMAP-Rule MF_01357

NADH + acceptor = NAD+ + reduced acceptor. HAMAP-Rule MF_01357

Subunit structure

Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3. Ref.9 Ref.10

Subcellular location

Mitochondrion inner membrane HAMAP-Rule MF_01357.

Sequence similarities

Belongs to the complex I 30 kDa subunit family.

Ontologies

Keywords
   Biological processElectron transport
Respiratory chain
Transport
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityPolymorphism
   DomainTransit peptide
   LigandNAD
Ubiquinone
   Molecular functionOxidoreductase
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcellular metabolic process

Traceable author statement. Source: Reactome

mitochondrial electron transport, NADH to ubiquinone

Non-traceable author statement Ref.1PubMed 9878551. Source: UniProtKB

negative regulation of cell growth

Inferred from mutant phenotype PubMed 16826196. Source: UniProtKB

negative regulation of intrinsic apoptotic signaling pathway

Inferred from mutant phenotype PubMed 16826196. Source: UniProtKB

reactive oxygen species metabolic process

Inferred from mutant phenotype PubMed 16826196. Source: UniProtKB

respiratory electron transport chain

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

substantia nigra development

Inferred from expression pattern PubMed 22926577. Source: UniProt

   Cellular_componentmitochondrial inner membrane

Traceable author statement. Source: Reactome

mitochondrial membrane

Inferred from direct assay PubMed 17209039. Source: UniProtKB

mitochondrial respiratory chain complex I

Inferred from direct assay Ref.9PubMed 17209039. Source: UniProtKB

mitochondrion

Non-traceable author statement Ref.1. Source: UniProtKB

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionNADH dehydrogenase (ubiquinone) activity

Non-traceable author statement Ref.1PubMed 9878551. Source: UniProtKB

NADH dehydrogenase activity

Inferred from mutant phenotype PubMed 11112787PubMed 16826196. Source: UniProtKB

electron carrier activity

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

NDUFS2O753065EBI-1224896,EBI-1224806

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3636Mitochondrion Ref.7
Chain37 – 264228NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial HAMAP-Rule MF_01357
PRO_0000019998

Natural variations

Natural variant2491P → Q.
Corresponds to variant rs9600 [ dbSNP | Ensembl ].
VAR_012036

Experimental info

Sequence conflict1 – 77MAAAAVA → MAAGRY Ref.3

Sequences

Sequence LengthMass (Da)Tools
O75489 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: C058D62779BEF17B

FASTA26430,242
        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 

« Hide

References

« Hide '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] [Europe PMC] [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] [Europe PMC] [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. 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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Pituitary.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Cerebellum.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
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].
Tissue: Skin.
[7]"Global profiling of protease cleavage sites by chemoselective labeling of protein N-termini."
Xu G., Shin S.B., Jaffrey S.R.
Proc. Natl. Acad. Sci. U.S.A. 106:19310-19315(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PROTEIN SEQUENCE [LARGE SCALE ANALYSIS] OF 37-51.
Tissue: Leukemic T-cell.
[8]Lubec G., Vishwanath V.
Submitted (MAR-2007) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 126-136 AND 187-199, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Brain and Cajal-Retzius cell.
[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]"Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease."
Saada A., Vogel R.O., Hoefs S.J., van den Brand M.A., Wessels H.J., Willems P.H., Venselaar H., Shaag A., Barghuti F., Reish O., Shohat M., Huynen M.A., Smeitink J.A.M., van den Heuvel L.P., Nijtmans L.G.
Am. J. Hum. Genet. 84:718-727(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NDUFAF3.
[11]"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
AF067139 mRNA. Translation: AAC27451.1.
AF200954 Genomic DNA. Translation: AAG17541.1.
AF100743 mRNA. Translation: AAD40386.1.
AK313802 mRNA. Translation: BAG36538.1.
CH471064 Genomic DNA. Translation: EAW67895.1.
BC000617 mRNA. Translation: AAH00617.1.
PIRJE0195.
RefSeqNP_004542.1. NM_004551.2.
UniGeneHs.502528.

3D structure databases

ProteinModelPortalO75489.
SMRO75489. Positions 48-241.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110801. 30 interactions.
IntActO75489. 22 interactions.
MINTMINT-3001344.
STRING9606.ENSP00000263774.

Chemistry

ChEMBLCHEMBL2363065.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteO75489.

2D gel databases

REPRODUCTION-2DPAGEIPI00025796.
O75489.

Proteomic databases

PaxDbO75489.
PeptideAtlasO75489.
PRIDEO75489.

Protocols and materials databases

DNASU4722.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263774; ENSP00000263774; ENSG00000213619.
GeneID4722.
KEGGhsa:4722.
UCSCuc001nft.3. human.

Organism-specific databases

CTD4722.
GeneCardsGC11P047587.
HGNCHGNC:7710. NDUFS3.
HPAHPA004484.
MIM603846. gene.
neXtProtNX_O75489.
Orphanet2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBPA31520.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0852.
HOGENOMHOG000009797.
HOVERGENHBG000450.
InParanoidO75489.
KOK03936.
OMAQQVQVTC.
PhylomeDBO75489.
TreeFamTF314794.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.

Gene expression databases

ArrayExpressO75489.
BgeeO75489.
CleanExHS_NDUFS3.
GenevestigatorO75489.

Family and domain databases

HAMAPMF_01357. NDH1_NuoC.
InterProIPR010218. NADH_DH_suC.
IPR001268. NADH_UbQ_OxRdtase_30kDa_su.
IPR020396. NADH_UbQ_OxRdtase_CS.
[Graphical view]
PfamPF00329. Complex1_30kDa. 1 hit.
[Graphical view]
ProDomPD001581. NADH_UbQ_OxRdtase_30kDa_su. 1 hit.
[Graphical view] [Entries sharing at least one domain]
TIGRFAMsTIGR01961. NuoC_fam. 1 hit.
PROSITEPS00542. COMPLEX1_30K. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSNDUFS3. human.
GeneWikiNDUFS3.
GenomeRNAi4722.
NextBio18210.
PROO75489.
SOURCESearch...

Entry information

Entry nameNDUS3_HUMAN
AccessionPrimary (citable) accession number: O75489
Secondary accession number(s): B2R9J1, Q9UNQ8
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1998
Last modified: April 16, 2014
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

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