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O75489

- NDUS3_HUMAN

UniProt

O75489 - NDUS3_HUMAN

Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial

Gene

NDUFS3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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.

    GO - Molecular functioni

    1. electron carrier activity Source: UniProtKB
    2. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
    3. NADH dehydrogenase activity Source: UniProtKB
    4. protein binding Source: UniProtKB

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
    3. negative regulation of cell growth Source: UniProtKB
    4. negative regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
    5. reactive oxygen species metabolic process Source: UniProtKB
    6. respiratory electron transport chain Source: Reactome
    7. small molecule metabolic process Source: Reactome
    8. substantia nigra development Source: UniProt

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Electron transport, Respiratory chain, Transport

    Keywords - Ligandi

    NAD, Ubiquinone

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended 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 namesi
    Name:NDUFS3
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:7710. NDUFS3.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Reactome
    2. mitochondrial membrane Source: UniProtKB
    3. mitochondrial respiratory chain complex I Source: UniProtKB
    4. mitochondrion Source: UniProtKB
    5. nucleus Source: HPA

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Organism-specific databases

    Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBiPA31520.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3636Mitochondrion1 PublicationAdd
    BLAST
    Chaini37 – 264228NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrialPRO_0000019998Add
    BLAST

    Proteomic databases

    MaxQBiO75489.
    PaxDbiO75489.
    PeptideAtlasiO75489.
    PRIDEiO75489.

    2D gel databases

    REPRODUCTION-2DPAGEIPI00025796.
    O75489.

    PTM databases

    PhosphoSiteiO75489.

    Expressioni

    Gene expression databases

    ArrayExpressiO75489.
    BgeeiO75489.
    CleanExiHS_NDUFS3.
    GenevestigatoriO75489.

    Organism-specific databases

    HPAiHPA004484.

    Interactioni

    Subunit structurei

    Mammalian complex I is composed of 45 different subunits. Interacts with NDUFAF3.2 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    NDUFS2O753065EBI-1224896,EBI-1224806

    Protein-protein interaction databases

    BioGridi110801. 30 interactions.
    IntActiO75489. 22 interactions.
    MINTiMINT-3001344.
    STRINGi9606.ENSP00000263774.

    Structurei

    3D structure databases

    ProteinModelPortaliO75489.
    SMRiO75489. Positions 48-204.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the complex I 30 kDa subunit family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0852.
    HOGENOMiHOG000009797.
    HOVERGENiHBG000450.
    InParanoidiO75489.
    KOiK03936.
    OMAiAECLPKY.
    PhylomeDBiO75489.
    TreeFamiTF314794.

    Family and domain databases

    HAMAPiMF_01357. NDH1_NuoC.
    InterProiIPR010218. NADH_DH_suC.
    IPR001268. NADH_UbQ_OxRdtase_30kDa_su.
    IPR020396. NADH_UbQ_OxRdtase_CS.
    [Graphical view]
    PfamiPF00329. Complex1_30kDa. 1 hit.
    [Graphical view]
    ProDomiPD001581. NADH_UbQ_OxRdtase_30kDa_su. 1 hit.
    [Graphical view] [Entries sharing at least one domain]
    TIGRFAMsiTIGR01961. NuoC_fam. 1 hit.
    PROSITEiPS00542. COMPLEX1_30K. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    O75489-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR    50
    NDVAHKQLSA FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL 100
    RDHTNAQFKS LVDLTAVDVP TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL 150
    TPIESAVSVF KAANWYEREI WDMFGVFFAN HPDLRRILTD YGFEGHPFRK 200
    DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE AFPVYRQPPE 250
    SLKLEAGDKK PDAK 264
    Length:264
    Mass (Da):30,242
    Last modified:November 1, 1998 - v1
    Checksum:iC058D62779BEF17B
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti1 – 77MAAAAVA → MAAGRY(PubMed:10931946)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti249 – 2491P → Q.
    Corresponds to variant rs9600 [ dbSNP | Ensembl ].
    VAR_012036

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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.
    CCDSiCCDS7941.1.
    PIRiJE0195.
    RefSeqiNP_004542.1. NM_004551.2.
    UniGeneiHs.502528.

    Genome annotation databases

    EnsembliENST00000263774; ENSP00000263774; ENSG00000213619.
    GeneIDi4722.
    KEGGihsa:4722.
    UCSCiuc001nft.3. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    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 .
    CCDSi CCDS7941.1.
    PIRi JE0195.
    RefSeqi NP_004542.1. NM_004551.2.
    UniGenei Hs.502528.

    3D structure databases

    ProteinModelPortali O75489.
    SMRi O75489. Positions 48-204.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110801. 30 interactions.
    IntActi O75489. 22 interactions.
    MINTi MINT-3001344.
    STRINGi 9606.ENSP00000263774.

    Chemistry

    ChEMBLi CHEMBL2363065.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei O75489.

    2D gel databases

    REPRODUCTION-2DPAGE IPI00025796.
    O75489.

    Proteomic databases

    MaxQBi O75489.
    PaxDbi O75489.
    PeptideAtlasi O75489.
    PRIDEi O75489.

    Protocols and materials databases

    DNASUi 4722.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000263774 ; ENSP00000263774 ; ENSG00000213619 .
    GeneIDi 4722.
    KEGGi hsa:4722.
    UCSCi uc001nft.3. human.

    Organism-specific databases

    CTDi 4722.
    GeneCardsi GC11P047587.
    HGNCi HGNC:7710. NDUFS3.
    HPAi HPA004484.
    MIMi 603846. gene.
    neXtProti NX_O75489.
    Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBi PA31520.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0852.
    HOGENOMi HOG000009797.
    HOVERGENi HBG000450.
    InParanoidi O75489.
    KOi K03936.
    OMAi AECLPKY.
    PhylomeDBi O75489.
    TreeFami TF314794.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    ChiTaRSi NDUFS3. human.
    GeneWikii NDUFS3.
    GenomeRNAii 4722.
    NextBioi 18210.
    PROi O75489.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75489.
    Bgeei O75489.
    CleanExi HS_NDUFS3.
    Genevestigatori O75489.

    Family and domain databases

    HAMAPi MF_01357. NDH1_NuoC.
    InterProi IPR010218. NADH_DH_suC.
    IPR001268. NADH_UbQ_OxRdtase_30kDa_su.
    IPR020396. NADH_UbQ_OxRdtase_CS.
    [Graphical view ]
    Pfami PF00329. Complex1_30kDa. 1 hit.
    [Graphical view ]
    ProDomi PD001581. NADH_UbQ_OxRdtase_30kDa_su. 1 hit.
    [Graphical view ] [Entries sharing at least one domain ]
    TIGRFAMsi TIGR01961. NuoC_fam. 1 hit.
    PROSITEi PS00542. COMPLEX1_30K. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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. 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.
      , 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. 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. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNDUS3_HUMAN
    AccessioniPrimary (citable) accession number: O75489
    Secondary accession number(s): B2R9J1, Q9UNQ8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 15, 1998
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 143 of the entry and version 1 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, Direct protein sequencing, 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