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O75251

- NDUS7_HUMAN

UniProt

O75251 - NDUS7_HUMAN

Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

Gene

NDUFS7

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 149 (01 Oct 2014)
      Sequence version 3 (21 Mar 2006)
      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.

    Cofactori

    Binds 1 4Fe-4S cluster.Curated

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi88 – 881Iron-sulfur (4Fe-4S)Sequence Analysis
    Metal bindingi89 – 891Iron-sulfur (4Fe-4S)Sequence Analysis
    Metal bindingi153 – 1531Iron-sulfur (4Fe-4S)Sequence Analysis
    Metal bindingi183 – 1831Iron-sulfur (4Fe-4S)Sequence Analysis

    GO - Molecular functioni

    1. 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
    4. oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor Source: UniProtKB
    5. protein binding Source: UniProtKB
    6. quinone binding Source: InterPro

    GO - Biological processi

    1. cellular metabolic process Source: Reactome
    2. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
    3. mitochondrial respiratory chain complex I assembly Source: UniProtKB
    4. respiratory electron transport chain Source: Reactome
    5. small molecule metabolic process Source: Reactome

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Biological processi

    Electron transport, Respiratory chain, Transport

    Keywords - Ligandi

    4Fe-4S, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial (EC:1.6.5.3, EC:1.6.99.3)
    Alternative name(s):
    Complex I-20kD
    Short name:
    CI-20kD
    NADH-ubiquinone oxidoreductase 20 kDa subunit
    PSST subunit
    Gene namesi
    Name:NDUFS7
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:7714. NDUFS7.

    Subcellular locationi

    GO - Cellular componenti

    1. mitochondrial inner membrane Source: Reactome
    2. mitochondrial respiratory chain complex I Source: UniProtKB
    3. neuronal cell body Source: Ensembl
    4. neuron projection Source: Ensembl
    5. synaptic membrane Source: Ensembl

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Involvement in diseasei

    Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti122 – 1221V → M in MT-C1D. 2 Publications
    VAR_008848

    Keywords - Diseasei

    Disease mutation, Leigh syndrome

    Organism-specific databases

    MIMi252010. phenotype.
    256000. phenotype.
    Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBiPA31524.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3838MitochondrionBy similarityAdd
    BLAST
    Chaini39 – 213175NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrialPRO_0000020027Add
    BLAST

    Proteomic databases

    MaxQBiO75251.
    PaxDbiO75251.
    PRIDEiO75251.

    PTM databases

    PhosphoSiteiO75251.

    Expressioni

    Gene expression databases

    ArrayExpressiO75251.
    BgeeiO75251.
    CleanExiHS_NDUFS7.
    GenevestigatoriO75251.

    Interactioni

    Subunit structurei

    Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme.1 Publication

    Protein-protein interaction databases

    BioGridi131889. 20 interactions.
    IntActiO75251. 5 interactions.
    MINTiMINT-3001113.
    STRINGi9606.ENSP00000233627.

    Structurei

    3D structure databases

    ProteinModelPortaliO75251.
    SMRiO75251. Positions 67-202.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the complex I 20 kDa subunit family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiCOG0377.
    HOGENOMiHOG000228249.
    HOVERGENiHBG001576.
    KOiK03940.
    OMAiQVRGVHS.
    OrthoDBiEOG7C8GJ9.
    PhylomeDBiO75251.
    TreeFamiTF312859.

    Family and domain databases

    Gene3Di3.40.50.700. 1 hit.
    HAMAPiMF_01356. NDH1_NuoB.
    InterProiIPR006137. NADH_UbQ_OxRdtase-like_20kDa.
    IPR006138. NADH_UQ_OxRdtase_20Kd_su.
    [Graphical view]
    PfamiPF01058. Oxidored_q6. 1 hit.
    [Graphical view]
    TIGRFAMsiTIGR01957. nuoB_fam. 1 hit.
    PROSITEiPS01150. COMPLEX1_20K. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    O75251-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAVLSAPGLR GFRILGLRSS VGPAVQARGV HQSVATDGPS STQPALPKAR    50
    AVAPKPSSRG EYVVAKLDDL VNWARRSSLW PMTFGLACCA VEMMHMAAPR 100
    YDMDRFGVVF RASPRQSDVM IVAGTLTNKM APALRKVYDQ MPEPRYVVSM 150
    GSCANGGGYY HYSYSVVRGC DRIVPVDIYI PGCPPTAEAL LYGILQLQRK 200
    IKRERRLQIW YRR 213
    Length:213
    Mass (Da):23,564
    Last modified:March 21, 2006 - v3
    Checksum:iB3547EA24643C1B0
    GO

    Sequence cautioni

    The sequence AAC27669.1 differs from that shown. Reason: Erroneous gene model prediction.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti23 – 231P → L.1 Publication
    Corresponds to variant rs1142530 [ dbSNP | Ensembl ].
    VAR_014482
    Natural varianti122 – 1221V → M in MT-C1D. 2 Publications
    VAR_008848

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC005329 Genomic DNA. Translation: AAC27669.1. Sequence problems.
    BC001715 mRNA. Translation: AAH01715.2.
    BC005954 mRNA. Translation: AAH05954.1.
    BC111517 mRNA. Translation: AAI11518.1.
    CCDSiCCDS12063.1.
    RefSeqiNP_077718.3. NM_024407.4.
    UniGeneiHs.211914.

    Genome annotation databases

    EnsembliENST00000233627; ENSP00000233627; ENSG00000115286.
    GeneIDi374291.
    KEGGihsa:374291.
    UCSCiuc002lse.4. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC005329 Genomic DNA. Translation: AAC27669.1 . Sequence problems.
    BC001715 mRNA. Translation: AAH01715.2 .
    BC005954 mRNA. Translation: AAH05954.1 .
    BC111517 mRNA. Translation: AAI11518.1 .
    CCDSi CCDS12063.1.
    RefSeqi NP_077718.3. NM_024407.4.
    UniGenei Hs.211914.

    3D structure databases

    ProteinModelPortali O75251.
    SMRi O75251. Positions 67-202.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 131889. 20 interactions.
    IntActi O75251. 5 interactions.
    MINTi MINT-3001113.
    STRINGi 9606.ENSP00000233627.

    Chemistry

    ChEMBLi CHEMBL2363065.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei O75251.

    Proteomic databases

    MaxQBi O75251.
    PaxDbi O75251.
    PRIDEi O75251.

    Protocols and materials databases

    DNASUi 374291.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000233627 ; ENSP00000233627 ; ENSG00000115286 .
    GeneIDi 374291.
    KEGGi hsa:374291.
    UCSCi uc002lse.4. human.

    Organism-specific databases

    CTDi 374291.
    GeneCardsi GC19P001384.
    H-InvDB HIX0027582.
    HGNCi HGNC:7714. NDUFS7.
    MIMi 252010. phenotype.
    256000. phenotype.
    601825. gene.
    neXtProti NX_O75251.
    Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBi PA31524.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0377.
    HOGENOMi HOG000228249.
    HOVERGENi HBG001576.
    KOi K03940.
    OMAi QVRGVHS.
    OrthoDBi EOG7C8GJ9.
    PhylomeDBi O75251.
    TreeFami TF312859.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    GeneWikii NDUFS7.
    GenomeRNAii 374291.
    NextBioi 100146.
    PROi O75251.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O75251.
    Bgeei O75251.
    CleanExi HS_NDUFS7.
    Genevestigatori O75251.

    Family and domain databases

    Gene3Di 3.40.50.700. 1 hit.
    HAMAPi MF_01356. NDH1_NuoB.
    InterProi IPR006137. NADH_UbQ_OxRdtase-like_20kDa.
    IPR006138. NADH_UQ_OxRdtase_20Kd_su.
    [Graphical view ]
    Pfami PF01058. Oxidored_q6. 1 hit.
    [Graphical view ]
    TIGRFAMsi TIGR01957. nuoB_fam. 1 hit.
    PROSITEi PS01150. COMPLEX1_20K. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13."
      Hyslop S.J., Duncan A.M.V., Pitkanen S., Robinson B.H.
      Genomics 37:375-380(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "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], VARIANT LEU-23.
      Tissue: Brain.
    4. "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.
    5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    6. Cited for: VARIANT LS MET-122.
    7. "Human mitochondrial complex I in health and disease."
      Smeitink J., van den Heuvel L.
      Am. J. Hum. Genet. 64:1505-1510(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MT-C1D MET-122.

    Entry informationi

    Entry nameiNDUS7_HUMAN
    AccessioniPrimary (citable) accession number: O75251
    Secondary accession number(s): Q2T9H7, Q9BV17
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: March 21, 2006
    Last modified: October 1, 2014
    This is version 149 of the entry and version 3 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, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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