Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

O43181

- NDUS4_HUMAN

UniProt

O43181 - NDUS4_HUMAN

Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial

Gene

NDUFS4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 133 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

    GO - Molecular functioni

    1. NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

    GO - Biological processi

    1. brain development Source: UniProtKB
    2. cAMP-mediated signaling Source: UniProtKB
    3. cellular metabolic process Source: Reactome
    4. cellular respiration Source: UniProtKB
    5. mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
    6. mitochondrial respiratory chain complex I assembly Source: UniProtKB
    7. positive regulation of fibroblast proliferation Source: UniProtKB
    8. reactive oxygen species metabolic process Source: UniProtKB
    9. regulation of protein phosphorylation Source: MGI
    10. respiratory electron transport chain Source: Reactome
    11. response to cAMP Source: UniProtKB
    12. small molecule metabolic process Source: Reactome

    Keywords - Biological processi

    Electron transport, Respiratory chain, Transport

    Enzyme and pathway databases

    ReactomeiREACT_22393. Respiratory electron transport.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
    Alternative name(s):
    Complex I-18 kDa
    Short name:
    CI-18 kDa
    Complex I-AQDQ
    Short name:
    CI-AQDQ
    NADH-ubiquinone oxidoreductase 18 kDa subunit
    Gene namesi
    Name:NDUFS4
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:7711. NDUFS4.

    Subcellular locationi

    GO - Cellular componenti

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

    Keywords - Cellular componenti

    Membrane, Mitochondrion, Mitochondrion inner membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Organism-specific databases

    MIMi252010. phenotype.
    Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBiPA31521.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 4242MitochondrionBy similarityAdd
    BLAST
    Chaini43 – 175133NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrialPRO_0000020038Add
    BLAST

    Proteomic databases

    MaxQBiO43181.
    PaxDbiO43181.
    PeptideAtlasiO43181.
    PRIDEiO43181.

    2D gel databases

    UCD-2DPAGEO43181.

    PTM databases

    PhosphoSiteiO43181.

    Expressioni

    Gene expression databases

    ArrayExpressiO43181.
    BgeeiO43181.
    CleanExiHS_NDUFS4.
    GenevestigatoriO43181.

    Organism-specific databases

    HPAiHPA003884.

    Interactioni

    Subunit structurei

    Mammalian 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

    BioGridi110803. 24 interactions.
    IntActiO43181. 2 interactions.
    STRINGi9606.ENSP00000296684.

    Structurei

    3D structure databases

    ProteinModelPortaliO43181.
    SMRiO43181. Positions 78-147.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the complex I NDUFS4 subunit family.Curated

    Keywords - Domaini

    Transit peptide

    Phylogenomic databases

    eggNOGiNOG79671.
    HOGENOMiHOG000140414.
    HOVERGENiHBG003007.
    InParanoidiO43181.
    KOiK03937.
    OMAiERNGWRW.
    PhylomeDBiO43181.
    TreeFamiTF105619.

    Family and domain databases

    InterProiIPR006885. NADH_UbQ_FeS_4_mit.
    [Graphical view]
    PANTHERiPTHR12219. PTHR12219. 1 hit.
    PfamiPF04800. ETC_C1_NDUFA4. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

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

    O43181-1 [UniParc]FASTAAdd to Basket

    « Hide

    MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT    50
    QLITVDEKLD ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME 100
    FDTRERWENP LMGWASTADP LSNMVLTFST KEDAVSFAEK NGWSYDIEER 150
    KVPKPKSKSY GANFSWNKRT RVSTK 175
    Length:175
    Mass (Da):20,108
    Last modified:June 1, 1998 - v1
    Checksum:iDE5B51DBDD76231E
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti39 – 391T → S in AAH05270. (PubMed:15489334)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti174 – 1741T → P.
    Corresponds to variant rs1044692 [ dbSNP | Ensembl ].
    VAR_012037

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF020351 mRNA. Translation: AAB87865.1.
    BC005270 mRNA. Translation: AAH05270.1.
    CCDSiCCDS3960.1.
    RefSeqiNP_002486.1. NM_002495.2.
    UniGeneiHs.528222.

    Genome annotation databases

    EnsembliENST00000296684; ENSP00000296684; ENSG00000164258.
    GeneIDi4724.
    KEGGihsa:4724.
    UCSCiuc003jpe.2. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF020351 mRNA. Translation: AAB87865.1 .
    BC005270 mRNA. Translation: AAH05270.1 .
    CCDSi CCDS3960.1.
    RefSeqi NP_002486.1. NM_002495.2.
    UniGenei Hs.528222.

    3D structure databases

    ProteinModelPortali O43181.
    SMRi O43181. Positions 78-147.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110803. 24 interactions.
    IntActi O43181. 2 interactions.
    STRINGi 9606.ENSP00000296684.

    Chemistry

    ChEMBLi CHEMBL2363065.
    DrugBanki DB00157. NADH.

    PTM databases

    PhosphoSitei O43181.

    2D gel databases

    UCD-2DPAGE O43181.

    Proteomic databases

    MaxQBi O43181.
    PaxDbi O43181.
    PeptideAtlasi O43181.
    PRIDEi O43181.

    Protocols and materials databases

    DNASUi 4724.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296684 ; ENSP00000296684 ; ENSG00000164258 .
    GeneIDi 4724.
    KEGGi hsa:4724.
    UCSCi uc003jpe.2. human.

    Organism-specific databases

    CTDi 4724.
    GeneCardsi GC05P052892.
    HGNCi HGNC:7711. NDUFS4.
    HPAi HPA003884.
    MIMi 252010. phenotype.
    602694. gene.
    neXtProti NX_O43181.
    Orphaneti 2609. Isolated NADH-CoQ reductase deficiency.
    255241. Leigh syndrome with leukodystrophy.
    PharmGKBi PA31521.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG79671.
    HOGENOMi HOG000140414.
    HOVERGENi HBG003007.
    InParanoidi O43181.
    KOi K03937.
    OMAi ERNGWRW.
    PhylomeDBi O43181.
    TreeFami TF105619.

    Enzyme and pathway databases

    Reactomei REACT_22393. Respiratory electron transport.

    Miscellaneous databases

    ChiTaRSi NDUFS4. human.
    GeneWikii NDUFS4.
    GenomeRNAii 4724.
    NextBioi 18218.
    PROi O43181.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O43181.
    Bgeei O43181.
    CleanExi HS_NDUFS4.
    Genevestigatori O43181.

    Family and domain databases

    InterProi IPR006885. NADH_UbQ_FeS_4_mit.
    [Graphical view ]
    PANTHERi PTHR12219. PTHR12219. 1 hit.
    Pfami PF04800. ETC_C1_NDUFA4. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit."
      van den Heuvel L., Ruitenbeek W., Smeets R., Gelman-Kohan Z., Elpeleg O., Loeffen J., Trijbels F., Mariman E., de Bruijn D., Smeitink J.
      Am. J. Hum. Genet. 62:262-268(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], DISEASE.
    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: Urinary bladder.
    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: IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.
    4. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiNDUS4_HUMAN
    AccessioniPrimary (citable) accession number: O43181
    Secondary accession number(s): Q9BS69
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1998
    Last sequence update: June 1, 1998
    Last modified: October 1, 2014
    This is version 133 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, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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