NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• circulatory system development Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
• fatty acid metabolic process Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
• kidney development Source: MGIInferred from mutant phenotypeⁱ
  • "Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease."
    Forbes J.M., Ke B.X., Nguyen T.V., Henstridge D.C., Penfold S.A., Laskowski A., Sourris K.C., Groschner L.N., Cooper M.E., Thorburn D.R., Coughlan M.T.
    Antioxid Redox Signal 19:331-343(2013) [PubMed] [Europe PMC] [Abstract]
• mitochondrial electron transport, NADH to ubiquinone Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• mitochondrial respiratory chain complex I assembly Source: MGIInferred from mutant phenotypeⁱ
  • "Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease."
    Forbes J.M., Ke B.X., Nguyen T.V., Henstridge D.C., Penfold S.A., Laskowski A., Sourris K.C., Groschner L.N., Cooper M.E., Thorburn D.R., Coughlan M.T.
    Antioxid Redox Signal 19:331-343(2013) [PubMed] [Europe PMC] [Abstract]
• mitochondrion morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
• multicellular organism aging Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
• multicellular organism growth Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
• muscle contraction Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
• reproductive system development Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.
• respiratory electron transport chain Source: MGIInferred from mutant phenotypeⁱ
  • Ref.4

    "Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy."
    Ke B.X., Pepe S., Grubb D.R., Komen J.C., Laskowski A., Rodda F.A., Hardman B.M., Pitt J.J., Ryan M.T., Lazarou M., Koleff J., Cheung M.M., Smolich J.J., Thorburn D.R.
    Proc. Natl. Acad. Sci. U.S.A. 109:6165-6170(2012) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DISRUPTION PHENOTYPE.

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Amino acid modifications

Keywords - PTMⁱ

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)ⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingⁱ: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

        10         20         30         40         50
MAAVLTFRRL LTLPRAARGF GVQVSPSGEK ITHTGQVYDE KDYRRVRFVD 
        60         70         80         90        100
RQKEVNENFA IDLIAQQPVN EVEHRIIACD GGGGALGHPK VYINLDKETK 
       110 
TGTCGYCGLQ FKQHHH                                      

Experimental Info

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. PDB cross-references
   Index of Protein Data Bank (PDB) cross-references
3. SIMILARITY comments
   Index of protein domains and families