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    NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 [ Homo sapiens (human) ]

    Gene ID: 4726, updated on 12-Nov-2024

    Summary

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    Official Symbol
    NDUFS6provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit S6provided by HGNC
    Primary source
    HGNC:HGNC:7713
    See related
    Ensembl:ENSG00000145494 MIM:603848; AllianceGenome:HGNC:7713
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MC1DN9; CI-13kA; CI13KDA; CI-13kD-A
    Summary
    This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in colon (RPKM 56.7), kidney (RPKM 56.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See NDUFS6 in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1801407..1816048)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1716295..1731268)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1801521..1816162)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374614 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:1708852-1709007 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1708971-1709534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1709535-1710099 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1710100-1710663 Neighboring gene microRNA 4277 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1745447-1745946 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1751136-1751775 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1768734-1769442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1769443-1770149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1771839-1772338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22308 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22309 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22310 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22311 Neighboring gene uncharacterized LOC101929003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:1801330-1802317 Neighboring gene mitochondrial ribosomal protein L36 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1815894-1816405 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1817127-1817628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1817629-1818128 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1827503-1828018 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1828019-1828534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1831287-1831980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1831981-1832674 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1833787-1834780 Neighboring gene VISTA enhancer hs2567 Neighboring gene eukaryotic translation initiation factor 3 subunit A Neighboring gene long intergenic non-protein coding RNA 2116

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders. Armirola-Ricaurte C, et al. Genet Med, 2024 Jun. PMID 38459834, Free PMC Article
    2. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. Kirby DM, et al. J Clin Invest, 2004 Sep. PMID 15372108, Free PMC Article
    3. Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6. Zhang Y, et al. Cell Death Dis, 2020 Dec 15. PMID 33323934, Free PMC Article
    4. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. Johnstone T, et al. Mol Genet Metab, 2020 Sep-Oct. PMID 33097395, Free PMC Article
    5. CD147 interacts with NDUFS6 in regulating mitochondrial complex I activity and the mitochondrial apoptotic pathway in human malignant melanoma cells. Luo Z, et al. Curr Mol Med, 2014. PMID 25470292

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
      Title: Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.
    2. PRMT1 methylation of WTAP promotes multiple myeloma tumorigenesis by activating oxidative phosphorylation via m6A modification of NDUFS6.
      Title: PRMT1 methylation of WTAP promotes multiple myeloma tumorigenesis by activating oxidative phosphorylation via m6A modification of NDUFS6.
    3. Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
      Title: Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
    4. Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
      Title: Adult mesenchymal stem cell ageing interplays with depressed mitochondrial Ndufs6.
    5. CD147 appears to regulate complex I activity and apoptosis in malignant melanoma cells by interacting with mitochondrial NDUFS6.
      Title: CD147 interacts with NDUFS6 in regulating mitochondrial complex I activity and the mitochondrial apoptotic pathway in human malignant melanoma cells.
    6. This protein has been found differentially expressed in the temporal lobe from patients with schizophrenia.
      Title: Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    8. NDUFS6 is required for the assembly and stabilization of a portion of complex I that contains a number of subunits.
      Title: Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.
    9. NDUFS6, a complex I subunit gene not previously associated with complex I deficiency, was grossly underexpressed in t patient cell lines.
      Title: NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Mitochondrial complex 1 deficiency, nuclear type 9
    MedGen: C4748767 OMIM: 618232 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 6 (NADH-coenzyme Q reductase; NDUFS6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables electron transfer activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
    Names
    NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
    NADH-ubiquinone oxidoreductase 13 kDa-A subunit
    NADH:ubiquinone oxidoreductase NDUFS6 subunit
    complex I 13kDa subunit A
    complex I, mitochondrial respiratory chain, 13-kD subunit
    NP_004544.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_013354.1 RefSeqGene

      Range
      5026..19667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004553.6 → NP_004544.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor

      See identical proteins and their annotated locations for NP_004544.1

      Status: REVIEWED

      Source sequence(s)
      BC038664
      Consensus CDS
      CCDS3866.1
      UniProtKB/Swiss-Prot
      O75380
      UniProtKB/TrEMBL
      Q6IBC4
      Related
      ENSP00000274137.6, ENST00000274137.10
      Conserved Domains (1) summary
      pfam10276
      Location:82 → 119
      zf-CHCC; Zinc-finger domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      1801407..1816048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      1716295..1731268
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75380.1 GenPept UniProtKB/Swiss-Prot:O75380

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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