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    NDUFB6 NADH:ubiquinone oxidoreductase subunit B6 [ Homo sapiens (human) ]

    Gene ID: 4712, updated on 11-Apr-2024

    Summary

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    Official Symbol
    NDUFB6provided by HGNC
    Official Full Name
    NADH:ubiquinone oxidoreductase subunit B6provided by HGNC
    Primary source
    HGNC:HGNC:7701
    See related
    Ensembl:ENSG00000165264 MIM:603322; AllianceGenome:HGNC:7701
    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
    CI; B17
    Summary
    The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jan 2011]
    Expression
    Ubiquitous expression in heart (RPKM 40.7), kidney (RPKM 36.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    9p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32553001..32573159, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32569166..32589354, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32552999..32573157, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902138 Neighboring gene RNA sensor RIG-I Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:32508078-32508796 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:32508797-32509513 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28262 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19826 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19827 Neighboring gene H3K27ac hESC enhancers GRCh37_chr9:32551644-32552358 and GRCh37_chr9:32552359-32553072 Neighboring gene TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Neighboring gene small integral membrane protein 27 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28266 Neighboring gene DNA fragmentation factor subunit beta pseudogene 1 Neighboring gene uncharacterized LOC105376015 Neighboring gene TATA-box binding protein associated factor 1 like

    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
    • 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. NDUFB6 Polymorphism Is Associated With Physical Activity-Mediated Metabolic Changes in Type 2 Diabetes. Pesta D, et al. Front Endocrinol (Lausanne), 2021. PMID 34659107, Free PMC Article
    2. Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I. Kmita K, et al. Proc Natl Acad Sci U S A, 2015 May 5. PMID 25902503, Free PMC Article
    3. Downregulation of NDUFB6 due to 9p24.1-p13.3 loss is implicated in metastatic clear cell renal cell carcinoma. Narimatsu T, et al. Cancer Med, 2015 Jan. PMID 25315157, Free PMC Article
    4. The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines. Loublier S, et al. Biochem Biophys Res Commun, 2011 Oct 22. PMID 21964293
    5. Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle. Ling C, et al. J Clin Invest, 2007 Nov. PMID 17948130, Free PMC Article

    See all (54) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NDUFB6 Polymorphism Is Associated With Physical Activity-Mediated Metabolic Changes in Type 2 Diabetes.
      Title: NDUFB6 Polymorphism Is Associated With Physical Activity-Mediated Metabolic Changes in Type 2 Diabetes.
    2. we propose that NDUFB6 is a possible tumor suppressor of metastatic ccRCCs.
      Title: Downregulation of NDUFB6 due to 9p24.1-p13.3 loss is implicated in metastatic clear cell renal cell carcinoma.
    3. NDUFS6 has a Zn-binding site and is essential for biogenesis of mitochondrial complex I
      Title: Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I.
    4. NDUFB6 subunit is required for complex I activity.
      Title: The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    6. Polymorphism in the NDUFB6 gene from respiratory chain complex I related to ATP synthesis and insulin sensitivity response to exercise training found in relatives of humans with type 2 diabetes.
      Title: Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes.
    7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes.
    8. Results demonstrate that genetic, epigenetic, and nongenetic factors associate with NDUFB6 expression in human muscle and suggest that genetic and epigenetic factors may interact to increase age-dependent susceptibility to insulin resistance.
      Title: Genetic and epigenetic factors are associated with expression of respiratory chain component NDUFB6 in human skeletal muscle.
    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

    EBI GWAS Catalog

    Description
    Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
    EBI GWAS Catalog

    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

    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

    Clone Names

    • MGC13675

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial ATP synthesis coupled electron transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial ATP synthesis coupled electron transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in 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 mitochondrial membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of mitochondrial respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of mitochondrial respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6
    Names
    CI-B17
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa
    NADH-ubiquinone oxidoreductase B17 subunit
    NADH-ubiquinone oxidoreductase beta subunit, 6
    complex I, mitochondrial respiratory chain, B17 subunit
    complex I-B17
    NP_001186916.1
    NP_002484.1
    NP_877416.1

    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_011511.1 RefSeqGene

      Range
      5026..25184
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001199987.2 → NP_001186916.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 3

      See identical proteins and their annotated locations for NP_001186916.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL353671, AW160372, BG220924, BI669356, CB140469
      Consensus CDS
      CCDS75826.1
      UniProtKB/TrEMBL
      A0A087WZX2
      Related
      ENSP00000482941.1, ENST00000366466.5
      Conserved Domains (1) summary
      pfam09782
      Location:1 → 97
      NDUF_B6; NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit

    2. NM_002493.5 → NP_002484.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 1

      See identical proteins and their annotated locations for NP_002484.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AL353671, BG220924, BI669356, BP208846
      Consensus CDS
      CCDS6528.1
      UniProtKB/Swiss-Prot
      A8K0Y7, O95139, Q5VYT2, Q6IB84
      Related
      ENSP00000369176.3, ENST00000379847.8
      Conserved Domains (1) summary
      pfam09782
      Location:1 → 128
      NDUF_B6; NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit

    3. NM_182739.3 → NP_877416.1  NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6 isoform 2

      See identical proteins and their annotated locations for NP_877416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL353671, BG220924, BI669356, CB140469
      Consensus CDS
      CCDS6529.1
      UniProtKB/Swiss-Prot
      O95139
      Related
      ENSP00000297983.3, ENST00000350021.2
      Conserved Domains (1) summary
      pfam09782
      Location:1 → 113
      NDUF_B6; NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      32553001..32573159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      32569166..32589354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95139.3 GenPept UniProtKB/Swiss-Prot:O95139

    Gene LinkOut

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

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