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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
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Genomic context

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See NDUFB6 in Genome Data Viewer
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

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