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

    Gene ID: 4712, updated on 9-Dec-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NDUFB6 in Genome Data Viewer
    Location:
    9p21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (32553001..32573159, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (32569166..32589354, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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_001199987.2NP_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:197
      NDUF_B6; NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit
    2. NM_002493.5NP_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:1128
      NDUF_B6; NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit
    3. NM_182739.3NP_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:1113
      NDUF_B6; NADH:ubiquinone oxidoreductase, NDUFB6/B17 subunit

    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_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)