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

Gene ID: 4712, updated on 3-May-2020

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
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

Genomic context

See NDUFB6 in Genome Data Viewer
Location:
9p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (32553001..32573184, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (32553524..32573182, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene DExD/H-box helicase 58 Neighboring gene TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase Neighboring gene small integral membrane protein 27 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC13675

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial inner membrane TAS
Traceable Author Statement
more info
 
mitochondrial membrane IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial respiratory chain complex I IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

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)

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_001199987.1NP_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)
    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
    O95139
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    32553001..32573184 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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