Format

Send to:

Choose Destination

NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 [ Homo sapiens (human) ]

Gene ID: 4728, updated on 4-Oct-2020

Summary

Official Symbol
NDUFS8provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S8provided by HGNC
Primary source
HGNC:HGNC:7715
See related
Ensembl:ENSG00000110717 MIM:602141
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
TYKY; CI-23k; CI23KD; MC1DN2
Summary
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated with Leigh syndrome. [provided by RefSeq, Mar 2010]
Expression
Ubiquitous expression in heart (RPKM 31.6), adrenal (RPKM 30.6) and 25 other tissues See more
Orthologs

Genomic context

See NDUFS8 in Genome Data Viewer
Location:
11q13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (68030681..68036644)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (67798084..67804114)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene unc-93 homolog B1, TLR signaling regulator Neighboring gene aldehyde dehydrogenase 3 family member B1 Neighboring gene Sharpr-MPRA regulatory region 5992 Neighboring gene microRNA 7113 Neighboring gene microRNA 4691 Neighboring gene T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 Neighboring gene microRNA 6753 Neighboring gene choline kinase alpha

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?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr HIV-1 Vpr is identified to have a physical interaction with NADH dehydrogenase (ubiquinone) Fe-S protein 8 (NDUFS8) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to NADH dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to NADH dehydrogenase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
aerobic respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone NAS
Non-traceable Author Statement
more info
PubMed 
mitochondrial electron transport, NADH to ubiquinone TAS
Traceable Author Statement
more info
 
mitochondrial respiratory chain complex I assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrial respiratory chain complex I assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
mitochondrial matrix TAS
Traceable Author Statement
more info
 
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
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial
Names
NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NADH-ubiquinone oxidoreductase 23 kDa subunit
complex I 23kDa subunit
complex I-23kD
NP_002487.1

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_017040.1 RefSeqGene

    Range
    5065..11028
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002496.4NP_002487.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor

    See identical proteins and their annotated locations for NP_002487.1

    Status: REVIEWED

    Source sequence(s)
    AP002807, U65579
    Consensus CDS
    CCDS8176.1
    UniProtKB/Swiss-Prot
    O00217
    Related
    ENSP00000315774.5, ENST00000313468.10
    Conserved Domains (1) summary
    PRK05888
    Location:54210
    PRK05888; NADH dehydrogenase subunit I; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    68030681..68036644
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center