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NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 [ Homo sapiens (human) ]

Gene ID: 4726, updated on 5-Apr-2020

Summary

Official Symbol
NDUFS6provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit S6provided by HGNC
Primary source
HGNC:HGNC:7713
See related
Ensembl:ENSG00000145494 MIM:603848
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
MC1DN9; CI-13kA; CI13KDA; CI-13kD-A
Summary
This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The subunit encoded by this gene is one of seven subunits in the iron-sulfur protein fraction. Mutations in this gene cause mitochondrial complex I deficiency, a disease that causes a wide variety of clinical disorders, including neonatal disease and adult-onset neurodegenerative disorders.[provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in colon (RPKM 56.7), kidney (RPKM 56.2) and 25 other tissues See more
Orthologs

Genomic context

See NDUFS6 in Genome Data Viewer
Location:
5p15.33
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (1801407..1816048)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1801496..1816165)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374614 Neighboring gene microRNA 4277 Neighboring gene uncharacterized LOC101929003 Neighboring gene mitochondrial ribosomal protein L36 Neighboring gene VISTA enhancer hs2567 Neighboring gene long intergenic non-protein coding RNA 2116

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

Replication interactions

Interaction Pubs
Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 6 (NADH-coenzyme Q reductase; NDUFS6) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells 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
NADH dehydrogenase (ubiquinone) activity NAS
Non-traceable Author Statement
more info
PubMed 
electron transfer activity NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cardiovascular system development IEA
Inferred from Electronic Annotation
more info
 
fatty acid metabolic process IEA
Inferred from Electronic Annotation
more info
 
kidney development IEA
Inferred from Electronic Annotation
more info
 
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 TAS
Traceable Author Statement
more info
 
mitochondrion morphogenesis IEA
Inferred from Electronic Annotation
more info
 
multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
muscle contraction IEA
Inferred from Electronic Annotation
more info
 
reproductive system development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial inner membrane 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 NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
Names
NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NADH-ubiquinone oxidoreductase 13 kDa-A subunit
NADH:ubiquinone oxidoreductase NDUFS6 subunit
complex I 13kDa subunit A
complex I, mitochondrial respiratory chain, 13-kD subunit
NP_004544.1

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_013354.1 RefSeqGene

    Range
    5026..19667
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004553.6NP_004544.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial precursor

    See identical proteins and their annotated locations for NP_004544.1

    Status: REVIEWED

    Source sequence(s)
    BC038664
    Consensus CDS
    CCDS3866.1
    UniProtKB/Swiss-Prot
    O75380
    UniProtKB/TrEMBL
    Q6IBC4
    Related
    ENSP00000274137.5, ENST00000274137.9
    Conserved Domains (1) summary
    pfam10276
    Location:82119
    zf-CHCC; Zinc-finger domain

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    1801407..1816048
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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