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NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 [ Homo sapiens (human) ]

Gene ID: 374291, updated on 8-Jul-2019

Summary

Official Symbol
NDUFS7provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase core subunit S7provided by HGNC
Primary source
HGNC:HGNC:7714
See related
Ensembl:ENSG00000115286 MIM:601825
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
PSST; CI-20; MY017; MC1DN3; CI-20KD
Summary
This gene encodes a protein that is a subunit of one of the complexes that forms the mitochondrial respiratory chain. This protein is one of over 40 subunits found in complex I, the nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase. This complex functions in the transfer of electrons from NADH to the respiratory chain, and ubiquinone is believed to be the immediate electron acceptor for the enzyme. Mutations in this gene cause Leigh syndrome due to mitochondrial complex I deficiency, a severe neurological disorder that results in bilaterally symmetrical necrotic lesions in subcortical brain regions. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in kidney (RPKM 13.3), duodenum (RPKM 11.5) and 25 other tissues See more
Orthologs

Genomic context

See NDUFS7 in Genome Data Viewer
Location:
19p13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (1383904..1395584)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (1383526..1395588)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene tRNA-Phe (anticodon GAA) 1-6 Neighboring gene tRNA-Asn (anticodon GTT) 2-6 Neighboring gene guanidinoacetate N-methyltransferase Neighboring gene DAZ associated protein 1

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 FunctionsWhat's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of NADH dehydrogenase (ubiquinone) Fe-S protein 7 (NADH-coenzyme Q reductase; NDUFS7) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ45860, FLJ46880, MGC120002

Gene Ontology Provided by GOA

Function Evidence Code Pubs
4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
 
NADH dehydrogenase (ubiquinone) activity IBA
Inferred from Biological aspect of Ancestor
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
 
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor NAS
Non-traceable Author Statement
more info
PubMed 
protease binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
quinone binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
aerobic respiration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
electron transport coupled proton transport 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
 
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 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
synaptic membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial
Names
NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NADH-coenzyme Q reductase
NADH-ubiquinone oxidoreductase 20 kDa subunit
NADH:ubiquinone oxidoreductase PSST subunit
PSST subunit
complex I 20kDa subunit
complex I, mitochondrial respiratory chain, 20-KD subunit
complex I-20kD
NP_001350531.1
NP_077718.3
XP_016882257.2
XP_024307267.1

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_008283.1 RefSeqGene

    Range
    5001..16706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363602.2NP_001350531.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC005329, AK293917, BC001715, DC340464
    Consensus CDS
    CCDS86683.1
    Related
    ENSP00000443273.1, ENST00000539480.5
    Conserved Domains (1) summary
    PRK06411
    Location:63181
    PRK06411; NADH dehydrogenase subunit B; Validated
  2. NM_024407.5NP_077718.3  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_077718.3

    Status: REVIEWED

    Source sequence(s)
    BC001715, DC340464
    Consensus CDS
    CCDS12063.1
    UniProtKB/Swiss-Prot
    O75251
    UniProtKB/TrEMBL
    Q7LD69
    Related
    ENSP00000233627.9, ENST00000233627.14
    Conserved Domains (1) summary
    PRK06411
    Location:63213
    PRK06411; NADH dehydrogenase subunit B; Validated

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    1383904..1395584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017026768.2XP_016882257.2  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform X1

  2. XM_024451499.1XP_024307267.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform X3

    Conserved Domains (1) summary
    PRK06411
    Location:70220
    PRK06411; NADH dehydrogenase subunit B; Validated
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