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NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 [ Homo sapiens (human) ]

Gene ID: 4724, updated on 11-Sep-2019

Summary

Official Symbol
NDUFS4provided by HGNC
Official Full Name
NADH:ubiquinone oxidoreductase subunit S4provided by HGNC
Primary source
HGNC:HGNC:7711
See related
Ensembl:ENSG00000164258 MIM:602694
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
AQDQ; CI-18; MC1DN1; CI-AQDQ; CI-18 kDa
Summary
This gene encodes an nuclear-encoded accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I, or NADH:ubiquinone oxidoreductase). Complex I removes electrons from NADH and passes them to the electron acceptor ubiquinone. Mutations in this gene can cause mitochondrial complex I deficiencies such as Leigh syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Expression
Ubiquitous expression in heart (RPKM 25.7), fat (RPKM 23.7) and 25 other tissues See more
Orthologs

Genomic context

See NDUFS4 in Genome Data Viewer
Location:
5q11.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (53560610..53683338)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (52856464..52979171)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein S19 pseudogene 4 Neighboring gene follistatin Neighboring gene long intergenic non-protein coding RNA 2105 Neighboring gene argininosuccinate synthetase 1 pseudogene 9

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

Associated conditions

Description Tests
Mitochondrial complex I deficiency, nuclear type 1
MedGen: CN257533 OMIM: 252010 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog

Pathways from BioSystems

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to NADH dehydrogenase (ubiquinone) activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cAMP-mediated signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular respiration IMP
Inferred from Mutant Phenotype
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrial respiratory chain complex I assembly TAS
Traceable Author Statement
more info
 
positive regulation of fibroblast proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
reactive oxygen species metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to cAMP IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
Names
NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NADH-ubiquinone oxidoreductase 18 kDa subunit
complex I 18kDa subunit
complex I-AQDQ
mitochondrial respiratory chain complex I (18-KD subunit)

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_008200.1 RefSeqGene

    Range
    5005..127704
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318051.2NP_001304980.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate exon, which results in a frameshift compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    BU145342, BU954271, CD692133
    Related
    ENSP00000424570.1, ENST00000506765.1
    Conserved Domains (1) summary
    pfam04800
    Location:76117
    ETC_C1_NDUFA4; ETC complex I subunit conserved region
  2. NM_002495.4NP_002486.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform 1 precursor

    See identical proteins and their annotated locations for NP_002486.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AI001139, BU954271, CD692133
    Consensus CDS
    CCDS3960.1
    UniProtKB/Swiss-Prot
    O43181
    UniProtKB/TrEMBL
    A0A0S2Z433
    Related
    ENSP00000296684.5, ENST00000296684.10
    Conserved Domains (1) summary
    pfam04800
    Location:76170
    ETC_C1_NDUFA4; ETC complex I subunit conserved region

RNA

  1. NR_134473.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI001139, BU954271, CD692133, KU178227
    Related
    ENST00000506974.5
  2. NR_134474.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI001139, BU954271, DA609203
  3. NR_134475.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains an alternate internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AI001139, BU954271, CD692133
    Related
    ENST00000507026.5

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_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    53560610..53683338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009491.1XP_016864980.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial isoform X1

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