Basic Information

Symbol
NDUFS4
RNA class
mRNA
Alias
NADH:Ubiquinone Oxidoreductase Subunit S4 CI-18 AQDQ NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4, 18kDa (NADH-Coenzyme Q Reductase) NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 4, Mitochondrial NADH-Ubiquinone Oxidoreductase 18 KDa Subunit Complex I 18kDa Subunit Complex I-AQDQ CI-18 KDa CI-AQDQ NADH Dehydrogenase (Ubiquinone) Fe-S Protein 4 (18kD) (NADH-Coenzyme Q Reductase) Mitochondrial Respiratory Chain Complex I (18-KD Subunit) Complex I-18 KDa MC1DN1
Location (GRCh38)
5:53560633-53683338
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Forensic psychiatry evaluation
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_002495.4
Sequence length
669.0 nt
GC content
0.4290

Secondary Structure

Generated by RNAfold
Minimum free energy (MFE) structure:
Secondary structure that contributes a minimum of free energy.
Ensemble properties:
Thermodynamic properties of the Boltzmann ensemble.
Minimum free energy
-181.00 kcal/mol
Thermodynamic ensemble
Free energy: -193.67 kcal/mol
Frequency: 0.0000
Diversity: 187.90
MFE Structure Visualization
Structure Prediction
MFE Structure Prediction
....(((((((.((((((.((......)).)))).)).)))))))(((((...((((..(((.(((.((((((((.(((((((.......)))))))))))))))..))).)))((((((.((((.(((..((.((((....)))).))..)).).))))..((((.((((...(((((......)))))(((.....(((((..((.(..........)))..))))).....)))..............((.(((((.......))))))).(((......))).)))).))))................((((....((((((((.(((((((((.(..((((....((((((..(((((.(((.((((.....)))))))..))))).((((((((((.((.................(((((......))))).........)).)))))))))).........)))))).((((....))))....)))).))))).)))))))))))))(((((...........)))))...)))).......))))))....(((((((...((((((((((........))))))....))))....))))))).((((((.....)))))).........(((.........)))))))...))))).
Thermodynamic Ensemble Prediction
.,{{((((((({((((,({({....{,||,||},.}}.,,)))))||,||.}}||||}}|||}|{{.((((((((((((((((.......))))))))))))))}.,)))||}|{({{{.,{{{{,,,{,{|},}{{{,...(((((((({...,,,.(((((((,.,....{{(((((......))))).}}.....,{(({..{,.{..,,,...{{||,..}))))..|||,,........,,.....{{,{((((.......))))))),(((......)))})))))),{{...,,,{...,,,,..((((...,{({(((((.{((({,{((,,{{({({,...||||||,.(((((.(((.((((.....)))))))..))))}.((((((((((.(({{{.........},},.(((((......))))).........)).))))))))))...,,....,}}}}}.||||,},,}}))},..)))}..)))).}|||||}||||||({{((,,.,.......}}})}},.))))......,))))}},))}(((((((...((((((((((........))))))....))))....))))))).((((((.....))))))...}))))))))........})))))))...,,.,,.

Transcripts

ID Sequence Length GC content
NM_001318051.2 NCBI
AUCCUGGCGUUUGCCUGCAGCAAGAUGGCGGCGGUGUCAAUGUCAGUGG… 595 nt 0.4336
NM_002495.4 NCBI
AUCCUGGCGUUUGCCUGCAGCAAGAUGGCGGCGGUGUCAAUGUCAGUGG… 669 nt 0.4290
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]

Forensic Context

A study in human brain samples using RNA-seq data identified the NDUFS4 as a dysregulated gene involved in the cAMP signaling pathway, which was part of a 99-gene panel used to train a Random Forest classification model for Major Depressive Disorder and its suicidal subtype, achieving a test accuracy of 61.11% [Verma et al. DOI:10.007/s11571-021-09724-8].