Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4724
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase subunit S4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFS4
Synonyms (NCBI Gene) Gene synonyms aliases	AQDQ, CI-18, CI-18 kDa, CI-AQDQ, MC1DN1
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	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 ubiqui

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893898	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs104893899	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs121908985	G>-	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs374491359	G>A,C,T	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant
rs376281345	G>A	Pathogenic	Splice acceptor variant
rs587776949	A>-,AA	Pathogenic	Non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant, frameshift variant, coding sequence variant
rs1445075330	->AAGTC	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, 3 prime UTR variant
rs1554059248	A>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1554060168	TAACCTTC>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, intron variant
rs1554062427	CC>-	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic downstream transcript variant, 3 prime UTR variant

Show/Hide all(1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023936	hsa-miR-1-3p	Proteomics	18668040

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001932	Process	Regulation of protein phosphorylation	IMP	11165261
GO:0005515	Function	Protein binding	IPI	31206022
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	31206022
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9463323, 9878551
GO:0007420	Process	Brain development	IMP	14765537
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	15038602, 16870178
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	16478720
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0022900	Process	Electron transport chain	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	11112787, 15038602
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	11112787, 16478720
GO:0051591	Process	Response to cAMP	IMP	11165261, 11181577
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IMP	16870178
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602694	7711	ENSG00000164258

Protein

UniProt ID

O43181

Protein name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial (Complex I-18 kDa) (CI-18 kDa) (Complex I-AQDQ) (CI-AQDQ) (NADH-ubiquinone oxidoreductase 18 kDa subunit)

Protein function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat

PDB

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04800	ETC_C1_NDUFA4	76 → 170	ETC complex I subunit conserved region	Family

Sequence

MAAVSMSVVLRQTLWRRRAVAVAALSVSRVPTRSLRTSTWRLAQDQTQDTQLITVDEKLD
ITTLTGVPEEHIKTRKVRIFVPARNNMQSGVNNTKKWKMEFDTRERWENPLMGWASTADP
LSNMVLTFSTKEDAVSFAEKNGWSYDIEERKVPKPKSKSYGANFSWNKRTRVSTK

Sequence length

175

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Thermogenesis Retrograde endocannabinoid signaling Non-alcoholic fatty liver disease Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Chemical carcinogenesis - reactive oxygen species Diabetic cardiomyopathy		Respiratory electron transport Complex I biogenesis

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
leigh syndrome	Leigh syndrome	rs747359752, rs104893898, rs587776949, rs1554059248, rs1554062427, rs1445075330, rs376281345, rs121908985	N/A
Mitochondrial Complex Deficiency	mitochondrial complex i deficiency, Mitochondrial complex I deficiency, nuclear type 1	rs104893898, rs747359752, rs104893899, rs587776949, rs1445075330, rs376281345, rs121908985	N/A
Fatal Mitochondrial Disease	Mitochondrial disease	rs376281345	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	37161202
Leigh Disease	Associate	33771987
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Associate	15975579
Lupus Erythematosus Systemic	Associate	23637325
Mitochondrial complex I deficiency	Associate	39547516, 9463323
Mitochondrial Diseases	Associate	39547516
Neurologic Manifestations	Associate	11165261
Psychological Distress	Associate	34698592

NDUFS4 (NADH:ubiquinone oxidoreductase subunit S4)