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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4724
Gene name	NADH:ubiquinone oxidoreductase subunit S4
Gene symbol	NDUFS4
Synonyms (NCBI Gene)	AQDQCI-18CI-18 kDaCI-AQDQMC1DN1
Chromosome	5
Chromosome location	5q11.2
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 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

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

139

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Pathogenic	rs376281345	RCV005898611
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs1260453815	RCV005930107
Developmental regression	Pathogenic	rs1751865973	RCV001269385
Leigh syndrome	Likely pathogenic; Pathogenic	rs1260453815, rs1445075330, rs121908985, rs104893898, rs2478878843, rs2478786907, rs1554059248, rs1554062427, rs376281345, rs587776949, rs747359752, rs1740730588	RCV002307852 RCV001269113 RCV002307358 RCV002307359 RCV003123428 RCV003155692 RCV004594688 RCV000578463 RCV000578386 RCV000588112 RCV000586784 RCV000714800 RCV001193078
Mitochondrial complex I deficiency	Pathogenic; Likely pathogenic	rs104893898, rs747359752	RCV000578296 RCV000714799
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs1260453815, rs2478815137, rs1445075330, rs121908985, rs104893898, rs104893899, rs767393290, rs2478786907, rs989180511, rs2478815237, rs769106495, rs2478815275, rs2478786990, rs2478815267, rs2478787439 View all (12 more)	RCV003464420 RCV003459775 RCV000007290 RCV000007291 RCV000735424 RCV000007293 RCV003466002 RCV003466026 RCV003228710 RCV003463102 RCV003471394 RCV003463103 RCV003463104 RCV003471395 RCV003471396 RCV003471397 RCV003463106 RCV003463107 RCV003448862 RCV004576316 RCV004576317 RCV004576318 RCV000007294 RCV000133549 RCV002532977 RCV003469307 RCV001291034 RCV001260294
Mitochondrial disease	Pathogenic	rs376281345	RCV005357776
See cases	Pathogenic	rs587776949	RCV004797769

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs375549253	RCV005869375
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs375549253	RCV005869369
Colorectal cancer	Conflicting classifications of pathogenicity	rs375549253	RCV005869373
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	rs1532163, rs375549253, rs2290696	RCV005915732 RCV005869365 RCV005902260
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs375549253	RCV005869371
Hepatocellular carcinoma	Uncertain significance	rs3733833	RCV005913925
Lymphoma	Conflicting classifications of pathogenicity	rs375549253	RCV005869374
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity; Benign	rs375549253, rs2290696	RCV005869372 RCV005902262
Malignant tumor of esophagus	Conflicting classifications of pathogenicity; Benign	rs375549253, rs2290696	RCV005869367 RCV005902261
NDUFS4-related disorder	Conflicting classifications of pathogenicity; Likely benign	rs145347909, rs73754255, rs149323691, rs770122859, rs200181541	RCV004758160 RCV003917799 RCV003947635 RCV003919716 RCV003933940
Nonpapillary renal cell carcinoma	Likely benign; Conflicting classifications of pathogenicity	rs31304, rs375549253	RCV005931585 RCV005869368
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	rs31304, rs3733833	RCV005931586 RCV005913926
Uterine corpus endometrial carcinoma	Benign	rs2290696	RCV005902263
Uveal melanoma	Conflicting classifications of pathogenicity	rs375549253	RCV005869370

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)