NDUFS4

Functionⁱ

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 immediate electron acceptor for the enzyme is believed to be ubiquinone.2 Publications

GO - Molecular functionⁱ

NADH dehydrogenase (ubiquinone) activity
Source: UniProtKB
Inferred from mutant phenotypeⁱ
- 16478720

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Biological process	Electron transport, Respiratory chain, Transport

Biological process

Electron transport, Respiratory chain, Transport

Enzyme and pathway databases

Reactomeⁱ	R-HSA-611105 Respiratory electron transport R-HSA-6799198 Complex I biogenesis

Reactomeⁱ

R-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial Alternative name(s): Complex I-18 kDa Short name: CI-18 kDa Complex I-AQDQ Short name: CI-AQDQ NADH-ubiquinone oxidoreductase 18 kDa subunit
Gene namesⁱ	Name:NDUFS4
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 5

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000164258.11
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7711 NDUFS4
MIMⁱ	602694 gene
neXtProtⁱ	NX_O43181

Keywords - Cellular componentⁱ

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Mitochondrial complex I deficiency (MT-C1D)3 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease.

Leigh syndrome (LS)4 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionAn early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_078945	106 – 175	Missing in LS. 1 PublicationAdd BLAST		70
Natural variantⁱVAR_078946	119	D → H in LS. 1 PublicationCorresponds to variant dbSNP:rs747359752Ensembl.		1

Keywords - Diseaseⁱ

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNET More...DisGeNETⁱ	4724
MalaCards human disease database More...MalaCardsⁱ	NDUFS4
MIMⁱ	252010 phenotype 256000 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000164258
Orphanetⁱ	2609 Isolated NADH-CoQ reductase deficiency 255241 Leigh syndrome with leukodystrophy
PharmGKBⁱ	PA31521

Chemistry databases

ChEMBLⁱ	CHEMBL2363065
Drug and drug target database More...DrugBankⁱ	DB00157 NADH

Polymorphism and mutation databases

BioMutaⁱ	NDUFS4

BioMutaⁱ

NDUFS4

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Transit peptideⁱ	1 – 42	MitochondrionBy similarityAdd BLAST		42
ChainⁱPRO_0000020038	43 – 175	NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrialAdd BLAST		133

Proteomic databases

EPDⁱ	O43181
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O43181
PaxDbⁱ	O43181
PeptideAtlas More...PeptideAtlasⁱ	O43181
PRIDEⁱ	O43181
ProteomicsDBⁱ	48793
TopDownProteomicsⁱ	O43181

2D gel databases

UCD-2DPAGEⁱ	O43181

UCD-2DPAGEⁱ

O43181

PTM databases

CarbonylDBⁱ	O43181
iPTMnetⁱ	O43181
PhosphoSitePlusⁱ	O43181

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000164258
CleanExⁱ	HS_NDUFS4
ExpressionAtlasⁱ	O43181 baseline and differential
Genevisibleⁱ	O43181 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA003884

HPAⁱ

HPA003884

Interactionⁱ

Subunit structureⁱ

Mammalian complex I is composed of 45 different subunits. This is a component of the iron-sulfur (IP) fragment of the enzyme.2 Publications

Protein-protein interaction databases

BioGridⁱ	110803, 83 interactors
ComplexPortalⁱ	CPX-577 Mitochondrial respiratory chain complex I
CORUMⁱ	O43181
IntActⁱ	O43181, 31 interactors
Molecular INTeraction database More...MINTⁱ	O43181
STRINGⁱ	9606.ENSP00000296684

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Turnⁱ	62 – 64	Combined sources	3
Helixⁱ	69 – 74	Combined sources	6
Beta strandⁱ	76 – 80	Combined sources	5
Beta strandⁱ	86 – 88	Combined sources	3
Turnⁱ	92 – 94	Combined sources	3
Beta strandⁱ	95 – 101	Combined sources	7
Beta strandⁱ	106 – 108	Combined sources	3
Turnⁱ	110 – 113	Combined sources	4
Beta strandⁱ	115 – 118	Combined sources	4
Helixⁱ	120 – 123	Combined sources	4
Beta strandⁱ	125 – 130	Combined sources	6
Helixⁱ	131 – 141	Combined sources	11
Helixⁱ	161 – 163	Combined sources	3
Turnⁱ	166 – 169	Combined sources	4

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	5XTB	electron microscopy	3.40	L	58-175	[»]
	5XTD	electron microscopy	3.70	L	58-175	[»]
	5XTH	electron microscopy	3.90	L	58-175	[»]
	5XTI	electron microscopy	17.40	BL/L	58-175	[»]
ProteinModelPortalⁱ	O43181
SMRⁱ	O43181
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the complex I NDUFS4 subunit family.Curated

Keywords - Domainⁱ

Transit peptide

Phylogenomic databases

eggNOGⁱ	KOG3389 Eukaryota ENOG4111TR4 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000013835
HOGENOMⁱ	HOG000140414
HOVERGENⁱ	HBG003007
InParanoidⁱ	O43181
KEGG Orthology (KO) More...KOⁱ	K03937
OMAⁱ	NDLMGYQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0LT1
PhylomeDBⁱ	O43181
TreeFamⁱ	TF105619

Family and domain databases

Gene3Dⁱ	3.30.160.190, 1 hit
InterProⁱ	View protein in InterPro IPR006885 NADH_UbQ_FeS_4_mit IPR038532 NDUFS4-like_sf
PANTHERⁱ	PTHR12219 PTHR12219, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF04800 ETC_C1_NDUFA4, 1 hit

Sequenceⁱ

Sequence statusⁱ: Complete.

Sequence processingⁱ: The displayed sequence is further processed into a mature form.

O43181-1 [UniParc]FASTA Add to basket

« Hide

        10         20         30         40         50
MAAVSMSVVL RQTLWRRRAV AVAALSVSRV PTRSLRTSTW RLAQDQTQDT 
        60         70         80         90        100
QLITVDEKLD ITTLTGVPEE HIKTRKVRIF VPARNNMQSG VNNTKKWKME 
       110        120        130        140        150
FDTRERWENP LMGWASTADP LSNMVLTFST KEDAVSFAEK NGWSYDIEER 
       160        170 
KVPKPKSKSY GANFSWNKRT RVSTK

Length:175

Mass (Da):20,108

Last modified:June 1, 1998 - v1

Checksum:ⁱDE5B51DBDD76231E

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	39	T → S in AAH05270 (PubMed:15489334).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_078943	15 – 175	Missing in MT-C1D. 1 PublicationAdd BLAST	161
Natural variantⁱVAR_078944	97 – 175	Missing in MT-C1D. 1 PublicationAdd BLAST	79
Natural variantⁱVAR_078945	106 – 175	Missing in LS. 1 PublicationAdd BLAST	70
Natural variantⁱVAR_078946	119	D → H in LS. 1 PublicationCorresponds to variant dbSNP:rs747359752Ensembl.	1
Natural variantⁱVAR_012037	174	T → P. Corresponds to variant dbSNP:rs1044692Ensembl.	1

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF020351 mRNA Translation: AAB87865.1 BC005270 mRNA Translation: AAH05270.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS3960.1
NCBI Reference Sequences More...RefSeqⁱ	NP_002486.1, NM_002495.3
UniGeneⁱ	Hs.528222

Genome annotation databases

Ensemblⁱ	ENST00000296684; ENSP00000296684; ENSG00000164258
GeneIDⁱ	4724
KEGGⁱ	hsa:4724
UCSC genome browser More...UCSCⁱ	uc003jpe.3 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length
O43181	NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial		GORGO		175
NADH dehydrogenase (Ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (Fragment)		HUMAN		175
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial		PANTR		175
UPI000642AEB7		MICMU		181
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial		PONAB		175
+52

Protein	Similar proteins		Species	Score	Length
O43181	NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial		GORGO		175
NADH dehydrogenase (Ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) (Fragment)		HUMAN		175
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial		PANTR		175
UPI000642AEB7		MICMU		181
UPI0003C8A08D		VICPA		175
+114

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	AF020351 mRNA Translation: AAB87865.1 BC005270 mRNA Translation: AAH05270.1
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS3960.1
NCBI Reference Sequences More...RefSeqⁱ	NP_002486.1, NM_002495.3
UniGeneⁱ	Hs.528222

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	5XTB	electron microscopy	3.40	L	58-175	[»]
	5XTD	electron microscopy	3.70	L	58-175	[»]
	5XTH	electron microscopy	3.90	L	58-175	[»]
	5XTI	electron microscopy	17.40	BL/L	58-175	[»]
ProteinModelPortalⁱ	O43181
SMRⁱ	O43181
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110803, 83 interactors
ComplexPortalⁱ	CPX-577 Mitochondrial respiratory chain complex I
CORUMⁱ	O43181
IntActⁱ	O43181, 31 interactors
Molecular INTeraction database More...MINTⁱ	O43181
STRINGⁱ	9606.ENSP00000296684

Chemistry databases

ChEMBLⁱ	CHEMBL2363065
Drug and drug target database More...DrugBankⁱ	DB00157 NADH

PTM databases

CarbonylDBⁱ	O43181
iPTMnetⁱ	O43181
PhosphoSitePlusⁱ	O43181

Polymorphism and mutation databases

BioMutaⁱ	NDUFS4

BioMutaⁱ

NDUFS4

2D gel databases

UCD-2DPAGEⁱ	O43181

UCD-2DPAGEⁱ

O43181

Proteomic databases

EPDⁱ	O43181
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	O43181
PaxDbⁱ	O43181
PeptideAtlas More...PeptideAtlasⁱ	O43181
PRIDEⁱ	O43181
ProteomicsDBⁱ	48793
TopDownProteomicsⁱ	O43181

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	4724
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000296684; ENSP00000296684; ENSG00000164258
GeneIDⁱ	4724
KEGGⁱ	hsa:4724
UCSC genome browser More...UCSCⁱ	uc003jpe.3 human

Organism-specific databases

CTDⁱ	4724
DisGeNET More...DisGeNETⁱ	4724
EuPathDBⁱ	HostDB:ENSG00000164258.11
GeneCardsⁱ	NDUFS4
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:7711 NDUFS4
Human Protein Atlas More...HPAⁱ	HPA003884
MalaCards human disease database More...MalaCardsⁱ	NDUFS4
MIMⁱ	252010 phenotype 256000 phenotype 602694 gene
neXtProtⁱ	NX_O43181
Open Targets More...OpenTargetsⁱ	ENSG00000164258
Orphanetⁱ	2609 Isolated NADH-CoQ reductase deficiency 255241 Leigh syndrome with leukodystrophy
PharmGKBⁱ	PA31521
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG3389 Eukaryota ENOG4111TR4 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000013835
HOGENOMⁱ	HOG000140414
HOVERGENⁱ	HBG003007
InParanoidⁱ	O43181
KEGG Orthology (KO) More...KOⁱ	K03937
OMAⁱ	NDLMGYQ
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0LT1
PhylomeDBⁱ	O43181
TreeFamⁱ	TF105619

Enzyme and pathway databases

Reactomeⁱ	R-HSA-611105 Respiratory electron transport R-HSA-6799198 Complex I biogenesis

Reactomeⁱ

R-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis

Miscellaneous databases

ChiTaRSⁱ	NDUFS4 human
GeneWikiⁱ	NDUFS4
GenomeRNAiⁱ	4724
Protein Ontology More...PROⁱ	PR:O43181
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000164258
CleanExⁱ	HS_NDUFS4
ExpressionAtlasⁱ	O43181 baseline and differential
Genevisibleⁱ	O43181 HS

Family and domain databases

Gene3Dⁱ	3.30.160.190, 1 hit
InterProⁱ	View protein in InterPro IPR006885 NADH_UbQ_FeS_4_mit IPR038532 NDUFS4-like_sf
PANTHERⁱ	PTHR12219 PTHR12219, 1 hit
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF04800 ETC_C1_NDUFA4, 1 hit
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	NDUS4_HUMAN
Accessionⁱ	O43181Primary (citable) accession number: O43181 Secondary accession number(s): Q9BS69
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	July 15, 1998
	Last sequence update:	June 1, 1998
	Last modified:	June 20, 2018
	This is version 162 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references
SIMILARITY comments
Index of protein domains and families

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UniProtKB - O43181 (NDUS4_HUMAN)

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NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Mitochondrion

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

Chemistry databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

2D gel databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

Chemistry databases

PTM databases

Polymorphism and mutation databases

2D gel databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ