UniProtKB - O43181 (NDUS4_HUMAN)
NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial
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.
3 PublicationsGO - Molecular functioni
- NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
GO - Biological processi
- brain development Source: UniProtKB
- cellular respiration Source: UniProtKB
- mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
- positive regulation of fibroblast proliferation Source: UniProtKB
- reactive oxygen species metabolic process Source: UniProtKB
- regulation of protein phosphorylation Source: MGI
- response to cAMP Source: UniProtKB
Keywordsi
Biological process | Electron transport, Respiratory chain, Transport |
Enzyme and pathway databases
PathwayCommonsi | O43181 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
SignaLinki | O43181 |
SIGNORi | O43181 |
Names & Taxonomyi
Protein namesi | Recommended name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrialAlternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7711, NDUFS4 |
MIMi | 602694, gene |
neXtProti | NX_O43181 |
VEuPathDBi | HostDB:ENSG00000164258 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 3 Publications; Peripheral membrane protein 1 Publication; Matrix side 1 Publication
Note: The interaction with BCAP31 mediates mitochondria localization.1 Publication
Mitochondrion
- mitochondrial inner membrane Source: ComplexPortal
- mitochondrial respiratory chain complex I Source: UniProtKB
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1)7 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078943 | 15 – 175 | Missing in MC1DN1; loss of mitochondrial respiratory complex I; altered nonsense mediated mRNA decay. 2 PublicationsAdd BLAST | 161 | |
Natural variantiVAR_078944 | 97 – 175 | Missing in MC1DN1. 1 PublicationAdd BLAST | 79 | |
Natural variantiVAR_078945 | 106 – 175 | Missing in MC1DN1. 1 PublicationAdd BLAST | 70 | |
Natural variantiVAR_078946 | 119 | D → H in MC1DN1. 1 PublicationCorresponds to variant dbSNP:rs747359752EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 173 | S → A: Loss of phosphorylation. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 4724 |
GeneReviewsi | NDUFS4 |
MalaCardsi | NDUFS4 |
MIMi | 252010, phenotype |
OpenTargetsi | ENSG00000164258 |
Orphaneti | 2609, Isolated complex I deficiency 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA31521 |
Miscellaneous databases
Pharosi | O43181, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00157, NADH |
DrugCentrali | O43181 |
Genetic variation databases
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 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 173 | Phosphoserine; by PKA1 Publication | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O43181 |
jPOSTi | O43181 |
MassIVEi | O43181 |
MaxQBi | O43181 |
PaxDbi | O43181 |
PeptideAtlasi | O43181 |
PRIDEi | O43181 |
ProteomicsDBi | 48793 |
TopDownProteomicsi | O43181 |
2D gel databases
UCD-2DPAGEi | O43181 |
PTM databases
CarbonylDBi | O43181 |
GlyGeni | O43181, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O43181 |
PhosphoSitePlusi | O43181 |
Expressioni
Gene expression databases
Bgeei | ENSG00000164258, Expressed in quadriceps femoris and 246 other tissues |
ExpressionAtlasi | O43181, baseline and differential |
Genevisiblei | O43181, HS |
Organism-specific databases
HPAi | ENSG00000164258, Tissue enhanced (tongue) |
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.
Interacts with BCAP31 and TOMM40; the interaction mediates its translocation to the mitochondria; the interaction with BCAP31 is direct (PubMed:31206022).
3 PublicationsProtein-protein interaction databases
BioGRIDi | 110803, 182 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | O43181 |
IntActi | O43181, 48 interactors |
MINTi | O43181 |
STRINGi | 9606.ENSP00000296684 |
Chemistry databases
BindingDBi | O43181 |
Miscellaneous databases
RNActi | O43181, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O43181 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 151 – 175 | DisorderedSequence analysisAdd BLAST | 25 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 160 – 175 | Polar residuesSequence analysisAdd BLAST | 16 |
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG3389, Eukaryota |
GeneTreei | ENSGT00390000013835 |
HOGENOMi | CLU_077196_3_0_1 |
InParanoidi | O43181 |
OMAi | DYMQGTI |
OrthoDBi | 1507807at2759 |
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 |
Pfami | View protein in Pfam PF04800, ETC_C1_NDUFA4, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y9M8 | H0Y9M8_HUMAN | NADH dehydrogenase [ubiquinone] iro... | NDUFS4 | 116 | Annotation score: | ||
D6R916 | D6R916_HUMAN | NADH dehydrogenase [ubiquinone] iro... | NDUFS4 | 73 | Annotation score: | ||
D6REP1 | D6REP1_HUMAN | NADH dehydrogenase [ubiquinone] iro... | NDUFS4 | 49 | Annotation score: | ||
D6RI09 | D6RI09_HUMAN | NADH dehydrogenase Fe-S protein 4 1... | NDUFS4 | 131 | Annotation score: |
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 | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078943 | 15 – 175 | Missing in MC1DN1; loss of mitochondrial respiratory complex I; altered nonsense mediated mRNA decay. 2 PublicationsAdd BLAST | 161 | |
Natural variantiVAR_078944 | 97 – 175 | Missing in MC1DN1. 1 PublicationAdd BLAST | 79 | |
Natural variantiVAR_078945 | 106 – 175 | Missing in MC1DN1. 1 PublicationAdd BLAST | 70 | |
Natural variantiVAR_078946 | 119 | D → H in MC1DN1. 1 PublicationCorresponds to variant dbSNP:rs747359752EnsemblClinVar. | 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 |
CCDSi | CCDS3960.1 |
RefSeqi | NP_002486.1, NM_002495.3 |
Genome annotation databases
Ensembli | ENST00000296684; ENSP00000296684; ENSG00000164258 |
GeneIDi | 4724 |
KEGGi | hsa:4724 |
MANE-Selecti | ENST00000296684.10; ENSP00000296684.5; NM_002495.4; NP_002486.1 |
UCSCi | uc003jpe.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF020351 mRNA Translation: AAB87865.1 BC005270 mRNA Translation: AAH05270.1 |
CCDSi | CCDS3960.1 |
RefSeqi | NP_002486.1, NM_002495.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi 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 | [»] | |
SMRi | O43181 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110803, 182 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | O43181 |
IntActi | O43181, 48 interactors |
MINTi | O43181 |
STRINGi | 9606.ENSP00000296684 |
Chemistry databases
BindingDBi | O43181 |
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00157, NADH |
DrugCentrali | O43181 |
PTM databases
CarbonylDBi | O43181 |
GlyGeni | O43181, 1 site, 1 O-linked glycan (1 site) |
iPTMneti | O43181 |
PhosphoSitePlusi | O43181 |
Genetic variation databases
BioMutai | NDUFS4 |
2D gel databases
UCD-2DPAGEi | O43181 |
Proteomic databases
EPDi | O43181 |
jPOSTi | O43181 |
MassIVEi | O43181 |
MaxQBi | O43181 |
PaxDbi | O43181 |
PeptideAtlasi | O43181 |
PRIDEi | O43181 |
ProteomicsDBi | 48793 |
TopDownProteomicsi | O43181 |
Protocols and materials databases
Antibodypediai | 1269, 301 antibodies from 34 providers |
DNASUi | 4724 |
Genome annotation databases
Ensembli | ENST00000296684; ENSP00000296684; ENSG00000164258 |
GeneIDi | 4724 |
KEGGi | hsa:4724 |
MANE-Selecti | ENST00000296684.10; ENSP00000296684.5; NM_002495.4; NP_002486.1 |
UCSCi | uc003jpe.3, human |
Organism-specific databases
CTDi | 4724 |
DisGeNETi | 4724 |
GeneCardsi | NDUFS4 |
GeneReviewsi | NDUFS4 |
HGNCi | HGNC:7711, NDUFS4 |
HPAi | ENSG00000164258, Tissue enhanced (tongue) |
MalaCardsi | NDUFS4 |
MIMi | 252010, phenotype 602694, gene |
neXtProti | NX_O43181 |
OpenTargetsi | ENSG00000164258 |
Orphaneti | 2609, Isolated complex I deficiency 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA31521 |
VEuPathDBi | HostDB:ENSG00000164258 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3389, Eukaryota |
GeneTreei | ENSGT00390000013835 |
HOGENOMi | CLU_077196_3_0_1 |
InParanoidi | O43181 |
OMAi | DYMQGTI |
OrthoDBi | 1507807at2759 |
PhylomeDBi | O43181 |
TreeFami | TF105619 |
Enzyme and pathway databases
PathwayCommonsi | O43181 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
SignaLinki | O43181 |
SIGNORi | O43181 |
Miscellaneous databases
BioGRID-ORCSi | 4724, 6 hits in 1045 CRISPR screens |
ChiTaRSi | NDUFS4, human |
GeneWikii | NDUFS4 |
GenomeRNAii | 4724 |
Pharosi | O43181, Tclin |
PROi | PR:O43181 |
RNActi | O43181, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000164258, Expressed in quadriceps femoris and 246 other tissues |
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 |
Pfami | View protein in Pfam PF04800, ETC_C1_NDUFA4, 1 hit |
MobiDBi | 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: | February 23, 2022 | |
This is version 184 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, Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - 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