UniProtKB - O75489 (NDUS3_HUMAN)
NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial
NDUFS3
Functioni
Catalytic activityi
- EC:7.1.1.22 Publications
GO - Molecular functioni
- electron transfer activity Source: UniProtKB
- NADH dehydrogenase (ubiquinone) activity Source: UniProtKB
- NADH dehydrogenase activity Source: UniProtKB
GO - Biological processi
- mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
- mitochondrial respiratory chain complex I assembly Source: UniProtKB
- negative regulation of cell growth Source: UniProtKB
- negative regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
- reactive oxygen species metabolic process Source: UniProtKB
- substantia nigra development Source: UniProtKB
Keywordsi
Molecular function | Oxidoreductase, Translocase |
Biological process | Electron transport, Respiratory chain, Transport |
Ligand | NAD, Ubiquinone |
Enzyme and pathway databases
BioCyci | MetaCyc:G66-32694-MONOMER |
PathwayCommonsi | O75489 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
SIGNORi | O75489 |
Names & Taxonomyi
Protein namesi | Recommended name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial (EC:7.1.1.22 Publications)Alternative name(s): Complex I-30kD Short name: CI-30kD NADH-ubiquinone oxidoreductase 30 kDa subunit |
Gene namesi | Name:NDUFS3 |
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:7710, NDUFS3 |
MIMi | 603846, gene |
neXtProti | NX_O75489 |
VEuPathDBi | HostDB:ENSG00000213619.9 |
Subcellular locationi
Mitochondrion
- Mitochondrion inner membrane 2 Publications1 Publication; Peripheral membrane protein 1 Publication; Matrix side 1 Publication
Mitochondrion
- mitochondrial inner membrane Source: UniProtKB
- mitochondrial matrix Source: Reactome
- mitochondrial membrane Source: UniProtKB
- mitochondrial respiratory chain complex I Source: UniProtKB
- mitochondrion Source: HPA
Nucleus
- nuclear body Source: HPA
Keywords - Cellular componenti
Membrane, Mitochondrion, Mitochondrion inner membranePathology & Biotechi
Involvement in diseasei
Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081411 | 140 | R → W in MC1DN8; unknown pathological significance; decrease in enzyme activity; impaired assembly of complex I. 1 PublicationCorresponds to variant dbSNP:rs142248674EnsemblClinVar. | 1 | |
Natural variantiVAR_081412 | 145 | T → I in MC1DN8; decrease in enzyme activity; increased protein instability and aggregation; compound heterozygous with W-199. 2 PublicationsCorresponds to variant dbSNP:rs28939714EnsemblClinVar. | 1 | |
Natural variantiVAR_081413 | 199 | R → W in MC1DN8; decrease in enzyme activity; impaired assembly of complex I; increased protein instability and aggregation; compound heterozygous with I-145. 4 PublicationsCorresponds to variant dbSNP:rs104894270EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variant, Primary mitochondrial diseaseOrganism-specific databases
DisGeNETi | 4722 |
GeneReviewsi | NDUFS3 |
MalaCardsi | NDUFS3 |
MIMi | 618230, phenotype |
NIAGADSi | ENSG00000213619 |
OpenTargetsi | ENSG00000213619 |
Orphaneti | 2609, Isolated complex I deficiency 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA31520 |
Miscellaneous databases
Pharosi | O75489, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00997, Doxorubicin DB00157, NADH |
DrugCentrali | O75489 |
Genetic variation databases
BioMutai | NDUFS3 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 36 | Mitochondrion1 PublicationAdd BLAST | 36 | |
ChainiPRO_0000019998 | 37 – 264 | NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrialAdd BLAST | 228 |
Proteomic databases
CPTACi | CPTAC-100 CPTAC-99 |
EPDi | O75489 |
jPOSTi | O75489 |
MassIVEi | O75489 |
MaxQBi | O75489 |
PaxDbi | O75489 |
PeptideAtlasi | O75489 |
PRIDEi | O75489 |
ProteomicsDBi | 4061 50046 [O75489-1] |
TopDownProteomicsi | O75489-1 [O75489-1] |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00025796 O75489 |
PTM databases
CarbonylDBi | O75489 |
iPTMneti | O75489 |
PhosphoSitePlusi | O75489 |
SwissPalmi | O75489 |
Expressioni
Gene expression databases
Bgeei | ENSG00000213619, Expressed in muscle of leg and 244 other tissues |
ExpressionAtlasi | O75489, baseline and differential |
Genevisiblei | O75489, HS |
Organism-specific databases
HPAi | ENSG00000213619, Tissue enhanced (skeletal) |
Interactioni
Subunit structurei
Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891).
Interacts with NDUFAF3 (PubMed:19463981).
Interacts with RAB5IF (PubMed:31536960).
Found in subcomplexes containing subunits NDUFS2, MT-ND1 and NDUFA13 (PubMed:17209039, PubMed:18826940).
5 PublicationsBinary interactionsi
Hide detailsO75489
Protein-protein interaction databases
BioGRIDi | 110801, 331 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | O75489 |
IntActi | O75489, 192 interactors |
MINTi | O75489 |
STRINGi | 9606.ENSP00000263774 |
Chemistry databases
BindingDBi | O75489 |
Miscellaneous databases
RNActi | O75489, protein |
Structurei
Secondary structure
3D structure databases
SMRi | O75489 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1713, Eukaryota |
GeneTreei | ENSGT00390000017480 |
HOGENOMi | CLU_042628_0_1_1 |
InParanoidi | O75489 |
OMAi | HHQAQFT |
OrthoDBi | 1276923at2759 |
PhylomeDBi | O75489 |
TreeFami | TF314794 |
Family and domain databases
Gene3Di | 3.30.460.80, 1 hit |
HAMAPi | MF_01357, NDH1_NuoC, 1 hit |
InterProi | View protein in InterPro IPR010218, NADH_DH_suC IPR037232, NADH_quin_OxRdtase_su_C/D-like IPR001268, NADH_UbQ_OxRdtase_30kDa_su IPR020396, NADH_UbQ_OxRdtase_CS |
Pfami | View protein in Pfam PF00329, Complex1_30kDa, 1 hit |
SUPFAMi | SSF143243, SSF143243, 1 hit |
TIGRFAMsi | TIGR01961, NuoC_fam, 1 hit |
PROSITEi | View protein in PROSITE PS00542, COMPLEX1_30K, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAAAAVARLW WRGILGASAL TRGTGRPSVL LLPVRRESAG ADTRPTVRPR
60 70 80 90 100
NDVAHKQLSA FGEYVAEILP KYVQQVQVSC FNELEVCIHP DGVIPVLTFL
110 120 130 140 150
RDHTNAQFKS LVDLTAVDVP TRQNRFEIVY NLLSLRFNSR IRVKTYTDEL
160 170 180 190 200
TPIESAVSVF KAANWYEREI WDMFGVFFAN HPDLRRILTD YGFEGHPFRK
210 220 230 240 250
DFPLSGYVEL RYDDEVKRVV AEPVELAQEF RKFDLNSPWE AFPVYRQPPE
260
SLKLEAGDKK PDAK
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PS48 | E9PS48_HUMAN | NADH dehydrogenase [ubiquinone] iro... | NDUFS3 | 161 | Annotation score: | ||
E9PJE7 | E9PJE7_HUMAN | NADH dehydrogenase [ubiquinone] iro... | NDUFS3 | 67 | Annotation score: | ||
G3V194 | G3V194_HUMAN | NADH dehydrogenase (Ubiquinone) Fe-... | NDUFS3 hCG_25184 | 121 | Annotation score: | ||
E9PKL8 | E9PKL8_HUMAN | NADH dehydrogenase [ubiquinone] iro... | NDUFS3 | 77 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1 – 7 | MAAAAVA → MAAGRY (PubMed:10931946).Curated | 7 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081411 | 140 | R → W in MC1DN8; unknown pathological significance; decrease in enzyme activity; impaired assembly of complex I. 1 PublicationCorresponds to variant dbSNP:rs142248674EnsemblClinVar. | 1 | |
Natural variantiVAR_081412 | 145 | T → I in MC1DN8; decrease in enzyme activity; increased protein instability and aggregation; compound heterozygous with W-199. 2 PublicationsCorresponds to variant dbSNP:rs28939714EnsemblClinVar. | 1 | |
Natural variantiVAR_081413 | 199 | R → W in MC1DN8; decrease in enzyme activity; impaired assembly of complex I; increased protein instability and aggregation; compound heterozygous with I-145. 4 PublicationsCorresponds to variant dbSNP:rs104894270EnsemblClinVar. | 1 | |
Natural variantiVAR_012036 | 249 | P → Q. Corresponds to variant dbSNP:rs9600Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057065 | 128 – 132 | IVYNL → VSWEI in isoform 2. 1 Publication | 5 | |
Alternative sequenceiVSP_057066 | 133 – 264 | Missing in isoform 2. 1 PublicationAdd BLAST | 132 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF067139 mRNA Translation: AAC27451.1 AF200954 Genomic DNA Translation: AAG17541.1 AF100743 mRNA Translation: AAD40386.1 AK294167 mRNA Translation: BAG57489.1 AK313802 mRNA Translation: BAG36538.1 AC090559 Genomic DNA No translation available. AC104942 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW67895.1 BC000617 mRNA Translation: AAH00617.1 |
CCDSi | CCDS7941.1 [O75489-1] |
PIRi | JE0195 |
RefSeqi | NP_004542.1, NM_004551.2 [O75489-1] |
Genome annotation databases
Ensembli | ENST00000263774; ENSP00000263774; ENSG00000213619 [O75489-1] ENST00000645714; ENSP00000496383; ENSG00000285387 [O75489-1] ENST00000646736; ENSP00000494074; ENSG00000285387 [O75489-2] |
GeneIDi | 4722 |
KEGGi | hsa:4722 |
UCSCi | uc001nga.3, human [O75489-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF067139 mRNA Translation: AAC27451.1 AF200954 Genomic DNA Translation: AAG17541.1 AF100743 mRNA Translation: AAD40386.1 AK294167 mRNA Translation: BAG57489.1 AK313802 mRNA Translation: BAG36538.1 AC090559 Genomic DNA No translation available. AC104942 Genomic DNA No translation available. CH471064 Genomic DNA Translation: EAW67895.1 BC000617 mRNA Translation: AAH00617.1 |
CCDSi | CCDS7941.1 [O75489-1] |
PIRi | JE0195 |
RefSeqi | NP_004542.1, NM_004551.2 [O75489-1] |
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 | P | 43-250 | [»] | |
5XTD | electron microscopy | 3.70 | P | 43-250 | [»] | |
5XTH | electron microscopy | 3.90 | P | 43-250 | [»] | |
5XTI | electron microscopy | 17.40 | BP/P | 43-250 | [»] | |
SMRi | O75489 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110801, 331 interactors |
ComplexPortali | CPX-577, Mitochondrial respiratory chain complex I |
CORUMi | O75489 |
IntActi | O75489, 192 interactors |
MINTi | O75489 |
STRINGi | 9606.ENSP00000263774 |
Chemistry databases
BindingDBi | O75489 |
ChEMBLi | CHEMBL2363065 |
DrugBanki | DB00997, Doxorubicin DB00157, NADH |
DrugCentrali | O75489 |
PTM databases
CarbonylDBi | O75489 |
iPTMneti | O75489 |
PhosphoSitePlusi | O75489 |
SwissPalmi | O75489 |
Genetic variation databases
BioMutai | NDUFS3 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00025796 O75489 |
Proteomic databases
CPTACi | CPTAC-100 CPTAC-99 |
EPDi | O75489 |
jPOSTi | O75489 |
MassIVEi | O75489 |
MaxQBi | O75489 |
PaxDbi | O75489 |
PeptideAtlasi | O75489 |
PRIDEi | O75489 |
ProteomicsDBi | 4061 50046 [O75489-1] |
TopDownProteomicsi | O75489-1 [O75489-1] |
Protocols and materials databases
Antibodypediai | 1262, 298 antibodies |
DNASUi | 4722 |
Genome annotation databases
Ensembli | ENST00000263774; ENSP00000263774; ENSG00000213619 [O75489-1] ENST00000645714; ENSP00000496383; ENSG00000285387 [O75489-1] ENST00000646736; ENSP00000494074; ENSG00000285387 [O75489-2] |
GeneIDi | 4722 |
KEGGi | hsa:4722 |
UCSCi | uc001nga.3, human [O75489-1] |
Organism-specific databases
CTDi | 4722 |
DisGeNETi | 4722 |
GeneCardsi | NDUFS3 |
GeneReviewsi | NDUFS3 |
HGNCi | HGNC:7710, NDUFS3 |
HPAi | ENSG00000213619, Tissue enhanced (skeletal) |
MalaCardsi | NDUFS3 |
MIMi | 603846, gene 618230, phenotype |
neXtProti | NX_O75489 |
NIAGADSi | ENSG00000213619 |
OpenTargetsi | ENSG00000213619 |
Orphaneti | 2609, Isolated complex I deficiency 255241, Leigh syndrome with leukodystrophy |
PharmGKBi | PA31520 |
VEuPathDBi | HostDB:ENSG00000213619.9 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1713, Eukaryota |
GeneTreei | ENSGT00390000017480 |
HOGENOMi | CLU_042628_0_1_1 |
InParanoidi | O75489 |
OMAi | HHQAQFT |
OrthoDBi | 1276923at2759 |
PhylomeDBi | O75489 |
TreeFami | TF314794 |
Enzyme and pathway databases
BioCyci | MetaCyc:G66-32694-MONOMER |
PathwayCommonsi | O75489 |
Reactomei | R-HSA-611105, Respiratory electron transport R-HSA-6799198, Complex I biogenesis |
SIGNORi | O75489 |
Miscellaneous databases
BioGRID-ORCSi | 4722, 199 hits in 997 CRISPR screens |
ChiTaRSi | NDUFS3, human |
GeneWikii | NDUFS3 |
GenomeRNAii | 4722 |
Pharosi | O75489, Tclin |
PROi | PR:O75489 |
RNActi | O75489, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000213619, Expressed in muscle of leg and 244 other tissues |
ExpressionAtlasi | O75489, baseline and differential |
Genevisiblei | O75489, HS |
Family and domain databases
Gene3Di | 3.30.460.80, 1 hit |
HAMAPi | MF_01357, NDH1_NuoC, 1 hit |
InterProi | View protein in InterPro IPR010218, NADH_DH_suC IPR037232, NADH_quin_OxRdtase_su_C/D-like IPR001268, NADH_UbQ_OxRdtase_30kDa_su IPR020396, NADH_UbQ_OxRdtase_CS |
Pfami | View protein in Pfam PF00329, Complex1_30kDa, 1 hit |
SUPFAMi | SSF143243, SSF143243, 1 hit |
TIGRFAMsi | TIGR01961, NuoC_fam, 1 hit |
PROSITEi | View protein in PROSITE PS00542, COMPLEX1_30K, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | NDUS3_HUMAN | |
Accessioni | O75489Primary (citable) accession number: O75489 Secondary accession number(s): B2R9J1, B4DFM8, Q9UNQ8 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | November 1, 1998 | |
Last modified: | April 7, 2021 | |
This is version 204 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: 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