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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial

Gene

NDUFS8

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for 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 (By similarity). May donate electrons to ubiquinone.By similarity

Catalytic activityi

NADH + ubiquinone + 5 H+(In) = NAD+ + ubiquinol + 4 H+(Out).
NADH + acceptor = NAD+ + reduced acceptor.

Cofactori

[4Fe-4S] clusterBy similarityNote: Binds 2 [4Fe-4S] clusters per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi111Iron-sulfur 1 (4Fe-4S)By similarity1
Metal bindingi114Iron-sulfur 1 (4Fe-4S)By similarity1
Metal bindingi117Iron-sulfur 1 (4Fe-4S)By similarity1
Metal bindingi121Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi150Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi153Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi156Iron-sulfur 2 (4Fe-4S)By similarity1
Metal bindingi160Iron-sulfur 1 (4Fe-4S)By similarity1

GO - Molecular functioni

  • 4 iron, 4 sulfur cluster binding Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW
  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

  • mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB
  • response to oxidative stress Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Keywords - Ligandi

4Fe-4S, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

Enzyme and pathway databases

BioCyciZFISH:HS03332-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-6799198. Complex I biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (EC:1.6.5.3, EC:1.6.99.3)
Alternative name(s):
Complex I-23kD
Short name:
CI-23kD
NADH-ubiquinone oxidoreductase 23 kDa subunit
TYKY subunit
Gene namesi
Name:NDUFS8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:7715. NDUFS8.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial matrix Source: Reactome
  • mitochondrial respiratory chain complex I Source: UniProtKB
  • mitochondrion Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Leigh syndrome (LS)1 Publication
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.
See also OMIM:256000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01953879P → L in LS. 1 PublicationCorresponds to variant rs28939679dbSNPEnsembl.1
Natural variantiVAR_019539102R → H in LS. 1 PublicationCorresponds to variant rs121912638dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Leigh syndrome

Organism-specific databases

DisGeNETi4728.
MalaCardsiNDUFS8.
MIMi256000. phenotype.
OpenTargetsiENSG00000110717.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31525.

Chemistry databases

ChEMBLiCHEMBL2363065.

Polymorphism and mutation databases

BioMutaiNDUFS8.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 34MitochondrionBy similarityAdd BLAST34
ChainiPRO_000002001235 – 210NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrialAdd BLAST176

Proteomic databases

EPDiO00217.
MaxQBiO00217.
PaxDbiO00217.
PeptideAtlasiO00217.
PRIDEiO00217.
TopDownProteomicsiO00217.

2D gel databases

OGPiO00217.

PTM databases

iPTMnetiO00217.
PhosphoSitePlusiO00217.
SwissPalmiO00217.

Expressioni

Gene expression databases

BgeeiENSG00000110717.
CleanExiHS_NDUFS8.
ExpressionAtlasiO00217. baseline and differential.
GenevisibleiO00217. HS.

Organism-specific databases

HPAiHPA018524.

Interactioni

Subunit structurei

Mammalian complex I is composed of 45 different subunits.1 Publication

Protein-protein interaction databases

BioGridi110806. 58 interactors.
IntActiO00217. 22 interactors.
MINTiMINT-2997478.
STRINGi9606.ENSP00000315774.

Structurei

3D structure databases

ProteinModelPortaliO00217.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini102 – 1314Fe-4S ferredoxin-type 1Add BLAST30
Domaini141 – 1704Fe-4S ferredoxin-type 2Add BLAST30

Sequence similaritiesi

Belongs to the complex I 23 kDa subunit family.Curated
Contains 2 4Fe-4S ferredoxin-type domains.Curated

Keywords - Domaini

Repeat, Transit peptide

Phylogenomic databases

eggNOGiKOG3256. Eukaryota.
COG1143. LUCA.
GeneTreeiENSGT00390000003049.
HOGENOMiHOG000228289.
HOVERGENiHBG006547.
InParanoidiO00217.
KOiK03941.
OMAiRGDLYYT.
OrthoDBiEOG091G0OQD.
PhylomeDBiO00217.
TreeFamiTF105610.

Family and domain databases

HAMAPiMF_01351. NDH1_NuoI. 1 hit.
InterProiIPR017896. 4Fe4S_Fe-S-bd.
IPR017900. 4Fe4S_Fe_S_CS.
IPR010226. NADH_quinone_OxRdtase_chainI.
[Graphical view]
PfamiPF12838. Fer4_7. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01971. NuoI. 1 hit.
PROSITEiPS00198. 4FE4S_FER_1. 2 hits.
PS51379. 4FE4S_FER_2. 2 hits.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

O00217-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MRCLTTPMLL RALAQAARAG PPGGRSLHSS AVAATYKYVN MQDPEMDMKS
60 70 80 90 100
VTDRAARTLL WTELFRGLGM TLSYLFREPA TINYPFEKGP LSPRFRGEHA
110 120 130 140 150
LRRYPSGEER CIACKLCEAI CPAQAITIEA EPRADGSRRT TRYDIDMTKC
160 170 180 190 200
IYCGFCQEAC PVDAIVEGPN FEFSTETHEE LLYNKEKLLN NGDKWEAEIA
210
ANIQADYLYR
Length:210
Mass (Da):23,705
Last modified:July 1, 1997 - v1
Checksum:i8C3EBD205BFA0112
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01953879P → L in LS. 1 PublicationCorresponds to variant rs28939679dbSNPEnsembl.1
Natural variantiVAR_019539102R → H in LS. 1 PublicationCorresponds to variant rs121912638dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U65579 mRNA. Translation: AAB51776.1.
AF038406 Genomic DNA. Translation: AAC34273.1.
AK314546 mRNA. Translation: BAG37133.1.
BC119754 mRNA. Translation: AAI19755.1.
CCDSiCCDS8176.1.
RefSeqiNP_002487.1. NM_002496.3.
XP_005274070.1. XM_005274013.1.
XP_005274071.1. XM_005274014.2.
XP_011543355.1. XM_011545053.2.
UniGeneiHs.90443.

Genome annotation databases

EnsembliENST00000313468; ENSP00000315774; ENSG00000110717.
GeneIDi4728.
KEGGihsa:4728.
UCSCiuc001onc.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U65579 mRNA. Translation: AAB51776.1.
AF038406 Genomic DNA. Translation: AAC34273.1.
AK314546 mRNA. Translation: BAG37133.1.
BC119754 mRNA. Translation: AAI19755.1.
CCDSiCCDS8176.1.
RefSeqiNP_002487.1. NM_002496.3.
XP_005274070.1. XM_005274013.1.
XP_005274071.1. XM_005274014.2.
XP_011543355.1. XM_011545053.2.
UniGeneiHs.90443.

3D structure databases

ProteinModelPortaliO00217.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110806. 58 interactors.
IntActiO00217. 22 interactors.
MINTiMINT-2997478.
STRINGi9606.ENSP00000315774.

Chemistry databases

ChEMBLiCHEMBL2363065.

PTM databases

iPTMnetiO00217.
PhosphoSitePlusiO00217.
SwissPalmiO00217.

Polymorphism and mutation databases

BioMutaiNDUFS8.

2D gel databases

OGPiO00217.

Proteomic databases

EPDiO00217.
MaxQBiO00217.
PaxDbiO00217.
PeptideAtlasiO00217.
PRIDEiO00217.
TopDownProteomicsiO00217.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000313468; ENSP00000315774; ENSG00000110717.
GeneIDi4728.
KEGGihsa:4728.
UCSCiuc001onc.4. human.

Organism-specific databases

CTDi4728.
DisGeNETi4728.
GeneCardsiNDUFS8.
HGNCiHGNC:7715. NDUFS8.
HPAiHPA018524.
MalaCardsiNDUFS8.
MIMi256000. phenotype.
602141. gene.
neXtProtiNX_O00217.
OpenTargetsiENSG00000110717.
Orphaneti2609. Isolated NADH-CoQ reductase deficiency.
255241. Leigh syndrome with leukodystrophy.
PharmGKBiPA31525.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3256. Eukaryota.
COG1143. LUCA.
GeneTreeiENSGT00390000003049.
HOGENOMiHOG000228289.
HOVERGENiHBG006547.
InParanoidiO00217.
KOiK03941.
OMAiRGDLYYT.
OrthoDBiEOG091G0OQD.
PhylomeDBiO00217.
TreeFamiTF105610.

Enzyme and pathway databases

BioCyciZFISH:HS03332-MONOMER.
ReactomeiR-HSA-611105. Respiratory electron transport.
R-HSA-6799198. Complex I biogenesis.

Miscellaneous databases

GeneWikiiNDUFS8.
GenomeRNAii4728.
PROiO00217.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110717.
CleanExiHS_NDUFS8.
ExpressionAtlasiO00217. baseline and differential.
GenevisibleiO00217. HS.

Family and domain databases

HAMAPiMF_01351. NDH1_NuoI. 1 hit.
InterProiIPR017896. 4Fe4S_Fe-S-bd.
IPR017900. 4Fe4S_Fe_S_CS.
IPR010226. NADH_quinone_OxRdtase_chainI.
[Graphical view]
PfamiPF12838. Fer4_7. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01971. NuoI. 1 hit.
PROSITEiPS00198. 4FE4S_FER_1. 2 hits.
PS51379. 4FE4S_FER_2. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiNDUS8_HUMAN
AccessioniPrimary (citable) accession number: O00217
Secondary accession number(s): B2RB86, Q0VDA8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 1, 1997
Last modified: November 30, 2016
This is version 164 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.