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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial

Gene

NDUFS6

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

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.1 Publication

GO - Molecular functioni

  • electron transfer activity Source: UniProtKB
  • NADH dehydrogenase (ubiquinone) activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processElectron transport, Respiratory chain, Transport

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial
Alternative name(s):
Complex I-13kD-A
Short name:
CI-13kD-A
NADH-ubiquinone oxidoreductase 13 kDa-A subunit
Gene namesi
Name:NDUFS6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000145494.11
HGNCiHGNC:7713 NDUFS6
MIMi603848 gene
neXtProtiNX_O75380

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex I deficiency (MT-C1D)2 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.
See also OMIM:252010
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078947115C → Y in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs267606913EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4726
MalaCardsiNDUFS6
MIMi252010 phenotype
OpenTargetsiENSG00000145494
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA31523

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

Polymorphism and mutation databases

BioMutaiNDUFS6

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 28MitochondrionBy similarityAdd BLAST28
ChainiPRO_000002002029 – 124NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrialAdd BLAST96

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei98N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiO75380
PaxDbiO75380
PeptideAtlasiO75380
PRIDEiO75380
ProteomicsDBi49952
TopDownProteomicsiO75380

2D gel databases

UCD-2DPAGEiO75380

PTM databases

iPTMnetiO75380
PhosphoSitePlusiO75380
SwissPalmiO75380

Expressioni

Gene expression databases

BgeeiENSG00000145494 Expressed in 236 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_NDUFS6
ExpressionAtlasiO75380 baseline and differential
GenevisibleiO75380 HS

Organism-specific databases

HPAiHPA064221

Interactioni

Subunit structurei

Mammalian complex I is composed of 45 different subunits (PubMed:12611891, PubMed:27626371). This is a component of the iron-sulfur (IP) fragment of the enzyme (PubMed:12611891).2 Publications

Protein-protein interaction databases

BioGridi110805, 98 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO75380
IntActiO75380, 44 interactors
MINTiO75380
STRINGi9606.ENSP00000274137

Structurei

Secondary structure

1124
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75380
SMRiO75380
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I NDUFS6 subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3456 Eukaryota
ENOG4111W6X LUCA
GeneTreeiENSGT00390000015775
HOGENOMiHOG000161276
HOVERGENiHBG006549
InParanoidiO75380
KOiK03939
OMAiGNHICGY
PhylomeDBiO75380
TreeFamiTF315128

Family and domain databases

InterProiView protein in InterPro
IPR016668 NDUFS6
IPR019401 Znf_CHCC
PfamiView protein in Pfam
PF10276 zf-CHCC, 1 hit
PIRSFiPIRSF016564 CI-13KD-A, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

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

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

O75380-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAAAMTFCRL LNRCGEAARS LPLGARCFGV RVSPTGEKVT HTGQVYDDKD
60 70 80 90 100
YRRIRFVGRQ KEVNENFAID LIAEQPVSEV ETRVIACDGG GGALGHPKVY
110 120
INLDKETKTG TCGYCGLQFR QHHH
Length:124
Mass (Da):13,712
Last modified:November 1, 1998 - v1
Checksum:i0A1465160BCA772D
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RBT3D6RBT3_HUMAN
NADH dehydrogenase [ubiquinone] iro...
NDUFS6
172Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078947115C → Y in MT-C1D. 1 PublicationCorresponds to variant dbSNP:rs267606913EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044959 mRNA Translation: AAC27799.1
BC038664 mRNA Translation: AAH38664.1
BC046155 mRNA Translation: AAH46155.1
CCDSiCCDS3866.1
PIRiJE0194
RefSeqiNP_004544.1, NM_004553.4
UniGeneiHs.408257

Genome annotation databases

EnsembliENST00000274137; ENSP00000274137; ENSG00000145494
GeneIDi4726
KEGGihsa:4726

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF044959 mRNA Translation: AAC27799.1
BC038664 mRNA Translation: AAH38664.1
BC046155 mRNA Translation: AAH46155.1
CCDSiCCDS3866.1
PIRiJE0194
RefSeqiNP_004544.1, NM_004553.4
UniGeneiHs.408257

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTBelectron microscopy3.40T29-123[»]
5XTDelectron microscopy3.70T29-123[»]
5XTHelectron microscopy3.90T29-123[»]
5XTIelectron microscopy17.40BT/T29-123[»]
ProteinModelPortaliO75380
SMRiO75380
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110805, 98 interactors
ComplexPortaliCPX-577 Mitochondrial respiratory chain complex I
CORUMiO75380
IntActiO75380, 44 interactors
MINTiO75380
STRINGi9606.ENSP00000274137

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00157 NADH

PTM databases

iPTMnetiO75380
PhosphoSitePlusiO75380
SwissPalmiO75380

Polymorphism and mutation databases

BioMutaiNDUFS6

2D gel databases

UCD-2DPAGEiO75380

Proteomic databases

EPDiO75380
PaxDbiO75380
PeptideAtlasiO75380
PRIDEiO75380
ProteomicsDBi49952
TopDownProteomicsiO75380

Protocols and materials databases

DNASUi4726
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274137; ENSP00000274137; ENSG00000145494
GeneIDi4726
KEGGihsa:4726

Organism-specific databases

CTDi4726
DisGeNETi4726
EuPathDBiHostDB:ENSG00000145494.11
GeneCardsiNDUFS6
HGNCiHGNC:7713 NDUFS6
HPAiHPA064221
MalaCardsiNDUFS6
MIMi252010 phenotype
603848 gene
neXtProtiNX_O75380
OpenTargetsiENSG00000145494
Orphaneti2609 Isolated complex I deficiency
PharmGKBiPA31523
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3456 Eukaryota
ENOG4111W6X LUCA
GeneTreeiENSGT00390000015775
HOGENOMiHOG000161276
HOVERGENiHBG006549
InParanoidiO75380
KOiK03939
OMAiGNHICGY
PhylomeDBiO75380
TreeFamiTF315128

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiNDUFS6 human
GeneWikiiNDUFS6
GenomeRNAii4726
PROiPR:O75380
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000145494 Expressed in 236 organ(s), highest expression level in tendon of biceps brachii
CleanExiHS_NDUFS6
ExpressionAtlasiO75380 baseline and differential
GenevisibleiO75380 HS

Family and domain databases

InterProiView protein in InterPro
IPR016668 NDUFS6
IPR019401 Znf_CHCC
PfamiView protein in Pfam
PF10276 zf-CHCC, 1 hit
PIRSFiPIRSF016564 CI-13KD-A, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNDUS6_HUMAN
AccessioniPrimary (citable) accession number: O75380
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1998
Last modified: November 7, 2018
This is version 150 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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