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Protein

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

Gene

NDUFS6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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 carrier 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

HGNCiHGNC:7713. NDUFS6.

Subcellular locationi

GO - Cellular componenti

  • mitochondrial inner membrane Source: Reactome
  • mitochondrial respiratory chain complex I Source: UniProtKB

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 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi4726.
MalaCardsiNDUFS6.
MIMi252010. phenotype.
OpenTargetsiENSG00000145494.
Orphaneti2609. Isolated NADH-CoQ reductase 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.
TopDownProteomicsiO75380.

2D gel databases

UCD-2DPAGEiO75380.

PTM databases

iPTMnetiO75380.
PhosphoSitePlusiO75380.
SwissPalmiO75380.

Expressioni

Gene expression databases

BgeeiENSG00000145494.
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. 97 interactors.
IntActiO75380. 28 interactors.
MINTiMINT-1427509.
STRINGi9606.ENSP00000274137.

Structurei

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.

Sequencei

Sequence statusi: Complete.

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078947115C → Y in MT-C1D. 1 Publication1

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

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: August 30, 2017
This is version 140 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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