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Protein

NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial

Gene

NDUFS7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.1 Publication

Catalytic activityi

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

Cofactori

[4Fe-4S] clusterCuratedNote: Binds 1 [4Fe-4S] cluster.Curated

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi88Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi89Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi153Iron-sulfur (4Fe-4S)Sequence analysis1
Metal bindingi183Iron-sulfur (4Fe-4S)Sequence analysis1

GO - Molecular functioni

GO - Biological processi

  • mitochondrial electron transport, NADH to ubiquinone Source: UniProtKB
  • mitochondrial respiratory chain complex I assembly Source: UniProtKB

Keywordsi

Molecular functionOxidoreductase
Biological processElectron transport, Respiratory chain, Transport
Ligand4Fe-4S, Iron, Iron-sulfur, Metal-binding, NAD, Ubiquinone

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 7, mitochondrial (EC:1.6.5.3, EC:1.6.99.3)
Alternative name(s):
Complex I-20kD
Short name:
CI-20kD
NADH-ubiquinone oxidoreductase 20 kDa subunit
PSST subunit1 Publication
Gene namesi
Name:NDUFS7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

EuPathDBiHostDB:ENSG00000115286.19
HGNCiHGNC:7714 NDUFS7
MIMi601825 gene
neXtProtiNX_O75251

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

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
Mitochondrial complex I deficiency (MT-C1D)1 Publication
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_008848122V → M in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs104894705EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leigh syndrome, Primary mitochondrial disease

Organism-specific databases

DisGeNETi374291
MalaCardsiNDUFS7
MIMi252010 phenotype
256000 phenotype
OpenTargetsiENSG00000115286
Orphaneti2609 Isolated NADH-CoQ reductase deficiency
255241 Leigh syndrome with leukodystrophy
PharmGKBiPA31524

Chemistry databases

ChEMBLiCHEMBL2363065
DrugBankiDB00997 Doxorubicin
DB00157 NADH

Polymorphism and mutation databases

BioMutaiNDUFS7

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 38MitochondrionBy similarityAdd BLAST38
ChainiPRO_000002002739 – 213NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrialAdd BLAST175

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei111Hydroxylated arginineBy similarity1

Post-translational modificationi

Hydroxylated ar Arg-111 by NDUFAF5 early in the pathway of assembly of complex I, before the formation of the juncture between peripheral and membrane arms.1 Publication

Keywords - PTMi

Hydroxylation

Proteomic databases

EPDiO75251
PaxDbiO75251
PeptideAtlasiO75251
PRIDEiO75251
TopDownProteomicsiO75251-1 [O75251-1]

PTM databases

iPTMnetiO75251
PhosphoSitePlusiO75251
SwissPalmiO75251

Expressioni

Gene expression databases

BgeeiENSG00000115286
CleanExiHS_NDUFS7
ExpressionAtlasiO75251 baseline and differential
GenevisibleiO75251 HS

Interactioni

Subunit structurei

Complex I is composed of 45 different subunits This is a component of the iron-sulfur (IP) fragment of the enzyme.1 Publication

Protein-protein interaction databases

BioGridi131889, 95 interactors
CORUMiO75251
IntActiO75251, 34 interactors
MINTiO75251
STRINGi9606.ENSP00000233627

Structurei

Secondary structure

1213
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi60 – 76Combined sources17
Helixi90 – 96Combined sources7
Turni99 – 101Combined sources3
Helixi103 – 106Combined sources4
Turni114 – 116Combined sources3
Beta strandi119 – 121Combined sources3
Turni128 – 130Combined sources3
Helixi131 – 140Combined sources10
Helixi151 – 156Combined sources6
Helixi158 – 160Combined sources3
Beta strandi162 – 166Combined sources5
Helixi170 – 172Combined sources3
Helixi187 – 202Combined sources16
Helixi206 – 211Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5XTBelectron microscopy3.40C58-213[»]
5XTDelectron microscopy3.70C58-213[»]
5XTHelectron microscopy3.90C58-213[»]
5XTIelectron microscopy17.40BC/C58-213[»]
ProteinModelPortaliO75251
SMRiO75251
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the complex I 20 kDa subunit family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG1687 Eukaryota
COG0377 LUCA
GeneTreeiENSGT00390000006565
HOGENOMiHOG000228249
HOVERGENiHBG001576
InParanoidiO75251
KOiK03940
PhylomeDBiO75251
TreeFamiTF312859

Family and domain databases

HAMAPiMF_01356 NDH1_NuoB, 1 hit
InterProiView protein in InterPro
IPR006137 NADH_UbQ_OxRdtase-like_20kDa
IPR006138 NADH_UQ_OxRdtase_20Kd_su
PfamiView protein in Pfam
PF01058 Oxidored_q6, 1 hit
TIGRFAMsiTIGR01957 nuoB_fam, 1 hit
PROSITEiView protein in PROSITE
PS01150 COMPLEX1_20K, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O75251-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAVLSAPGLR GFRILGLRSS VGPAVQARGV HQSVATDGPS STQPALPKAR
60 70 80 90 100
AVAPKPSSRG EYVVAKLDDL VNWARRSSLW PMTFGLACCA VEMMHMAAPR
110 120 130 140 150
YDMDRFGVVF RASPRQSDVM IVAGTLTNKM APALRKVYDQ MPEPRYVVSM
160 170 180 190 200
GSCANGGGYY HYSYSVVRGC DRIVPVDIYI PGCPPTAEAL LYGILQLQRK
210
IKRERRLQIW YRR
Length:213
Mass (Da):23,564
Last modified:March 21, 2006 - v3
Checksum:iB3547EA24643C1B0
GO
Isoform 2 (identifier: O75251-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     183-213: CPPTAEALLYGILQLQRKIKRERRLQIWYRR → RAGTAPPTRELETGPAPHGARRPL

Note: No experimental confirmation available.
Show »
Length:206
Mass (Da):22,203
Checksum:i692E9A48461A8CBA
GO

Sequence cautioni

The sequence AAC27669 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01448223P → L1 PublicationCorresponds to variant dbSNP:rs1142530EnsemblClinVar.1
Natural variantiVAR_008848122V → M in MT-C1D. 2 PublicationsCorresponds to variant dbSNP:rs104894705EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_057067183 – 213CPPTA…IWYRR → RAGTAPPTRELETGPAPHGA RRPL in isoform 2. 1 PublicationAdd BLAST31

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK091623 mRNA Translation: BAG52394.1
AC005329 Genomic DNA Translation: AAC27669.1 Sequence problems.
BC001715 mRNA Translation: AAH01715.2
BC005954 mRNA Translation: AAH05954.1
BC111517 mRNA Translation: AAI11518.1
CCDSiCCDS12063.1 [O75251-1]
RefSeqiNP_077718.3, NM_024407.4 [O75251-1]
UniGeneiHs.211914

Genome annotation databases

EnsembliENST00000233627; ENSP00000233627; ENSG00000115286 [O75251-1]
ENST00000313408; ENSP00000364262; ENSG00000115286 [O75251-2]
ENST00000546283; ENSP00000440348; ENSG00000115286 [O75251-2]
GeneIDi374291
KEGGihsa:374291
UCSCiuc060qzv.1 human [O75251-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiNDUS7_HUMAN
AccessioniPrimary (citable) accession number: O75251
Secondary accession number(s): B3KRI2, Q2T9H7, Q9BV17
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: March 21, 2006
Last modified: May 23, 2018
This is version 179 of the entry and version 3 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. Human chromosome 19
    Human chromosome 19: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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