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Details on Person UniProt:O75251-1 NDUFS7

Class:IdReferenceIsoform:8974789
_chainChangeLogtransit peptide:1-38 added on Fri February 17 2017;chain:39-213 added on Fri February 17 2017
_displayNameUniProt:O75251-1 NDUFS7
_timestamp2025-05-21 21:13:36
chaintransit peptide:1-38
chain:39-213
checksumB3547EA24643C1B0
commentFUNCTION Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:17275378). Essential for the catalytic activity of complex I (PubMed:17275378).CATALYTIC ACTIVITY a ubiquinone + NADH + 5 H(+)(in) = a ubiquinol + NAD(+) + 4 H(+)(out)COFACTOR Binds 1 [4Fe-4S] cluster.SUBUNIT Core subunit of respiratory chain NADH dehydrogenase (Complex I) which is composed of 45 different subunits (PubMed:12611891). This is a component of the iron-sulfur (IP) fragment of the enzyme (By similarity).INTERACTION Hydroxylated at Arg-111 by NDUFAF5 early in the pathway of assembly of complex I, before the formation of the juncture between peripheral and membrane arms.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the complex I 20 kDa subunit family.
created[InstanceEdit:8964659] Weiser, JD
descriptionrecommendedName: NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial ecNumber evidence="8"7.1.1.2 alternativeName: Complex I-20kD shortName: CI-20kD alternativeName: NADH-ubiquinone oxidoreductase 20 kDa subunit alternativeName: fullName evidence="11"PSST subunit
geneNameNDUFS7
identifierO75251
isoformParent
isSequenceChangedFALSE
keyword3D-structure
4Fe-4S
Alternative splicing
Disease variant
Electron transport
Hydroxylation
Iron
Iron-sulfur
Leigh syndrome
Membrane
Metal-binding
Mitochondrion
Mitochondrion inner membrane
NAD
Oxidoreductase
Primary mitochondrial disease
Proteomics identification
Reference proteome
Respiratory chain
Transit peptide
Translocase
Transport
Ubiquinone
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9939033] Weiser, Joel, 2025-02-21
[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
nameNDUFS7
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8993765] ENSEMBL:ENSG00000115286 NDUFS7 [Homo sapiens]
secondaryIdentifierNDUS7_HUMAN
B3KRI2
Q2T9H7
Q9BV17
sequenceLength213
species[Species:48887] Homo sapiens
variantIdentifierO75251-1
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No pathways have been reviewed or authored by UniProt:O75251-1 NDUFS7 (8974789)