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Details on Person UniProt:O75251 NDUFS7

Class:IdReferenceGeneProduct:60610
_chainChangeLogtransit peptide:1-38 added on Fri February 6 2015;chain:39-213 added on Fri February 6 2015
_displayNameUniProt:O75251 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.
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
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
(isoformParent)[ReferenceIsoform:8974789] UniProt:O75251-1 NDUFS7 [Homo sapiens]
[ReferenceIsoform:8974790] UniProt:O75251-2 NDUFS7 [Homo sapiens]
(referenceEntity)[EntityWithAccessionedSequence:163945] NDUFS7 [mitochondrial inner membrane] [Homo sapiens]
[EntityWithAccessionedSequence:6788521] NDUFS7 [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:O75251 NDUFS7 (60610)