Entity Details

Primary name ISCU_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H1K1
EntryNameISCU_HUMAN
FullNameIron-sulfur cluster assembly enzyme ISCU, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length167
SequenceStatuscomplete
DateCreated2005-04-26
DateModified2021-06-02

Ontological Relatives

GenesISCU

GO terms

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GOName
GO:0005506 iron ion binding
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006879 cellular iron ion homeostasis
GO:0008198 ferrous iron binding
GO:0016226 iron-sulfur cluster assembly
GO:0051537 2 iron, 2 sulfur cluster binding
GO:0051539 4 iron, 4 sulfur cluster binding
GO:0060090 molecular adaptor activity
GO:1902958 positive regulation of mitochondrial electron transport, NADH to ubiquinone
GO:1904234 positive regulation of aconitate hydratase activity
GO:1904439 negative regulation of iron ion import across plasma membrane

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion
Nucleus

Domains

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DomainNameCategoryType
IPR002871 NIF system FeS cluster assembly, NifU, N-terminalDomainDomain
IPR011339 ISC system FeS cluster assembly, IscU scaffoldFamilyFamily

Diseases

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Disease IDSourceNameDescription
255125 OMIMMyopathy with exercise intolerance Swedish type (MEIS)Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism. The disease is caused by variants affecting the gene represented in this entry.