Entity Details

Primary name ISCA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BUE6
EntryNameISCA1_HUMAN
FullNameIron-sulfur cluster assembly 1 homolog, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length129
SequenceStatuscomplete
DateCreated2005-11-08
DateModified2021-06-02

Ontological Relatives

GenesISCA1

GO terms

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GOName
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0016226 iron-sulfur cluster assembly
GO:0046872 metal ion binding
GO:0051537 2 iron, 2 sulfur cluster binding
GO:0097428 protein maturation by iron-sulfur cluster transfer

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR000361 FeS cluster biogenesisDomainDomain
IPR016092 FeS cluster insertion proteinFamilyFamily
IPR017870 FeS cluster insertion, C-terminal, conserved siteSiteConserved site
IPR035903 HesB-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
617613 OMIMMultiple mitochondrial dysfunctions syndrome 5 (MMDS5)An autosomal recessive, severe disorder characterized by early onset neurological deterioration, seizures, cerebral and cerebellar leukodystrophy, dysmyelination, cortical migrational abnormalities, lactic acidosis and early demise. The disease is caused by variants affecting the gene represented in this entry.

Interactions

0 interactions

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