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Details on Person UniProt:Q5T440 IBA57

Class:IdReferenceGeneProduct:220704
_chainChangeLogtransit peptide:1-39 added on Sat February 7 2015;chain:40-356 added on Sat February 7 2015
_displayNameUniProt:Q5T440 IBA57
_timestamp2025-08-15 21:59:14
chaintransit peptide:1-39
chain:40-356
checksum199A04DAB6840807
commentFUNCTION Mitochondrial protein involved in the maturation of mitochondrial [4Fe-4S]-proteins in the late stage of the iron-sulfur cluster assembly pathway (PubMed:22323289, PubMed:23462291). Operates in cooperation with ISCA2 in the maturation of [4Fe-4S] proteins (PubMed:30269484).FUNCTION Involved in the maturation of mitochondrial 2Fe-2S proteins in the late stage of the iron-sulfur cluster assembly pathway.SUBUNIT Monomer (PubMed:31831856). Heterotetramer; forms a dimer of dimers with ISCA2 (PubMed:31831856). Interacts with [2Fe-2S]-ISCA2 forming the heterodimer [2Fe- 2S]-ISCA2-IBA57 complex; [2Fe-2S] cluster binding is absolutely required to promote the complex formation (PubMed:30269484).INTERACTION Expressed in skin fibroblasts and skeletal muscle (at protein level).DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the GcvT family. CAF17/IBA57 subfamily.
created[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
descriptionrecommendedName: Iron-sulfur cluster assembly factor IBA57, mitochondrial alternativeName: Iron-sulfur cluster assembly factor homolog
geneNameIBA57
C1orf69
identifierQ5T440
isSequenceChangedFALSE
keyword3D-structure
Acetylation
Disease variant
Heme biosynthesis
Hereditary spastic paraplegia
Mitochondrion
Neurodegeneration
Primary mitochondrial disease
Proteomics identification
Reference proteome
Transit peptide
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
nameIBA57
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8987711] ENSEMBL:ENSG00000181873 IBA57 [Homo sapiens]
secondaryIdentifierCAF17_HUMAN
sequenceLength356
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:5691205] IBA57 [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q5T440 IBA57 (220704)