IBA57
entrez
200205
canonical
uniprot
Q5T440
canonical
ensembl
ENSG00000181873
resolver
ensp
ENSP00000355672
resolver
enst
ENST00000366711
resolver
genesymbol
IBA57
resolver
genesymbol_syn
C1orf69
resolver
hgnc
HGNC:27302
resolver
uniprot
B4E1G9
resolver
uniprot_entry
B4E1G9_HUMAN
resolver
uniprot_entry
CAF17_HUMAN
resolver
amino_acid_sequence
MATAALLRGATPGRGGPVWRWRLRAAPRCRLAHSSCSPGGDPTAGAAWACFRLDGRTLLRVRGPDAAPFLLGLLTNELPLPSPAAAGAPPAARAGYAHFLNVQGRTLYDVILYGLQEHSEVSGFLLECDSSVQGALQKHLALYRIRRKVTVEPHPELRVWAVLPSSPEACGAASLQERAGAAAILIRDPRTARMGWRLLTQDEGPALVPGGRLGDLWDYHQHRYLQGVPEGVRDLPPGVALPLESNLAFMNGVSFTKGCYIGQELTARTHHMGVIRKRLFPVRFLDPLPTSGITPGATVLTASGQTVGKFRAGQGNVGLALLWSEKIKGPLHIRASEGAQVALAASVPDWWPTVSK
uniprot
proteins
disease_involvement
DISEASE: Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330]: A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes. {ECO:0000269|PubMed:23462291}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Spastic paraplegia 74, autosomal recessive (SPG74) [MIM:616451]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG74 is characterized by a combination of spastic paraplegia, optic atrophy, and peripheral neuropathy with childhood-onset and slow progression into late adulthood. {ECO:0000269|PubMed:25609768}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:22323289, ECO:0000269|PubMed:23462291, ECO:0000269|PubMed:30269484}.; FUNCTION: Involved in the maturation of mitochondrial 2Fe-2S proteins in the late stage of the iron-sulfur cluster assembly pathway. {ECO:0000269|PubMed:23462291}.
uniprot
proteins
mass_dalton
38155
uniprot
proteins
mutagenesis
MUTAGEN 146; /note="R->A: Abolishes interaction with ISCA2."; /evidence="ECO:0000269|PubMed:31831856"; MUTAGEN 259; /note="C->A: Abolishes the formation of the [2Fe-2S] ISCA2-IBA57 complex formation."; /evidence="ECO:0000269|PubMed:30269484
uniprot
proteins
protein_family
CAF17/IBA57 subfamily
uniprot
proteins
protein_family
GcvT family
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22323289
uniprot
proteins
pubmed
23462291
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25609768
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
30269484
uniprot
proteins
pubmed
30950402
uniprot
proteins
pubmed
31831856
uniprot
proteins
sequence_length
356
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:22323289, ECO:0000269|PubMed:23462291}.
uniprot
proteins