ISCA1
entrez
81689
canonical
uniprot
Q9BUE6
canonical
ensembl
ENSG00000135070
resolver
ensp
ENSP00000365159
resolver
genesymbol
ISCA1
resolver
genesymbol_syn
HBLD2
resolver
hgnc
HGNC:28660
resolver
uniprot
B3KP34
resolver
uniprot
B4DJI5
resolver
uniprot
Q8ND75
resolver
uniprot
Q9BZR2
resolver
uniprot_entry
ISCA1_HUMAN
resolver
uniprot_sec
B3KP34
resolver
uniprot_sec
B4DJI5
resolver
uniprot_sec
Q8ND75
resolver
uniprot_sec
Q9BZR2
resolver
amino_acid_sequence
MSASLVRATVRAVSKRKLQPTRAALTLTPSAVNKIKQLLKDKPEHVGVKVGVRTRGCNGLSYTLEYTKTKGDSDEEVIQDGVRVFIEKKAQLTLLGTEMDYVEDKLSSEFVFNNPNIKGTCGCGESFNI
uniprot
proteins
disease_involvement
DISEASE: Multiple mitochondrial dysfunctions syndrome 5 (MMDS5) [MIM:617613]: 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. {ECO:0000269|PubMed:28356563}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. Probably involved in the binding of an intermediate of Fe/S cluster assembly. {ECO:0000269|PubMed:15262227, ECO:0000269|PubMed:22323289}.
uniprot
proteins
mass_dalton
14179
uniprot
proteins
protein_family
HesB/IscA family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15262227
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
22323289
uniprot
proteins
pubmed
26569474
uniprot
proteins
pubmed
28356563
uniprot
proteins
sequence_length
129
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:15262227, ECO:0000269|PubMed:22323289}.
uniprot
proteins