CIAO1
entrez
9391
canonical
uniprot
O76071
canonical
ensembl
ENSG00000144021
resolver
ensp
ENSP00000418287
resolver
enst
ENST00000488633
resolver
genesymbol
CIAO1
resolver
genesymbol_syn
CIA1
resolver
genesymbol_syn
WDR39
resolver
hgnc
HGNC:14280
resolver
uniprot
A0MNN9
resolver
uniprot
Q53FM5
resolver
uniprot_entry
CIAO1_HUMAN
resolver
uniprot_sec
A0MNN9
resolver
uniprot_sec
Q53FM5
resolver
amino_acid_sequence
MKDSLVLLGRVPAHPDSRCWFLAWNPAGTLLASCGGDRRIRIWGTEGDSWICKSVLSEGHQRTVRKVAWSPCGNYLASASFDATTCIWKKNQDDFECVTTLEGHENEVKSVAWAPSGNLLATCSRDKSVWVWEVDEEDEYECVSVLNSHTQDVKHVVWHPSQELLASASYDDTVKLYREEEDDWVCCATLEGHESTVWSLAFDPSGQRLASCSDDRTVRIWRQYLPGNEQGVACSGSDPSWKCICTLSGFHSRTIYDIAWCQLTGALATACGDDAIRVFQEDPNSDPQQPTFSLTAHLHQAHSQDVNCVAWNPKEPGLLASCSDDGEVAFWKYQRPEGL
uniprot
proteins
disease_involvement
DISEASE: Multiple mitochondrial dysfunctions syndrome 10 (MMDS10) [MIM:620960]: An autosomal recessive disorder characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. Additional features include learning difficulties and neurobehavioral comorbidities. Some affected individuals have mild normocytic to macrocytic anemia. Brain imaging shows increased iron deposition in deep brain nuclei in some patients. {ECO:0000269|PubMed:38950322}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins (PubMed:17937914, PubMed:23891004, PubMed:38950322). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (PubMed:23891004). Seems to specifically modulate the transactivation activity of WT1 (PubMed:9556563). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633). {ECO:0000255|HAMAP-Rule:MF_03037, ECO:0000269|PubMed:17937914, ECO:0000269|PubMed:20797633, ECO:0000269|PubMed:23891004, ECO:0000269|PubMed:38950322, ECO:0000269|PubMed:9556563}.
uniprot
proteins
mass_dalton
37840
uniprot
proteins
mutagenesis
MUTAGEN 87..89; /note="IWK->AAA: Does not affect binding to HSC20."; /evidence="ECO:0000269|PubMed:29309586"; MUTAGEN 176..178; /note="LYR->AAA: Abolishes binding to HSC20."; /evidence="ECO:0000269|PubMed:29309586
uniprot
proteins
protein_family
WD repeat CIA1 family
uniprot
proteins
pubmed
10438340
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17041588
uniprot
proteins
pubmed
17937914
uniprot
proteins
pubmed
20797633
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21468892
uniprot
proteins
pubmed
22678361
uniprot
proteins
pubmed
22678362
uniprot
proteins
pubmed
22683786
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23585563
uniprot
proteins
pubmed
23891004
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29309586
uniprot
proteins
pubmed
29320706
uniprot
proteins
pubmed
38950322
uniprot
proteins
pubmed
9556563
uniprot
proteins
sequence_length
339
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23585563}.
uniprot
proteins