CIAO1

Chr 2q11.2

cytosolic iron-sulfur assembly component 1

Aliases:: CIA1
MANE:: ENST00000488633.2

OMIM: 604333 ↗NCBI: 9391 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CIAO1 · O76071

v62025-08-01

Predicted Aligned Error matrix for CIAO1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.7/ 100

Very high

339 residues

Confidence breakdown

Very high(≥ 90)95%
Confident(70–90)4%
Low(50–70)1%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Congenital muscular dystrophy
BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomal
Congenital myaesthenic syndrome
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

multiple mitochondrial dysfunctions syndrome 10
0.66
neuromuscular disease
0.30
urinary bladder carcinoma
0.15
hepatocellular carcinoma
0.15
Abnormality of the skeletal system
0.08
gastric cancer
0.06
prostate carcinoma
0.05
Familial prostate cancer
0.05
prostate cancer
0.05
neoplasm
0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Probable cytosolic iron-sulfur protein assembly protein CIAO1

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)