CIAO1
Probable cytosolic iron-sulfur protein assembly protein CIAO1
Also known as: CIA1, CIAO1_HUMAN, WDR39
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O76071
- Gene
- CIAO1
- Ensembl
- ENSG00000144021
- Chromosome
- 2
- Canonical length
- 339 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Cytosol
OverviewNCBI Gene
Involved in protein maturation. Located in cytoplasm. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
339 residues, UniProt reviewed canonical sequence.
>O76071|CIAO1
1 MKDSLVLLGR VPAHPDSRCW FLAWNPAGTL LASCGGDRRI RIWGTEGDSW ICKSVLSEGH
61 QRTVRKVAWS PCGNYLASAS FDATTCIWKK NQDDFECVTT LEGHENEVKS VAWAPSGNLL
121 ATCSRDKSVW VWEVDEEDEY ECVSVLNSHT QDVKHVVWHP SQELLASASY DDTVKLYREE
181 EDDWVCCATL EGHESTVWSL AFDPSGQRLA SCSDDRTVRI WRQYLPGNEQ GVACSGSDPS
241 WKCICTLSGF HSRTIYDIAW CQLTGALATA CGDDAIRVFQ EDPNSDPQQP TFSLTAHLHQ
301 AHSQDVNCVA WNPKEPGLLA SCSDDGEVAF WKYQRPEGLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CIAO1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.22
- Highest tissue expression
- 34 nTPM
Expression across tissuesHPA
Tissue
- parathyroid gland: 34 nTPM
- liver: 31 nTPM
- adrenal gland: 30 nTPM
- basal ganglia: 30 nTPM
- cerebral cortex: 29 nTPM
- skeletal muscle: 29 nTPM
Single-cell type
- tuft cells: 115 nCPM
- cytotrophoblasts: 105 nCPM
- esophageal basal cells: 97 nCPM
- migrating cytotrophoblasts: 93 nCPM
- extravillous trophoblasts: 87 nCPM
- esophageal apical cells: 85 nCPM
Immune cell
- eosinophil: 34 nTPM
- non-classical monocyte: 34 nTPM
- total PBMC: 33 nTPM
- MAIT T-cell: 32 nTPM
- basophil: 30 nTPM
- NK-cell: 30 nTPM
Brain region
- cerebellum: 39 nTPM
- white matter: 38 nTPM
- cerebral cortex: 37 nTPM
- spinal cord: 37 nTPM
- thalamus: 36 nTPM
- pons: 35 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CIAO1.
Disease | AllUniProt
Conditions CIAO1 is implicated in, by any mechanism.
- Multiple mitochondrial dysfunctions syndrome 10 (MMDS10) MIM:620960
Disease | GeneticClinVar
3 pathogenic / likely-pathogenic of 61 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Multiple mitochondrial dysfunctions syndrome 10
- Neuromuscular disease
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.76
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.12
- DepMap mean gene effect
- -1.21
- DepMap dependency class
- common
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 8% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- chromosome segregation
- iron-sulfur cluster assembly
- protein maturation
- regulation of transcription by RNA polymerase II
Cellular components
Protein domainsUniProt · Pfam · InterPro
- WD40 repeat
- WD40/YVTN repeat-like-containing domain superfamily
- WD40 repeat, conserved site
- WD40-repeat-containing domain superfamily
- WD domain, G-beta repeat
- Probable cytosolic iron-sulfur protein assembly protein, CIAO1/Cia1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CIAO1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CIAO1 as an antibody target. Whether an autoantibody or antibody against CIAO1 could matter depends on whether native CIAO1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CIAO1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CIAO1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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