Gene Gene information from NCBI Gene database.
Entrez ID 9391
Gene name Cytosolic iron-sulfur assembly component 1
Gene symbol CIAO1
Synonyms (NCBI Gene)
CIA1MMDS10WDR39
Chromosome 2
Chromosome location 2q11.2
miRNA miRNA information provided by mirtarbase database.
856
miRTarBase ID miRNA Experiments Reference
MIRT005218 hsa-let-7b-5p pSILAC 18668040
MIRT021025 hsa-miR-155-5p Proteomics 18668040
MIRT030108 hsa-miR-26b-5p Microarray 19088304
MIRT005218 hsa-let-7b-5p Proteomics;Other 18668040
MIRT041394 hsa-miR-193b-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
WT1 Repression 9556563
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 21516116, 23585563, 23891004, 24245804, 24981860, 25416956, 28178521, 28514442, 32222833, 32296183, 33961781
GO:0005737 Component Cytoplasm IDA 23585563
GO:0005737 Component Cytoplasm IEA
GO:0006357 Process Regulation of transcription by RNA polymerase II TAS 9556563
GO:0007059 Process Chromosome segregation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604333 14280 ENSG00000144021
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O76071
Protein name Probable cytosolic iron-sulfur protein assembly protein CIAO1 (WD repeat-containing protein 39)
Protein 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). A
PDB 3FM0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 6 43 WD domain, G-beta repeat Repeat
PF00400 WD40 50 89 WD domain, G-beta repeat Repeat
PF00400 WD40 95 133 WD domain, G-beta repeat Repeat
PF00400 WD40 184 222 WD domain, G-beta repeat Repeat
PF00400 WD40 288 332 WD domain, G-beta repeat Repeat
Sequence
MKDSLVLLGRVPAHPDSRCWFLAWNPAGTLLASCGGDRRIRIWGTEGDSWICKSVLSEGH
QRTVRKVAWSPCGNYLASASFDATTCIWK
KNQDDFECVTTLEGHENEVKSVAWAPSGNLL
ATCSRDKSVWVWE
VDEEDEYECVSVLNSHTQDVKHVVWHPSQELLASASYDDTVKLYREE
EDDWVCCATLEGHESTVWSLAFDPSGQRLASCSDDRTVRIWRQYLPGNEQGVACSGSDPS
WKCICTLSGFHSRTIYDIAWCQLTGALATACGDDAIRVFQEDPNSDPQQPTFSLTAHLHQ
AHSQDVNCVAWNPKEPGLLASCSDDGEVAFWK
YQRPEGL
Sequence length 339
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEUROMUSCULAR DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 34569959
★☆☆☆☆
Found in Text Mining only
Dementia Associate 34569959
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 9556563
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 22430805
★☆☆☆☆
Found in Text Mining only