CIAO3 (cytosolic iron-sulfur assembly component 3)

Gene

• Entrez ID: 64428
• Gene name: Cytosolic iron-sulfur assembly component 3
• Gene symbol: CIAO3
• Synonyms (NCBI Gene): HPRN, IOP1, LET1L, NAR1, NARFL, PRN
• Chromosome: 16
• Chromosome location: 16p13.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	16956324
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0005515	Function	Protein binding	IPI	23585563
GO:0010468	Process	Regulation of gene expression	IDA	16956324
GO:0016226	Process	Iron-sulfur cluster assembly	IEA
GO:0016226	Process	Iron-sulfur cluster assembly	IMP	18270200
GO:0032364	Process	Intracellular oxygen homeostasis	IDA	16956324
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0097361	Component	Cytosolic [4Fe-4S] assembly targeting complex	IBA
GO:0097361	Component	Cytosolic [4Fe-4S] assembly targeting complex	IDA	22678361, 22678362, 23585563

Other IDs

• MIM: 611118
• HGNC: 14179
• e!Ensembl: ENSG00000103245

Protein

• UniProt ID: Q9H6Q4
• Protein name: Cytosolic iron-sulfur assembly component 3 (Cytosolic Fe-S cluster assembly factor NARFL) (Iron-only hydrogenase-like protein 1) (IOP1) (Nuclear prelamin A recognition factor-like protein) (Protein related to Narf)
• Protein function: 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. Seems to negatively regulate the level of HIF1A expressio
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02906	Fe_hyd_lg_C	110 → 403	Iron only hydrogenase large subunit, C-terminal domain	Domain
  PF02256	Fe_hyd_SSU	414 → 465	Iron hydrogenase small subunit	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16956324}.
• Sequence:

  MASPFSGALQLTDLDDFIGPSQECIKPVKVEKRAGSGVAKIRIEDDGSYFQINQDGGTRR
  LEKAKVSLNDCLACSGCITSAETVLITQQSHEELKKVLDANKMAAPSQQRLVVVSVSPQS
  RASLAARFQLNPTDTARKLTSFFKKIGVHFVFDTAFSRHFSLLESQREFVRRFRGQADCR
  QALPLLASACPGWICYAEKTHGSFILPHISTARSPQQVMGSLVKDFFAQQQHLTPDKIYH
  VTVMPCYDKKLEASRPDFFNQEHQTRDVDCVLTTGEVFRLLEEEGVSLPDLEPAPLDSLC
  SGASAEEPTSHRGGGSGGYLEHVFRHAARELFGIHVAEVTYKPLRNKDFQEVTLEKEGQV
  LLHFAMAYGFRNIQNLVQRLKRGRCPYHYVEVMACPSGCLNGGGQLQAPDRPSRELLQHV
  ERLYGMVRAEAPEDAPGVQELYTHWLQGTDSECAGRLLHTQYHAVEKASTGLGIRW

• Sequence length: 476

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arteriovenous malformation	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	28449645, 28779006		★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	28333942		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31556667		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31556667		★☆☆☆☆ Found in Text Mining only
Capillary malformation (disorder)	Capillary malformation	BEFREE	27835862		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30059515		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31556667		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	27646337, 28779006		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	28333942		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29099960		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28779006		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30059515		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31556667		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25081482	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30059515		★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	28333942		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30907188		★☆☆☆☆ Found in Text Mining only