Aliases for CIAO3 Gene

Aliases for CIAO3 Gene

  • Cytosolic Iron-Sulfur Assembly Component 3 2 3 4 5
  • Iron-Only Hydrogenase-Like Protein 1 2 3 4
  • IOP1 2 3 4
  • PRN 2 3 4
  • Cytosolic Fe-S Cluster Assembly Factor NARFL 3 4
  • Nuclear Prelamin A Recognition Factor Like 2 3
  • Protein Related To Narf 3 4
  • NARFL 3 4
  • HPRN 2 3
  • NAR1 2 3
  • Nuclear Prelamin A Recognition Factor-Like Protein 4
  • Nuclear Prelamin A Recognition Factor-Like 2
  • LET1 Like/JFP15 3
  • FLJ21988 2
  • LET1L 3
  • CIAO3 5

External Ids for CIAO3 Gene

Previous HGNC Symbols for CIAO3 Gene

  • NARFL

Previous GeneCards Identifiers for CIAO3 Gene

  • GC16M001002
  • GC16M001022
  • GC16M001037
  • GC16M001093
  • GC16M000964
  • GC16M000985

Summaries for CIAO3 Gene

GeneCards Summary for CIAO3 Gene

CIAO3 (Cytosolic Iron-Sulfur Assembly Component 3) is a Protein Coding gene. Diseases associated with CIAO3 include Ocular Hyperemia and Acute Closed-Angle Glaucoma. Among its related pathways are Metabolism and Cytosolic iron-sulfur cluster assembly. An important paralog of this gene is NARF.

UniProtKB/Swiss-Prot Summary for CIAO3 Gene

  • 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 expression, although this effect could be indirect.

Additional gene information for CIAO3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CIAO3 Gene

Genomics for CIAO3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CIAO3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CIAO3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CIAO3

Genomic Locations for CIAO3 Gene

Genomic Locations for CIAO3 Gene
chr16:729,760-741,329
(GRCh38/hg38)
Size:
11,570 bases
Orientation:
Minus strand
chr16:779,753-791,329
(GRCh37/hg19)
Size:
11,577 bases
Orientation:
Minus strand

Genomic View for CIAO3 Gene

Genes around CIAO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIAO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIAO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CIAO3 Gene

Proteins for CIAO3 Gene

  • Protein details for CIAO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6Q4-CIAO3_HUMAN
    Recommended name:
    Cytosolic iron-sulfur assembly component 3
    Protein Accession:
    Q9H6Q4
    Secondary Accessions:
    • A1L385
    • B3KTJ3
    • Q53GC6
    • Q96S10
    • Q9H6J8

    Protein attributes for CIAO3 Gene

    Size:
    476 amino acids
    Molecular mass:
    53020 Da
    Quaternary structure:
    • External component of the CIA complex (PubMed:22678361, PubMed:22678362, PubMed:23585563). In the CIA complex, interacts directly with CIAO1 and MMS19 (PubMed:23585563).
    SequenceCaution:
    • Sequence=AAK61251.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for CIAO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CIAO3 Gene

Post-translational modifications for CIAO3 Gene

  • Ubiquitination at Lys342
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CIAO3 Gene

Domains & Families for CIAO3 Gene

Gene Families for CIAO3 Gene

Protein Domains for CIAO3 Gene

InterPro:
Blocks:
  • Hydrogenase large subunit, C-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for CIAO3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59849, highly similar to Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA (B4DEE7_HUMAN)
  • Protein related to Narf (NARFL_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H6Q4

UniProtKB/Swiss-Prot:

CIAO3_HUMAN :
  • Belongs to the NARF family.
Family:
  • Belongs to the NARF family.
genes like me logo Genes that share domains with CIAO3: view

Function for CIAO3 Gene

Molecular function for CIAO3 Gene

UniProtKB/Swiss-Prot 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 expression, although this effect could be indirect.

Phenotypes From GWAS Catalog for CIAO3 Gene

Gene Ontology (GO) - Molecular Function for CIAO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23585563
GO:0046872 metal ion binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051539 4 iron, 4 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with CIAO3: view
genes like me logo Genes that share phenotypes with CIAO3: view

Animal Models for CIAO3 Gene

MGI Knock Outs for CIAO3:

Animal Model Products

  • Taconic Biosciences Mouse Models for CIAO3

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIAO3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CIAO3 Gene

Localization for CIAO3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CIAO3 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 2
mitochondrion 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CIAO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0097361 CIA complex IBA,IDA 22678361
genes like me logo Genes that share ontologies with CIAO3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CIAO3 Gene

Pathways & Interactions for CIAO3 Gene

PathCards logo

SuperPathways for CIAO3 Gene

genes like me logo Genes that share pathways with CIAO3: view

Pathways by source for CIAO3 Gene

2 Reactome pathways for CIAO3 Gene

Gene Ontology (GO) - Biological Process for CIAO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IDA 16956324
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0010468 regulation of gene expression IDA 16956324
GO:0016226 iron-sulfur cluster assembly IBA,IMP 18270200
GO:0032364 oxygen homeostasis IDA 16956324
genes like me logo Genes that share ontologies with CIAO3: view

No data available for SIGNOR curated interactions for CIAO3 Gene

Drugs & Compounds for CIAO3 Gene

No Compound Related Data Available

Transcripts for CIAO3 Gene

mRNA/cDNA for CIAO3 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIAO3

Alternative Splicing Database (ASD) splice patterns (SP) for CIAO3 Gene

No ASD Table

Relevant External Links for CIAO3 Gene

GeneLoc Exon Structure for
CIAO3

Expression for CIAO3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CIAO3

mRNA Expression by UniProt/SwissProt for CIAO3 Gene:

Q9H6Q4-CIAO3_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for CIAO3 Gene

  • Nervous system(4.9)
  • Intestine(4.3)
  • Skin(2.4)
  • Eye(2.2)
  • Muscle(2)

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CIAO3 Gene

Orthologs for CIAO3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CIAO3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NARFL 30 31
  • 99.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NARFL 30 31
  • 84.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NARFL 30 31
  • 83.82 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Narfl 30
  • 83.68 (n)
Mouse
(Mus musculus)
Mammalia Narfl 30 31
  • 83.33 (n)
OneToOne
Ciao3 17
Oppossum
(Monodelphis domestica)
Mammalia NARFL 31
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NARFL 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NARFL 30 31
  • 70.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NARFL 31
  • 57 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia narfl 30
  • 71.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii narfl 30 31
  • 65.97 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta NARF_ANOGA 30
  • 59.24 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG17683 30 31
  • 53.78 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea oxy-4 31
  • 36 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NAR1 31 33
  • 31 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G16440 30
  • 51.42 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0748700 30
  • 52.33 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 52 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.1190 30
Species where no ortholog for CIAO3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CIAO3 Gene

ENSEMBL:
Gene Tree for CIAO3 (if available)
TreeFam:
Gene Tree for CIAO3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CIAO3: view image

Paralogs for CIAO3 Gene

Paralogs for CIAO3 Gene

genes like me logo Genes that share paralogs with CIAO3: view

Variants for CIAO3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CIAO3 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
714677 Benign: not provided 739,693(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
717459 Benign: not provided 730,664(-) G/A INTRON_VARIANT
718886 Likely Benign: not provided 730,575(-) C/T MISSENSE_VARIANT
721907 Likely Benign: not provided 737,218(-) C/T MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
723437 Likely Benign: not provided 730,545(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CIAO3 Gene

Structural Variations from Database of Genomic Variants (DGV) for CIAO3 Gene

Variant ID Type Subtype PubMed ID
dgv4825n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1160325 CNV duplication 26073780
nsv1160326 CNV duplication 26073780
nsv457311 CNV loss 19166990
nsv471063 CNV loss 18288195
nsv471065 CNV gain 18288195
nsv516590 CNV loss 19592680
nsv526903 CNV loss 19592680
nsv571012 CNV loss 21841781
nsv9321 CNV gain+loss 18304495
nsv952898 CNV deletion 24416366

Variation tolerance for CIAO3 Gene

Residual Variation Intolerance Score: 94.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.28; 53.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CIAO3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIAO3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIAO3 Gene

Disorders for CIAO3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CIAO3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ocular hyperemia
  • hyperemia eye
acute closed-angle glaucoma
  • acute angle-closure glaucoma
neovascular glaucoma
  • secondary angle-closure glaucoma with rubeosis
- elite association - COSMIC cancer census association via MalaCards
Search CIAO3 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with CIAO3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CIAO3 Gene

Publications for CIAO3 Gene

  1. IOP1, a novel hydrogenase-like protein that modulates hypoxia-inducible factor-1alpha activity. (PMID: 16956324) Huang J … Lee FS (The Biochemical journal 2007) 2 3 4
  2. IOP1 protein is an external component of the human cytosolic iron-sulfur cluster assembly (CIA) machinery and functions in the MMS19 protein-dependent CIA pathway. (PMID: 23585563) Seki M … Tanaka K (The Journal of biological chemistry 2013) 3 4
  3. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. (PMID: 22678361) Gari K … Boulton SJ (Science (New York, N.Y.) 2012) 3 4
  4. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PMID: 22678362) Stehling O … Lill R (Science (New York, N.Y.) 2012) 3 4
  5. Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis. (PMID: 19864422) Song D … Lee FS (The Journal of biological chemistry 2009) 3 23

Products for CIAO3 Gene

Sources for CIAO3 Gene