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Aliases for CIAO1 Gene

Aliases for CIAO1 Gene

  • Cytosolic Iron-Sulfur Assembly Component 1 2 3 5
  • WD Repeat-Containing Protein 39 3 4
  • WD Repeat Domain 39 2 3
  • WDR39 3 4
  • Cytosolic Iron-Sulfur Protein Assembly 1 Homolog (S. Cerevisiae) 2
  • Probable Cytosolic Iron-Sulfur Protein Assembly Protein CIAO1 3
  • Cytosolic Iron-Sulfur Protein Assembly 1 Homolog 3
  • Cytosolic Iron-Sulfur Protein Assembly 1 2
  • WD40 Protein Ciao1 3
  • CIA1 3

External Ids for CIAO1 Gene

Previous HGNC Symbols for CIAO1 Gene

  • WDR39

Previous GeneCards Identifiers for CIAO1 Gene

  • GC02P094803
  • GC02P095386
  • GC02P096399
  • GC02P096416
  • GC02P096353
  • GC02P096931
  • GC02P090893

Summaries for CIAO1 Gene

GeneCards Summary for CIAO1 Gene

CIAO1 (Cytosolic Iron-Sulfur Assembly Component 1) is a Protein Coding gene. Among its related pathways are Metabolism and Cytosolic iron-sulfur cluster assembly. An important paralog of this gene is WSB2.

UniProtKB/Swiss-Prot for CIAO1 Gene

  • 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. Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation.

Gene Wiki entry for CIAO1 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CIAO1 Gene

Genomics for CIAO1 Gene

Regulatory Elements for CIAO1 Gene

Enhancers for CIAO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F096255 2.2 VISTA FANTOM5 Ensembl ENCODE 18.6 -6.9 -6859 7.2 PKNOX1 ARNT MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 DUSP2 CIAO1 STARD7-AS1 STARD7 NCAPH ASTL ITPRIPL1 LOC105373495 SNRNP200 TMEM127
GH02F096334 1.1 ENCODE 20.5 +69.9 69853 2.7 HDGF ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF207 SP3 CIAO1 ITPRIPL1 SNRNP200 STARD7-AS1 NCAPH PIR33612
GH02F096304 1.1 ENCODE 17.4 +39.5 39507 2.4 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CIAO1 LMAN2L NCAPH ASTL DUSP2 SNRNP200 LOC105373495
GH02F096340 1.2 Ensembl ENCODE 14.6 +76.6 76569 5.1 HDGF ATF1 ARNT WRNIP1 ZNF121 GATA2 FOS JUNB TBX21 SMARCA4 CIAO1 SNRNP200 LOC105373495 ASTL NCAPH PIR33612
GH02F096263 1.1 ENCODE 15.8 -0.3 -272 3.8 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 SNRNP200 CIAO1 LMAN2L ITPRIPL1 LOC105373495 NCAPH ASTL DUSP2 KCNIP3 TMEM127
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CIAO1 on UCSC Golden Path with GeneCards custom track

Promoters for CIAO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014687 -232 2601 HDGF PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for CIAO1 Gene

Chromosome:
2
Start:
96,266,132 bp from pter
End:
96,274,179 bp from pter
Size:
8,048 bases
Orientation:
Plus strand

Genomic View for CIAO1 Gene

Genes around CIAO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CIAO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CIAO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CIAO1 Gene

Proteins for CIAO1 Gene

  • Protein details for CIAO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76071-CIAO1_HUMAN
    Recommended name:
    Probable cytosolic iron-sulfur protein assembly protein CIAO1
    Protein Accession:
    O76071
    Secondary Accessions:
    • A0MNN9
    • Q53FM5

    Protein attributes for CIAO1 Gene

    Size:
    339 amino acids
    Molecular mass:
    37840 Da
    Quaternary structure:
    • Component of the CIA complex. Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with WT1. Interacts with FAM96A.
    Miscellaneous:
    • Ciao means bridge in Chinese.

    Three dimensional structures from OCA and Proteopedia for CIAO1 Gene

neXtProt entry for CIAO1 Gene

Post-translational modifications for CIAO1 Gene

  • Ubiquitination at Lys 2 and Lys 53
  • Modification sites at PhosphoSitePlus

Other Protein References for CIAO1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CIAO1 Gene

Domains & Families for CIAO1 Gene

Suggested Antigen Peptide Sequences for CIAO1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O76071

UniProtKB/Swiss-Prot:

CIAO1_HUMAN :
  • Belongs to the WD repeat CIA1 family.
  • Contains 7 WD repeats.
Family:
  • Belongs to the WD repeat CIA1 family.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with CIAO1: view

Function for CIAO1 Gene

Molecular function for CIAO1 Gene

GENATLAS Biochemistry:
functional modulator of the transcriptional activation function Wilms tumor suppressor gene (WT1),ubiquitously expressed,evolutionarily conserved
UniProtKB/Swiss-Prot 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. Seems to specifically modulate the transactivation activity of WT1. As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation.

Gene Ontology (GO) - Molecular Function for CIAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with CIAO1: view
genes like me logo Genes that share phenotypes with CIAO1: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CIAO1

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CIAO1 Gene

Localization for CIAO1 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 CIAO1 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
golgi apparatus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CIAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071817 MMXD complex IEA,IDA 20797633
GO:0097361 CIA complex IEA,IDA 22678361
genes like me logo Genes that share ontologies with CIAO1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CIAO1 Gene

Pathways & Interactions for CIAO1 Gene

genes like me logo Genes that share pathways with CIAO1: view

Pathways by source for CIAO1 Gene

1 Cell Signaling Technology pathway for CIAO1 Gene
2 Reactome pathways for CIAO1 Gene

Gene Ontology (GO) - Biological Process for CIAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter TAS 9556563
GO:0007059 chromosome segregation IEA --
GO:0008284 positive regulation of cell proliferation TAS 9556563
GO:0016226 iron-sulfur cluster assembly IGI 17937914
genes like me logo Genes that share ontologies with CIAO1: view

No data available for SIGNOR curated interactions for CIAO1 Gene

Transcripts for CIAO1 Gene

Unigene Clusters for CIAO1 Gene

Cytosolic iron-sulfur protein assembly 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CIAO1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CIAO1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1: - - -
SP2: - -
SP3: - - - - -
SP4: - -
SP5:
SP6: -
SP7:

Relevant External Links for CIAO1 Gene

GeneLoc Exon Structure for
CIAO1
ECgene alternative splicing isoforms for
CIAO1

Expression for CIAO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CIAO1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CIAO1 Gene

This gene is overexpressed in Bone (33.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CIAO1 Gene



Protein tissue co-expression partners for CIAO1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CIAO1 Gene:

CIAO1

SOURCE GeneReport for Unigene cluster for CIAO1 Gene:

Hs.12109
genes like me logo Genes that share expression patterns with CIAO1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CIAO1 Gene

Orthologs for CIAO1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CIAO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CIAO1 34 35
  • 100 (n)
oppossum
(Monodelphis domestica)
Mammalia CIAO1 35
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CIAO1 35
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CIAO1 34 35
  • 92.53 (n)
cow
(Bos Taurus)
Mammalia CIAO1 34 35
  • 89.48 (n)
mouse
(Mus musculus)
Mammalia Ciao1 34 16 35
  • 89.09 (n)
rat
(Rattus norvegicus)
Mammalia Ciao1 34
  • 89.09 (n)
chicken
(Gallus gallus)
Aves CIAO1 34 35
  • 77.4 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ciao1 34
  • 75.08 (n)
zebrafish
(Danio rerio)
Actinopterygii ciao1 34 35
  • 72.46 (n)
zgc55911 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9607 34
African malaria mosquito
(Anopheles gambiae)
Insecta CIAO1_ANOGA 34
  • 62.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ciao1 34 35
  • 60.86 (n)
CG12797 36
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y18D10A.9 34
  • 49.35 (n)
Y18D10A.9 36 35
  • 37 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR091W 34
  • 51.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIA1 34 35
  • 50.34 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21781g 34
  • 49.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1345 34
  • 54.72 (n)
rice
(Oryza sativa)
Liliopsida Os07g0252000 34
  • 55.66 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6887 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 54 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU05426 34
  • 52.55 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13187 34
Species where no ortholog for CIAO1 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 CIAO1 Gene

ENSEMBL:
Gene Tree for CIAO1 (if available)
TreeFam:
Gene Tree for CIAO1 (if available)

Paralogs for CIAO1 Gene

Paralogs for CIAO1 Gene

(3) SIMAP similar genes for CIAO1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CIAO1: view

Variants for CIAO1 Gene

Sequence variations from dbSNP and Humsavar for CIAO1 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121908813 Likely pathogenic 96,265,399(-) AGCGA(C/T)GGCGG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs121908814 Likely pathogenic 96,265,379(-) GGCAT(G/T)TACGC intron-variant, upstream-variant-2KB, reference, missense
rs121908815 Likely pathogenic 96,265,306(-) CCAAG(C/T)AGCCG intron-variant, upstream-variant-2KB, reference, stop-gained
rs121908816 Likely pathogenic 96,265,263(-) CGCCC(-/TGTC)TATCA intron-variant, upstream-variant-2KB, reference, frameshift-variant
rs121908817 Likely pathogenic 96,265,232(-) GCCGA(-/A)GCCCG intron-variant, upstream-variant-2KB, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for CIAO1 Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591652 OTHER inversion 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv508155 CNV deletion 20534489
nsv834305 CNV gain 17160897

Variation tolerance for CIAO1 Gene

Residual Variation Intolerance Score: 69.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CIAO1 Gene

Human Gene Mutation Database (HGMD)
CIAO1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CIAO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CIAO1 Gene

Disorders for CIAO1 Gene

Relevant External Links for CIAO1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CIAO1

No disorders were found for CIAO1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CIAO1 Gene

Publications for CIAO1 Gene

  1. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PMID: 10493829) Loftus B.J. … Adams M.D. (Genomics 1999) 2 3 4 64
  2. Ciao 1 is a novel WD40 protein that interacts with the tumor suppressor protein WT1. (PMID: 9556563) Johnstone R.W. … Shi Y. (J. Biol. Chem. 1998) 2 3 4 64
  3. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. (PMID: 22678361) Gari K. … Boulton S.J. (Science 2012) 3 4 64
  4. MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PMID: 22678362) Stehling O. … Lill R. (Science 2012) 3 4 64
  5. MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation. (PMID: 20797633) Ito S. … Tanaka K. (Mol. Cell 2010) 3 4 64

Products for CIAO1 Gene

Sources for CIAO1 Gene

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