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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. Diseases associated with CIAO1 include Hereditary Paraganglioma-Pheochromocytoma Syndromes and Retinitis Pigmentosa. Among its related pathways are Metabolism and Glucose / Energy Metabolism. 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

Additional gene information for CIAO1 Gene

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

Genomics for CIAO1 Gene

GeneHancer (GH) Regulatory Elements for CIAO1 Gene

Promoters and enhancers for CIAO1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J096263 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 665.8 -0.3 -272 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 CIAO1 TMEM127 SNRNP200 KANSL3 ANKRD36 ITPRIPL1 ENSG00000230747 CNNM3 NCAPH ASTL
GH02J096206 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 656.4 -57.4 -57394 3.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B STARD7-AS1 CIAO1 STARD7 KANSL3 SNRNP200 ANKRD36 LMAN2L CNNM3 SEMA4C GPAT2
GH02J096267 Enhancer 0.2 ENCODE 650.7 +1.7 1686 0.2 TMEM127 CIAO1 SNRNP200 ENSG00000230747 ITPRIPL1 NCAPH ASTL DUSP2
GH02J096334 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 28.7 +69.9 69853 2.7 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 POLR2B ZNF207 NCAPH SNRNP200 CIAO1 KANSL3 STARD7-AS1 ITPRIPL1 CNNM3 PIR33612
GH02J096304 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25.5 +39.5 39507 2.4 HDGF PKNOX1 SMAD1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SNRNP200 CIAO1 KANSL3 NCAPH STARD7-AS1 DUSP2 ASTL ENSG00000230747
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CIAO1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CIAO1 gene promoter:

Genomic Locations for CIAO1 Gene

Genomic Locations for CIAO1 Gene
chr2:96,266,132-96,274,179
(GRCh38/hg38)
Size:
8,048 bases
Orientation:
Plus strand
chr2:96,931,870-96,939,917
(GRCh37/hg19)

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 posLast=5353 and posLast=22
  • 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

Gene 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.
Family:
  • Belongs to the WD repeat CIA1 family.
genes like me logo Genes that share domains with CIAO1: view

Function for CIAO1 Gene

Molecular function for CIAO1 Gene

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.
GENATLAS Biochemistry:
functional modulator of the transcriptional activation function Wilms tumor suppressor gene (WT1),ubiquitously expressed,evolutionarily conserved

Phenotypes From GWAS Catalog for CIAO1 Gene

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

miRNA for CIAO1 Gene

miRTarBase miRNAs that target CIAO1

Clone Products

  • Addgene plasmids for CIAO1

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

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CIAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071817 MMXD complex IDA 20797633
GO:0097361 CIA complex 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

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

Gene Ontology (GO) - Biological Process for CIAO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II 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

Drugs & Compounds for CIAO1 Gene

No Compound Related Data Available

Transcripts for CIAO1 Gene

mRNA/cDNA for CIAO1 Gene

Unigene Clusters for CIAO1 Gene

Cytosolic iron-sulfur protein assembly 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for CIAO1

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 CGAP 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, 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

Evidence on tissue expression from TISSUES for CIAO1 Gene

  • Skin(4.5)
  • Stomach(4.3)
  • Nervous system(4.3)
  • Liver(4.2)
  • Blood(4.1)
  • Spleen(2.3)
  • Lung(2)
genes like me logo Genes that share expression patterns with CIAO1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 100 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CIAO1 34
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CIAO1 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CIAO1 34 33
  • 92.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CIAO1 34 33
  • 89.48 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ciao1 16 34 33
  • 89.09 (n)
rat
(Rattus norvegicus)
Mammalia Ciao1 33
  • 89.09 (n)
chicken
(Gallus gallus)
Aves CIAO1 34 33
  • 77.4 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ciao1 33
  • 75.08 (n)
zebrafish
(Danio rerio)
Actinopterygii ciao1 34 33
  • 72.46 (n)
OneToOne
zgc55911 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9607 33
African malaria mosquito
(Anopheles gambiae)
Insecta CIAO1_ANOGA 33
  • 62.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ciao1 34 33
  • 60.86 (n)
OneToOne
CG12797 35
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_Y18D10A.9 33
  • 49.35 (n)
Y18D10A.9 34 35
  • 38 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR091W 33
  • 51.01 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CIA1 34 33
  • 50.34 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E21781g 33
  • 49.47 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons emb1345 33
  • 54.72 (n)
rice
(Oryza sativa)
Liliopsida Os07g0252000 33
  • 55.66 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.6887 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 54 (a)
OneToOne
Cin.13187 33
bread mold
(Neurospora crassa)
Ascomycetes NCU05426 33
  • 52.55 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13187 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for CIAO1: view image

Paralogs for CIAO1 Gene

Paralogs for CIAO1 Gene

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

  • CIAO1_HUMAN
  • B2RDJ6_HUMAN
  • B4DRZ6_HUMAN
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 Variation AA Info Type
rs1060500599 uncertain-significance, Hereditary Paraganglioma-Pheochromocytoma Syndromes 96,265,154(+) G/A/T upstream_transcript_variant
rs1060503975 likely-benign, Hereditary Paraganglioma-Pheochromocytoma Syndromes 96,265,343(+) G/A/T upstream_transcript_variant
rs121908813 likely-pathogenic, Pheochromocytoma 96,265,399(+) G/A upstream_transcript_variant
rs121908814 likely-pathogenic, pathogenic, Pheochromocytoma, Hereditary cancer-predisposing syndrome 96,265,379(+) C/A upstream_transcript_variant
rs121908815 likely-pathogenic, Pheochromocytoma 96,265,306(+) G/A upstream_transcript_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)

Additional Variant Information for CIAO1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CIAO1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CIAO1 Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
hereditary paraganglioma-pheochromocytoma syndromes
  • paragangliomas 4
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search CIAO1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CIAO1

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

No data available for 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 BJ … Adams MD (Genomics 1999) 2 3 4 58
  2. Ciao 1 is a novel WD40 protein that interacts with the tumor suppressor protein WT1. (PMID: 9556563) Johnstone RW … Shi Y (The Journal of biological chemistry 1998) 2 3 4 58
  3. 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 58
  4. MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism. (PMID: 22678361) Gari K … Boulton SJ (Science (New York, N.Y.) 2012) 3 4 58
  5. MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation. (PMID: 20797633) Ito S … Tanaka K (Molecular cell 2010) 3 4 58

Products for CIAO1 Gene

Sources for CIAO1 Gene

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