Free for academic non-profit institutions. Other users need a Commercial license
Aliases for CIAO1 Gene
Aliases for CIAO1 Gene
External Ids for CIAO1 Gene
- HGNC: 14280
- Entrez Gene: 9391
- Ensembl: ENSG00000144021
- OMIM: 604333
- UniProtKB: O76071
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 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 and Xeroderma Pigmentosum, Variant Type. Among its related pathways are Glucose / Energy Metabolism and Metabolism.
UniProtKB/Swiss-Prot Summary 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 (PubMed:17937914, PubMed:23891004). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (PubMed:23891004). Seems to specifically modulate the transactivation activity of WT1 (PubMed:9556563). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633).
Additional gene information for CIAO1 Gene
- HGNC(14280)
- Entrez Gene(9391)
- Ensembl(ENSG00000144021)
- OMIM(604333)
- UniProtKB(O76071)
- Open Targets Platform(ENSG00000144021)
- Search for CIAO1 at DataMed
- Search for CIAO1 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CIAO1 Gene
Genomics for CIAO1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CIAO1 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 CIAO1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CIAO1
- Top Transcription factor binding sites by QIAGEN in the CIAO1 gene promoter:
-
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- GR
- GR-alpha
- GR-beta
- RSRFC4
Genomic Locations for CIAO1 Gene
Genomic Locations for CIAO1 Gene
- chr2:96,266,159-96,274,173
- (GRCh38/hg38)
- Size:
- 8,015 bases
- Orientation:
- Plus strand
- chr2:96,931,870-96,939,917
- (GRCh37/hg19)
- 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:
-
- 2q11.2 by HGNC
- 2q11.2 by Entrez Gene
- 2q11.2 by Ensembl
CIAO1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A0MNN9
- Q53FM5
Protein attributes for CIAO1 Gene
- Size:
- 339 amino acids
- Molecular mass:
- 37840 Da
- Quaternary structure:
-
- Component of the CIA complex (PubMed:22678361, PubMed:22678362, PubMed:23585563). Interacts with CIAO2A and forms a complex with CIAO2B and MMS19; the interactions with CIAO2A and CIAO2B are mutually exclusive (PubMed:22683786, PubMed:23891004, PubMed:23585563). Interacts with CHD1L, ERCC2, IREB2 and POLD1 (PubMed:23891004). Component of the MMXD complex, which includes CIAO1, ERCC2, CIAO2B, MMS19 and SLC25A5 (PubMed:20797633). Interacts with WT1 (PubMed:9556563). Interacts with CIAO3 (PubMed:23585563). Interacts (via LYR motif) with HSC20 (PubMed:29309586).
- Miscellaneous:
-
- 'Ciao' means 'bridge' in Chinese.
Protein Expression for CIAO1 Gene
Post-translational modifications for CIAO1 Gene
Other Protein References for CIAO1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CIAO1
- Novus Biologicals Antibodies for CIAO1
-
Abcam antibodies for CIAO1
- Invitrogen Antibodies for CIAO1 (AFLGC-CIAO1)
-
Boster Bio Antibodies for CIAO1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CIAO1
- Origene Custom Protein Services for CIAO1
- ProSpec Recombinant Proteins for CIAO1
-
Abcam proteins for CIAO1
Assay Products
- antibodies-online: Show 7 available CIAO1 Elisa Kits ranked by validation data
- Compare Top CIAO1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CIAO1 Gene
Domains & Families for CIAO1 Gene
Gene Families for CIAO1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for CIAO1 Gene
- InterPro:
- Blocks:
-
- G-protein beta WD-40 repeat signature
- ProtoNet:
Suggested Antigen Peptide Sequences for CIAO1 Gene
- GenScript: Design optimal peptide antigens:
-
- WD repeat-containing protein 39 (CIAO1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O76071- Family:
-
- Belongs to the WD repeat CIA1 family.
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 (PubMed:17937914, PubMed:23891004). As a CIA complex component, interacts specifically with CIAO2A or CIAO2B and MMS19 to assist different branches of iron-sulfur protein assembly, depending of its interactors. The complex CIAO1:CIAO2B:MMS19 binds to and facilitates the assembly of most cytosolic-nuclear Fe/S proteins. CIAO1:CIAO2A specifically matures ACO1 and stabilizes IREB2 (PubMed:23891004). Seems to specifically modulate the transactivation activity of WT1 (PubMed:9556563). As part of the mitotic spindle-associated MMXD complex it may play a role in chromosome segregation (PubMed:20797633).
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
Phenotypes for CIAO1 Gene
- GenomeRNAi human phenotypes for CIAO1:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Increased shRNA abundance (Z-score > 2)
- Increased Nanog expression
- Decreased shRNA abundance (Z-score < -2)
- Decreased epidermal growth factor (EGF) endocytosis
- Increased G1 length
- Increased G1 length, increased S length
- Increased G1 length, increased S length, increased G2 length
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CIAO1 - Select products 50% OFF >
- * CIAO1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CIAO1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CIAO1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CIAO1
miRNA for CIAO1 Gene
- miRTarBase miRNAs that target CIAO1
-
- hsa-let-7b-5p (MIRT005218)
- hsa-miR-155-5p (MIRT021025)
- hsa-miR-26b-5p (MIRT030108)
- hsa-miR-193b-3p (MIRT041394)
- hsa-miR-6807-5p (MIRT304075)
- hsa-miR-619-5p (MIRT514880)
- hsa-miR-7151-3p (MIRT514881)
- hsa-miR-5095 (MIRT514882)
- hsa-miR-1292-3p (MIRT514883)
- hsa-miR-4438 (MIRT514884)
- hsa-miR-7641 (MIRT659502)
- hsa-miR-4284 (MIRT659503)
- hsa-miR-4695-3p (MIRT659504)
- hsa-miR-4638-5p (MIRT659505)
- hsa-miR-1307-3p (MIRT659506)
- hsa-miR-6741-3p (MIRT659507)
- hsa-miR-4772-3p (MIRT668985)
- hsa-miR-1304-3p (MIRT668986)
- hsa-miR-6890-3p (MIRT668987)
- hsa-miR-4763-3p (MIRT688750)
- hsa-miR-133a-5p (MIRT688751)
- hsa-miR-4757-3p (MIRT688752)
- hsa-miR-4490 (MIRT688753)
- hsa-miR-1264 (MIRT688754)
- hsa-miR-6507-3p (MIRT688755)
- hsa-miR-3913-5p (MIRT720806)
- hsa-miR-3122 (MIRT720807)
- hsa-miR-4298 (MIRT720808)
- hsa-miR-1302 (MIRT720809)
- hsa-miR-488-3p (MIRT720810)
- hsa-miR-193a-5p (MIRT720811)
- hsa-miR-365b-5p (MIRT720812)
- hsa-miR-365a-5p (MIRT720813)
- hsa-miR-8052 (MIRT720814)
- hsa-miR-3199 (MIRT720815)
- hsa-miR-6730-5p (MIRT720816)
- hsa-miR-5681a (MIRT720817)
- hsa-miR-6774-5p (MIRT720818)
- hsa-miR-635 (MIRT720819)
- hsa-miR-6764-5p (MIRT720820)
- hsa-miR-4726-3p (MIRT720821)
- hsa-miR-1915-3p (MIRT720822)
- hsa-miR-6840-3p (MIRT720823)
- hsa-miR-1182 (MIRT720824)
- hsa-miR-193a-3p (MIRT727991)
- hsa-miR-1289 (MIRT737093)
- hsa-miR-129-5p (MIRT737196)
- hsa-miR-203a-3p (MIRT738803)
- hsa-miR-3198 (MIRT741106)
- hsa-miR-4294 (MIRT743778)
- hsa-miR-4309 (MIRT743938)
- hsa-miR-4694-3p (MIRT747155)
- hsa-miR-510-3p (MIRT749724)
- hsa-miR-6514-5p (MIRT753269)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CIAO1
- Browse OriGene Inhibitory RNA Products For CIAO1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIAO1
Clone Products
- Applied Biological Materials (abm): Clones for CIAO1 - Select products 50% OFF >
- * CIAO1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CIAO1
- Addgene plasmids for CIAO1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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 UniProtKB/Swiss-Prot for CIAO1 Gene
- Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 3 |
| mitochondrion | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
- Cytosol (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA,IDA | 23585563 |
| GO:0071817 | MMXD complex | IEA,IDA | 20797633 |
| GO:0097361 | CIA complex | IBA,IDA | 22678361 |
Pathways & Interactions for CIAO1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glucose / Energy Metabolism | ||
| 2 | Cytosolic iron-sulfur cluster assembly | ||
| 3 | Metabolism |
.40
|
|
Pathways by source for CIAO1 Gene
2 Reactome pathways for CIAO1 Gene
1 Cell Signaling Technology pathway for CIAO1 Gene
Interacting Proteins for CIAO1 Gene
Selected Interacting proteins:
O76071-CIAO1_HUMAN
ENSP00000418287
for CIAO1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CIAO1
| 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 | IBA,IMP | 23891004 |
| GO:0097428 | protein maturation by iron-sulfur cluster transfer | IMP | 23891004 |
No data available for SIGNOR curated interactions for CIAO1 Gene
Transcripts for CIAO1 Gene
mRNA/cDNA for CIAO1 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000488633 3968 nts (view in UCSC)
- ENST00000469320 565 nts (view in UCSC)
- ENST00000272402 3588 nts (view in UCSC)
- ENST00000491394 748 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CIAO1 - Select products 50% OFF >
- * CIAO1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CIAO1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CIAO1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CIAO1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CIAO1
- Browse OriGene Inhibitory RNA Products For CIAO1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIAO1
Clone Products
- Applied Biological Materials (abm): Clones for CIAO1 - Select products 50% OFF >
- * CIAO1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CIAO1
- Addgene plasmids for CIAO1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CIAO1
| 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
Expression for CIAO1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Epidermis (Integumentary System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CIAO1
SOURCE GeneReport for Unigene cluster for CIAO1 Gene:
Hs.12109Evidence on tissue expression from TISSUES for CIAO1 Gene
- Skin(4.6)
- Nervous system(4.4)
- Liver(4.4)
- Blood(4.3)
- Stomach(4.3)
- Spleen(2.2)
- Kidney(2.1)
- Lung(2)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs for CIAO1
-
OriGene qPCR primer pairs and template standards for CIAO1
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CIAO1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CIAO1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CIAO1 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CIAO1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CIAO1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ciao1 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ciao1 30 |
|
||
| Chicken (Gallus gallus) |
Aves | CIAO1 30 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ciao1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ciao1 30 31 |
|
OneToOne | |
| zgc55911 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9607 30 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | CIAO1_ANOGA 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Ciao1 30 31 |
|
OneToOne | |
| CG12797 32 |
|
|
|||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_Y18D10A.9 30 |
|
||
| Y18D10A.9 31 32 |
|
OneToOne | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ACR091W 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CIA1 30 31 |
|
OneToOne | |
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0E21781g 30 |
|
||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | emb1345 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os07g0252000 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.6887 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU05426 30 |
|
||
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.13187 30 |
|
- 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
(3) SIMAP similar genes for CIAO1 Gene using alignment to 3 proteins:
- CIAO1_HUMAN
- B2RDJ6_HUMAN
- B4DRZ6_HUMAN
No data available for Paralogs for CIAO1 Gene
Variants 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CIAO1 Gene
Disorders for CIAO1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 |
|
|
| xeroderma pigmentosum, variant type |
|
|
Search CIAO1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CIAO1
No data available for UniProtKB/Swiss-Prot and Genatlas for CIAO1 Gene
Publications for CIAO1 Gene
- 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
- 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
- Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients. (PMID: 29309586) Kim KS … Rouault TA (Human molecular genetics 2018) 3 4
- Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins. (PMID: 23891004) Stehling O … Lill R (Cell metabolism 2013) 3 4
- 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
ExternalLinks
Products for CIAO1 Gene
- Custom Antibody ServicesOriGene Antibodies for CIAO1
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for CIAO1
- Origene Custom Protein Services for CIAO1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CIAO1
- Browse OriGene Inhibitory RNA Products For CIAO1
- OriGene qPCR primer pairs for CIAO1
- OriGene qPCR primer pairs and template standards for CIAO1
- OriGene CRISPR knockouts for CIAO1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CIAO1
- Sino Biological Human cDNA Clone for CIAO1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CIAO1
- Novus Biologicals proteins and lysates for CIAO1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CIAO1
- Abcam proteins for CIAO1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- VectorBuilder Custom and pre-made DNA vectors for CIAO1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CIAO1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CIAO1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CIAO1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CIAO1
- Addgene plasmids for CIAO1
- antibodies-online: Show 19 available CIAO1 Antibodies ranked by validation data
- Compare Top CIAO1 Antibodies
- antibodies-online: Show 7 available CIAO1 Elisa Kits ranked by validation data
- Compare Top CIAO1 Elisa Kits
- Quality Products:
- antibodies-online: Show 15 available CIAO1 Proteins ranked by validation data
- Compare Top CIAO1 Proteins
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CIAO1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CIAO1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CIAO1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CIAO1
- Boster Bio Antibodies for CIAO1
- Browse Boster Bio ELISA Kits
Sources for CIAO1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB