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    CIAO1 cytosolic iron-sulfur assembly component 1 [ Homo sapiens (human) ]

    Gene ID: 9391, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CIAO1provided by HGNC
    Official Full Name
    cytosolic iron-sulfur assembly component 1provided by HGNC
    Primary source
    HGNC:HGNC:14280
    See related
    Ensembl:ENSG00000144021 MIM:604333; AllianceGenome:HGNC:14280
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CIA1; WDR39; MMDS10
    Summary
    Involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in cytoplasm. Part of MMXD complex and cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 18.1), kidney (RPKM 17.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIAO1 in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (96266225..96274173)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (96772833..96780781)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (96931963..96939911)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene STARD7 antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 112 Neighboring gene Sharpr-MPRA regulatory region 4718 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16207 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16208 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16209 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16210 Neighboring gene transmembrane protein 127 Neighboring gene VISTA enhancer hs1919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11761 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16212 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16213 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:96933152-96934351 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:96944520-96945719 Neighboring gene small nuclear ribonucleoprotein U5 subunit 200 Neighboring gene Sharpr-MPRA regulatory region 61 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16214 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:96972365-96972993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16215 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11762 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11763 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11764 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:96991242-96991742 Neighboring gene ITPRIP like 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes. Maio N, et al. J Clin Invest, 2024 Jun 17. PMID 38950322, Free PMC Article
    2. Viperin is an iron-sulfur protein that inhibits genome synthesis of tick-borne encephalitis virus via radical SAM domain activity. Upadhyay AS, et al. Cell Microbiol, 2014 Jun. PMID 24245804
    3. A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor. Nan H, et al. J Alzheimers Dis, 2021. PMID 34569959, Free PMC Article
    4. CIAO3 protein forms a stable ternary complex with two key players of the human cytosolic iron-sulfur cluster assembly machinery. Maione V, et al. J Biol Inorg Chem, 2020 May. PMID 32222833
    5. Structure of the yeast WD40 domain protein Cia1, a component acting late in iron-sulfur protein biogenesis. Srinivasan V, et al. Structure, 2007 Oct. PMID 17937914

    See all (85) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
      Title: CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
    2. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.
      Title: CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.
    3. A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-beta Protein Precursor.
      Title: A Novel Heterozygous Missense Variant in the CIAO1 Gene in a Family with Alzheimer's Disease: The Val67Ile Variant Promotes the Interaction of CIAO1 and Amyloid-β Protein Precursor.
    4. Structural insights into Fe-S protein biogenesis by the CIA targeting complex.
      Title: Structural insights into Fe-S protein biogenesis by the CIA targeting complex.
    5. CIAO1 role in the iron-sulfur cluster biogenesis.The LYR motif of CIAO1 is required for the interaction with HSC20.
      Title: Cytosolic HSC20 integrates de novo iron-sulfur cluster biogenesis with the CIAO1-mediated transfer to recipients.
    6. Data suggest that CIA2B and MMS19 physically interact with C-terminus of viperin/RSAD2; CIAO1 appears to function as primary viperin-interacting protein; CIA2A binds to N-terminus of viperin in CIAO1-, CIA2B-, and MMS19-independent fashion. (CIA2B = metallochaperone CIA2B/FAM96B; MMS19 = transcription factor MMS19; CIAO1 = cytosolic iron-sulfur assembly component 1; CIA2A = metallochaperone CIA2A/Fam96a)
      Title: Cellular requirements for iron-sulfur cluster insertion into the antiviral radical SAM protein viperin.
    7. POLE1 is phosphorylated at serine-1940 after DNA damage and interacts with the iron-sulfur complex chaperones CIAO1 and MMS19.
      Title: Human DNA polymerase ε is phosphorylated at serine-1940 after DNA damage and interacts with the iron-sulfur complex chaperones CIAO1 and MMS19.
    8. These data suggest that viperin requires CIAO1 for [4Fe-4S] cluster assembly, and acts through an enzymatic, Fe-S cluster- and SAM-dependent mechanism to inhibit viral RNA synthesis.
      Title: Viperin is an iron-sulfur protein that inhibits genome synthesis of tick-borne encephalitis virus via radical SAM domain activity.
    9. CIA2B-CIA1-MMS19 and CIA2A-CIA1 assist different branches of Fe/S protein assembly and intimately link this process to cellular iron regulation via IRP1 Fe/S cluster maturation and IRP2 stabilization.
      Title: Human CIA2A-FAM96A and CIA2B-FAM96B integrate iron homeostasis and maturation of different subsets of cytosolic-nuclear iron-sulfur proteins.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol HIV-1 IN is identified to have a physical interaction with cytosolic iron-sulfur protein assembly 1 (CIAO1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromosome segregation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in iron-sulfur cluster assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in iron-sulfur cluster assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in iron-sulfur cluster assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein maturation by iron-sulfur cluster transfer IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of MMXD complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of cytosolic [4Fe-4S] assembly targeting complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of cytosolic [4Fe-4S] assembly targeting complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    probable cytosolic iron-sulfur protein assembly protein CIAO1
    Names
    WD repeat domain 39
    WD repeat-containing protein 39
    WD40 protein Ciao1
    cytosolic iron-sulfur protein assembly 1 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004804.3 → NP_004795.1  probable cytosolic iron-sulfur protein assembly protein CIAO1

      See identical proteins and their annotated locations for NP_004795.1

      Status: VALIDATED

      Source sequence(s)
      AI094333, AK124703, BC032812, BE220199, BG108391, BI460314
      Consensus CDS
      CCDS2019.1
      UniProtKB/Swiss-Prot
      A0MNN9, O76071, Q53FM5
      UniProtKB/TrEMBL
      B2RDJ6
      Related
      ENSP00000418287.1, ENST00000488633.2
      Conserved Domains (2) summary
      cd00200
      Location:17 → 332
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      sd00039
      Location:19 → 58
      7WD40; WD40 repeat [structural motif]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      96266225..96274173
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      96772833..96780781
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O76071.1 GenPept UniProtKB/Swiss-Prot:O76071

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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