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

Gene ID: 9391, updated on 27-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
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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
  • 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)

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

    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

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