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

Summary

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
Summary: Involved in iron-sulfur cluster assembly and protein maturation by iron-sulfur cluster transfer. Located in cytoplasm. Part of CIA complex and MMXD complex. [provided by Alliance of Genome Resources, Apr 2022]
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

Location:: 2q11.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_03	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (96266225..96274173)
RS_2023_03	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (96772833..96780781)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (96931963..96939911)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-33807 (e-PCR)
- UniSTS:77335

D10S275 (e-PCR)
- UniSTS:147992

D8S2279 (e-PCR)
- UniSTS:473907

MARC_3297-3298:991936980:1 (e-PCR)
- UniSTS:231008

RH75344 (e-PCR)
- UniSTS:84068

D15S1477 (e-PCR)
- UniSTS:474482

L17877 (e-PCR)
- UniSTS:61334

L17809 (e-PCR)
- UniSTS:39087

G29219 (e-PCR)
- UniSTS:39418

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	PubMed
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 CIA complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of CIA complex	IDA Inferred from Direct Assay more info	PubMed
part_of MMXD complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	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)

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

O76071, Q53FM5

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]