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CIAO3 cytosolic iron-sulfur assembly component 3 [ Homo sapiens (human) ]

Gene ID: 64428, updated on 7-Sep-2023

Summary

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Official Symbol
CIAO3provided by HGNC
Official Full Name
cytosolic iron-sulfur assembly component 3provided by HGNC
Primary source
HGNC:HGNC:14179
See related
Ensembl:ENSG00000103245 MIM:611118; AllianceGenome:HGNC:14179
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
PRN; HPRN; IOP1; NAR1; LET1L; NARFL
Summary
Predicted to enable 4 iron, 4 sulfur cluster binding activity. Involved in several processes, including iron-sulfur cluster assembly; oxygen homeostasis; and response to hypoxia. Part of CIA complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 7.4), prostate (RPKM 7.1) and 25 other tissues See more
Orthologs
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Genomic context

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See CIAO3 in Genome Data Viewer
Location:
16p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (729765..740997, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (733939..745171, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (779765..790997, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene adenine nucleotide translocase lysine methyltransferase Neighboring gene coiled-coil domain containing 78 Neighboring gene hydroxyacylglutathione hydrolase like Neighboring gene Sharpr-MPRA regulatory region 977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:790544-791139 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:800614-801181 Neighboring gene MSLN promoter region Neighboring gene mesothelin Neighboring gene microRNA 662 Neighboring gene mesothelin like

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. A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations. Liu HZ, et al. Oncotarget, 2017 Jan 10. PMID 27835862, Free PMC Article
  2. Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis. Song D, et al. J Biol Chem, 2009 Dec 18. PMID 19864422, Free PMC Article
  3. A role for IOP1 in mammalian cytosolic iron-sulfur protein biogenesis. Song D, et al. J Biol Chem, 2008 Apr 4. PMID 18270200, 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. IOP1, a novel hydrogenase-like protein that modulates hypoxia-inducible factor-1alpha activity. Huang J, et al. Biochem J, 2007 Jan 1. PMID 16956324, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CIAO3 protein forms a stable ternary complex with two key players of the human cytosolic iron-sulfur cluster assembly machinery.
    Title: CIAO3 protein forms a stable ternary complex with two key players of the human cytosolic iron-sulfur cluster assembly machinery.
  2. we concluded that the Ser161Ile mutant induced NARFL deficiency and eventually diffuse PAVMs probably through VEGF pathway. In a word, we detected a functional mutation in NARFL, which might be the pathogenic gene in this pedigree.
    Title: A novel mutation in nuclear prelamin a recognition factor-like causes diffuse pulmonary arteriovenous malformations.
  3. MMS19 interacts with target proteins. MIP18 has a role to bridge MMS19 and CIAO1. CIAO1 also binds IOP1.
    Title: 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.
  4. human IscA1 plays an important role in both mitochondrial and cytosolic iron-sulfur cluster biogenesis, and a notable component of the latter is the interaction between IscA1 and IOP1.
    Title: Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.
  5. IOP1 is involved in mammalian cytosolic Fe-S protein maturation.
    Title: A role for IOP1 in mammalian cytosolic iron-sulfur protein biogenesis.
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

EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
EBI GWAS Catalog

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

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

Clone Names

  • FLJ21988

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 4 iron, 4 sulfur cluster binding IEA
Inferred from Electronic Annotation
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in intracellular oxygen homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in iron-sulfur cluster assembly IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in iron-sulfur cluster assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in response to hypoxia IDA
Inferred from Direct Assay
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 

General protein information

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Preferred Names
cytosolic iron-sulfur assembly component 3
Names
LET1 like/JFP15
cytosolic Fe-S cluster assembly factor NARFL
iron-only hydrogenase-like protein 1
nuclear prelamin A recognition factor like
protein related to Narf

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_001304799.2 → NP_001291728.1  cytosolic iron-sulfur assembly component 3 isoform 2

    See identical proteins and their annotated locations for NP_001291728.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate exon in its 5' UTR and uses a downstream in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AY129231, BU741568, DA153375, DB126434
    Consensus CDS
    CCDS76798.1
    UniProtKB/Swiss-Prot
    Q9H6Q4
    UniProtKB/TrEMBL
    B3KPK9
    Related
    ENSP00000444008.1, ENST00000540986.5
    Conserved Domains (2) summary
    smart00902
    Location:316 → 364
    Fe_hyd_SSU; Iron hydrogenase small subunit
    pfam02906
    Location:8 → 303
    Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

  2. NM_022493.3 → NP_071938.1  cytosolic iron-sulfur assembly component 3 isoform 1

    See identical proteins and their annotated locations for NP_071938.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AY129231, BU741568, DA153375
    Consensus CDS
    CCDS10425.1
    UniProtKB/Swiss-Prot
    A1L385, B3KTJ3, Q53GC6, Q96S10, Q9H6J8, Q9H6Q4
    Related
    ENSP00000251588.2, ENST00000251588.7
    Conserved Domains (2) summary
    smart00902
    Location:418 → 466
    Fe_hyd_SSU; Iron hydrogenase small subunit
    pfam02906
    Location:112 → 403
    Fe_hyd_lg_C; Iron only hydrogenase large subunit, C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    729765..740997 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    733939..745171 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H6Q4.1 GenPept UniProtKB/Swiss-Prot:Q9H6Q4

Gene LinkOut

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

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