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

    Gene ID: 64428, updated on 10-Dec-2024

    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 and metal ion binding activity. Involved in several processes, including intracellular oxygen homeostasis; iron-sulfur cluster assembly; and response to hypoxia. Part of cytosolic [4Fe-4S] assembly targeting complex. [provided by Alliance of Genome Resources, Dec 2024]
    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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (729765..740997, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (733939..745171, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 6949 Neighboring gene coiled-coil domain containing 78 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6953 Neighboring gene hydroxyacylglutathione hydrolase like Neighboring gene Sharpr-MPRA regulatory region 977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:790544-791139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6956 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. NARFL deficiency caused mitochondrial dysfunction in lung cancer cells by HIF-1α-DNMT1 axis. Liu H, et al. Sci Rep, 2023 Oct 11. PMID 37821486, Free PMC Article
    2. 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
    3. 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
    4. 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
    5. 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

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NARFL deficiency caused mitochondrial dysfunction in lung cancer cells by HIF-1alpha-DNMT1 axis.
      Title: NARFL deficiency caused mitochondrial dysfunction in lung cancer cells by HIF-1α-DNMT1 axis.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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)

    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 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 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
    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/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_2024_08

    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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