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    PIR pirin [ Homo sapiens (human) ]

    Gene ID: 8544, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PIRprovided by HGNC
    Official Full Name
    pirinprovided by HGNC
    Primary source
    HGNC:HGNC:30048
    See related
    Ensembl:ENSG00000087842 MIM:300931; AllianceGenome:HGNC:30048
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 9.0), urinary bladder (RPKM 8.0) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIR in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (15384799..15493333, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14967733..15076309, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15402921..15511456, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29447 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A Neighboring gene PIR-FIGF readthrough Neighboring gene vascular endothelial growth factor D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20672 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:15510866-15511368 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:15511369-15511872 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:15537807-15538079 Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene angiotensin converting enzyme 2 Neighboring gene HNRNPDL pseudogene 5 Neighboring gene dACE2 interferon-inducible promoter region Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:15617708-15618907 Neighboring gene ACE2 promoter region Neighboring gene ACE2 divergent transcript

    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. Purification, crystallization and preliminary X-ray analysis of human pirin. Zeng Q, et al. Acta Crystallogr D Biol Crystallogr, 2003 Aug. PMID 12876364
    2. Pirin regulates epithelial to mesenchymal transition independently of Bcl3-Slug signaling. Komai K, et al. FEBS Lett, 2015 Mar 12. PMID 25680527
    3. Pirin down-regulates the EAF2/U19 protein and alleviates its growth inhibition in prostate cancer cells. Qiao Z, et al. Prostate, 2014 Feb. PMID 24272884, Free PMC Article
    4. Pirin inhibits cellular senescence in melanocytic cells. Licciulli S, et al. Am J Pathol, 2011 May. PMID 21514450, Free PMC Article
    5. Pirin is a nuclear redox-sensitive modulator of autophagy-dependent ferroptosis. Hu N, et al. Biochem Biophys Res Commun, 2021 Jan 15. PMID 33373853

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5.
      Title: PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5.
    2. Pirin is a nuclear redox-sensitive modulator of autophagy-dependent ferroptosis.
      Title: Pirin is a nuclear redox-sensitive modulator of autophagy-dependent ferroptosis.
    3. PIR promotes tumorigenesis of breast cancer by upregulating cell cycle activator E2F1.
      Title: PIR promotes tumorigenesis of breast cancer by upregulating cell cycle activator E2F1.
    4. miR-455-5p/PIR axis contributed to cancer cell aggressiveness.
      Title: Pirin: a potential novel therapeutic target for castration-resistant prostate cancer regulated by miR-455-5p.
    5. Data suggest that only the Fe(III) form of pirin [not the Fe(II) form] enhances affinity of binding between p65 and DNA in the pirin-p65-DNA supramolecular complex. (pirin = quercetin 2,3-dioxygenase; p65 = RELA proto-oncogene NF-kappaB subunit)
      Title: Redox-Specific Allosteric Modulation of the Conformational Dynamics of κB DNA by Pirin in the NF-κB Supramolecular Complex.
    6. Pirin regulates E-cadherin independently of Bcl3-Slug signaling.
      Title: Pirin regulates epithelial to mesenchymal transition independently of Bcl3-Slug signaling.
    7. The NRF2 transcription factor binds to this element in vivo and drives the basal PIR expression.
      Title: Basal PIR expression in HeLa cells is driven by NRF2 via evolutionary conserved antioxidant response element.
    8. Pirin is a newly identified binding partner of EAF2/U19 capable of down-regulating EAF2/U19 protein and alleviating its inhibition of prostate cancer cell survival/proliferation.
      Title: Pirin down-regulates the EAF2/U19 protein and alleviates its growth inhibition in prostate cancer cells.
    9. Data indicate that the R-shaped area composes the interface for pirin-NF-kappaB binding that is responsible for modulation of NF-kappaB's DNA-binding properties.
      Title: Pirin is an iron-dependent redox regulator of NF-κB.
    10. pirin may have a relevant role in melanoma progression.
      Title: Pirin inhibits cellular senescence in melanocytic cells.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    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)

    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

    Readthrough PIR-FIGF

    Readthrough gene: PIR-FIGF, Included gene: VEGFD

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables quercetin 2,3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables quercetin 2,3-dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables quercetin 2,3-dioxygenase activity TAS
    Traceable Author Statement
    more info
    		  
    enables transcription coregulator activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in digestion TAS
    Traceable Author Statement
    more info
    		  
    involved_in monocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within monocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    pirin
    Names
    pirin (iron-binding nuclear protein)
    probable quercetin 2,3-dioxygenase PIR
    probable quercetinase
    NP_001018119.1
    NP_003653.1

    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.

    Genomic

    1. NG_012549.2 RefSeqGene

      Range
      5000..113534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001018109.3 → NP_001018119.1  pirin

      See identical proteins and their annotated locations for NP_001018119.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC097625, BC002517, DA686501
      Consensus CDS
      CCDS14167.1
      UniProtKB/Swiss-Prot
      O00625, Q5U0G0, Q6FHD2
      Related
      ENSP00000369785.5, ENST00000380420.10
      Conserved Domains (1) summary
      COG1741
      Location:17 → 275
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]

    2. NM_003662.4 → NP_003653.1  pirin

      See identical proteins and their annotated locations for NP_003653.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC002517, DA686501, DT217415, Y07868
      Consensus CDS
      CCDS14167.1
      UniProtKB/Swiss-Prot
      O00625, Q5U0G0, Q6FHD2
      Related
      ENSP00000369786.3, ENST00000380421.3
      Conserved Domains (1) summary
      COG1741
      Location:17 → 275
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      15384799..15493333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      14967733..15076309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O00625.1 GenPept UniProtKB/Swiss-Prot:O00625

    Gene LinkOut

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