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PIR pirin [ Homo sapiens (human) ]

Gene ID: 8544, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (15384799..15493333, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14967733..15076309, complement)
105.20220307 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. Pirin is a nuclear redox-sensitive modulator of autophagy-dependent ferroptosis. Hu N, et al. Biochem Biophys Res Commun, 2021 Jan 15. PMID 33373853
  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. Sex-specific effect of Pirin gene on bone mineral density in a cohort of 4000 Chinese. Tang NL, et al. Bone, 2010 Feb. PMID 19766747

See all (41) 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)

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

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_2023_10

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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