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 co... See more...

Aliases for PIR Gene

Aliases for PIR Gene

  • Pirin 2 3 4 5
  • Probable Quercetin 2,3-Dioxygenase PIR 3 4
  • Pirin (Iron-Binding Nuclear Protein) 2 3
  • Probable Quercetinase 3 4
  • EC 1.13.11.24 4
  • PIR 5

External Ids for PIR Gene

Previous GeneCards Identifiers for PIR Gene

  • GC0XM015154
  • GC0XM014228
  • GC0XM014604
  • GC0XM014764
  • GC0XM015162
  • GC0XM015312
  • GC0XM013159

Summaries for PIR Gene

Entrez Gene Summary for PIR Gene

  • 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]

GeneCards Summary for PIR Gene

PIR (Pirin) is a Protein Coding gene. Diseases associated with PIR include Paranoid Personality Disorder and Exhibitionism. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and Apoptosis and Autophagy. Gene Ontology (GO) annotations related to this gene include transcription coregulator activity and quercetin 2,3-dioxygenase activity.

UniProtKB/Swiss-Prot Summary for PIR Gene

  • Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro).

Gene Wiki entry for PIR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIR Gene

Genomics for PIR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ015492 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 642.9 +0.5 466 2.2 CTCF PRDM10 IKZF1 ZNF692 BACH1 JUND ZIC2 RBFOX2 PKNOX1 ZNF24 PIR PIR-FIGF VEGFD BMX
GH0XJ015515 Enhancer 1.2 FANTOM5 Ensembl ENCODE 32.3 -21.8 -21810 4 PRDM10 LEF1 IKZF1 JUND MTA2 ZNF24 DPF2 HDAC1 SOX6 GATAD2B PIR RF00017-8173 BMX ACE2
GH0XJ015471 Enhancer 0.8 Ensembl ENCODE 33.4 +22.0 22026 1.3 CTCF JUND ZNF143 REST RAD21 TRIM22 CEBPB RUNX3 ZNF316 USF1 PIR VEGFD BMX PIR-FIGF
GH0XJ015579 Enhancer 1 Ensembl ENCODE 26.2 -86.9 -86920 1.6 LEF1 IKZF1 JUND DPF2 HDAC1 SOX6 GATAD2B TCF12 EP300 CBX3 PIR ACE2 GS1-594A7.3 CLTRN lnc-ACE2-1 HNRNPDLP5 ENSG00000285602
GH0XJ015673 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.5 -182.3 -182250 3.9 SP1 CREB1 PRDM10 ZNF629 POLR2A ZNF692 TARDBP ZHX2 PRDM1 ZNF143 CLTRN CA5BP1 CA5BP1-CA5B ENSG00000285602 CA5B ENSG00000200620 PIR AP1S2 PIGA ZRSR2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIR

Top Transcription factor binding sites by QIAGEN in the PIR gene promoter:
  • COMP1
  • HTF
  • NF-AT
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • STAT3
  • YY1

Genomic Locations for PIR Gene

Genomic Locations for PIR Gene
chrX:15,384,799-15,493,588
(GRCh38/hg38)
Size:
108,790 bases
Orientation:
Minus strand
chrX:15,402,921-15,511,711
(GRCh37/hg19)
Size:
108,791 bases
Orientation:
Minus strand

Genomic View for PIR Gene

Genes around PIR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIR Gene

Proteins for PIR Gene

  • Protein details for PIR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00625-PIR_HUMAN
    Recommended name:
    Pirin
    Protein Accession:
    O00625
    Secondary Accessions:
    • Q5U0G0
    • Q6FHD2

    Protein attributes for PIR Gene

    Size:
    290 amino acids
    Molecular mass:
    32113 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    • May interact with NF1/CTF1. Interacts with BCL3. Identified in a complex comprised of PIR, BLC3, NFKB1 and target DNA.

    Three dimensional structures from OCA and Proteopedia for PIR Gene

neXtProt entry for PIR Gene

Post-translational modifications for PIR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PIR Gene

Domains & Families for PIR Gene

Gene Families for PIR Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PIR Gene

InterPro:
Blocks:
  • Protein of unknown function DUF209
ProtoNet:

Suggested Antigen Peptide Sequences for PIR Gene

GenScript: Design optimal peptide antigens:
  • Probable quercetin 2,3-dioxygenase PIR (PIR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00625

UniProtKB/Swiss-Prot:

PIR_HUMAN :
  • Belongs to the pirin family.
Family:
  • Belongs to the pirin family.
genes like me logo Genes that share domains with PIR: view

Function for PIR Gene

Molecular function for PIR Gene

UniProtKB/Swiss-Prot Function:
Transcriptional coregulator of NF-kappa-B which facilitates binding of NF-kappa-B proteins to target kappa-B genes in a redox-state-dependent manner. May be required for efficient terminal myeloid maturation of hematopoietic cells. Has quercetin 2,3-dioxygenase activity (in vitro).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=O2 + quercetin = 2-(3,4-dihydroxybenzoyloxy)-4,6-dihydroxybenzoate + CO; Xref=Rhea:RHEA:15381, ChEBI:CHEBI:15379, ChEBI:CHEBI:17245, ChEBI:CHEBI:57628, ChEBI:CHEBI:57694; EC=1.13.11.24; Evidence={ECO:0000269|PubMed:15951572};.
UniProtKB/Swiss-Prot Induction:
Up-regulated in CD34(+) cells upon myelomonocytic differentiation. Down-regulated in many acute myeloid leukemias. Up-regulated in primary bronchial epithelial cells exposed to cigarette smoke extract.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by kojic acid, sodium diethyldithiocarbamate and 1,10-phenanthroline monohydrochloride.

Enzyme Numbers (IUBMB) for PIR Gene

Gene Ontology (GO) - Molecular Function for PIR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003712 transcription coregulator activity TAS,IMP 23716661
GO:0005515 protein binding IPI 10362352
GO:0008127 quercetin 2,3-dioxygenase activity TAS --
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA,IDA 20711196
genes like me logo Genes that share ontologies with PIR: view
genes like me logo Genes that share phenotypes with PIR: view

Animal Model Products

CRISPR Products

miRNA for PIR Gene

miRTarBase miRNAs that target PIR

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIR

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIR Gene

Localization for PIR Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIR Gene

Nucleus. Cytoplasm. Note=Predominantly localized in dot-like subnuclear structures. Cytoplasmic localization of PIR seems to positively correlate with melanoma progression. {ECO:0000269 PubMed:20089166, ECO:0000269 PubMed:9079676}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIR gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PIR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 9079676
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,IDA 20089166
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with PIR: view

Pathways & Interactions for PIR Gene

genes like me logo Genes that share pathways with PIR: view

Pathways by source for PIR Gene

1 Sino Biological pathway for PIR Gene
2 Cell Signaling Technology pathways for PIR Gene

UniProtKB/Swiss-Prot O00625-PIR_HUMAN

  • Pathway: Flavonoid metabolism; quercetin degradation.

Gene Ontology (GO) - Biological Process for PIR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II TAS 9079676
GO:0007586 digestion TAS --
GO:0030099 myeloid cell differentiation IEA --
GO:0030224 monocyte differentiation IBA,IMP 20010624
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with PIR: view

No data available for SIGNOR curated interactions for PIR Gene

Drugs & Compounds for PIR Gene

(2) Drugs for PIR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Oxygen Approved, Vet_approved Pharma 0
Quercetin Experimental, Investigational Pharma Antitumor agent, Non-selective PI 3-kinase inhibitor 54

(2) Additional Compounds for PIR Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-(3,4-Dihydroxybenzoyloxy)-4,6-dihydroxybenzoate
  • 2,4DIOH-6(2,4Diohbenacid)benzacid
  • 2-Protocatechoylphloroglucinolcarboxylate
  • 2-Protocatechuoyl phloroglucinolcarboxylate
  • 2-(3,4-Dihydroxybenzoyloxy)-4,6-dihydroxybenzoic acid
  • 2-Protocatechoylphloroglucinolcarboxylic acid
Hydrogen Ion
  • H+
  • H(+)
  • Hydrogen cation
  • Hydron
  • Proton
genes like me logo Genes that share compounds with PIR: view

Transcripts for PIR Gene

mRNA/cDNA for PIR Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIR

Alternative Splicing Database (ASD) splice patterns (SP) for PIR Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: -
SP2:

Relevant External Links for PIR Gene

GeneLoc Exon Structure for
PIR

Expression for PIR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIR Gene

This gene is overexpressed in Tonsil (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIR Gene



Protein tissue co-expression partners for PIR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIR

SOURCE GeneReport for Unigene cluster for PIR Gene:

Hs.495728

mRNA Expression by UniProt/SwissProt for PIR Gene:

O00625-PIR_HUMAN
Tissue specificity: Highly expressed in a subset of melanomas. Detected at very low levels in most tissues (at protein level). Expressed in all tissues, with highest level of expression in heart and liver.

Evidence on tissue expression from TISSUES for PIR Gene

  • Skin(3.5)
  • Lung(3.1)
  • Nervous system(2.9)
  • Liver(2.5)
  • Kidney(2.5)
  • Blood(2.5)
  • Muscle(2.3)
  • Heart(2.3)
  • Intestine(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with PIR: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIR Gene

Orthologs for PIR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PIR 30 31
  • 95.24 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIR 30 31
  • 92.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIR 30 31
  • 90.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pir 30 17 31
  • 89.66 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pir 30
  • 89.08 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PIR 31
  • 89 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIR 31
  • 82 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIR 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pir 30
  • 72.41 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53094 30
Zebrafish
(Danio rerio)
Actinopterygii pir 30 31
  • 67.49 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.395 30
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01243g 30
  • 50 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G43120 30
  • 57.74 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0845000 30
  • 56.31 (n)
Os.7536 30
Barley
(Hordeum vulgare)
Liliopsida Hv.6878 30
Wheat
(Triticum aestivum)
Liliopsida Ta.25447 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.1684 31
  • 56 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU03369 30
  • 51.33 (n)
Species where no ortholog for PIR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Worm (Caenorhabditis elegans)

Evolution for PIR Gene

ENSEMBL:
Gene Tree for PIR (if available)
TreeFam:
Gene Tree for PIR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIR: view image

Paralogs for PIR Gene

No data available for Paralogs for PIR Gene

Variants for PIR Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for PIR Gene

PIR_HUMAN-O00625
Genetic variations in PIR might have a sex-specific influence on bone mineral density differences in some populations, as reported by PubMed:19766747. In a cohort of 4000 Chinese, a significant statistical association has been identified, in women but not in men, between the intronic SNP rs5935970 and lumbar spine bone mineral density, and between a haplotype composed of three SNPs with bone mineral density at other sites.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIR Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
717759 Benign: not provided 15,456,011(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
717762 Benign: not provided 15,456,039(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
775779 Benign: not provided 15,390,251(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
778979 Benign: not provided 15,397,459(-) A/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs34104000 - p.Val228Ala

Additional dbSNP identifiers (rs#s) for PIR Gene

Structural Variations from Database of Genomic Variants (DGV) for PIR Gene

Variant ID Type Subtype PubMed ID
dgv2228e212 CNV loss 25503493
esv2669590 CNV deletion 23128226
esv2739977 CNV deletion 23290073
esv3380907 CNV insertion 20981092
nsv515969 CNV gain 19592680
nsv518666 CNV loss 19592680
nsv521301 CNV gain 19592680
nsv528343 CNV gain 19592680

Variation tolerance for PIR Gene

Residual Variation Intolerance Score: 86.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIR Gene

Human Gene Mutation Database (HGMD)
PIR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIR

SNP Genotyping and Copy Number Assay Products

Disorders for PIR Gene

MalaCards: The human disease database

(21) MalaCards diseases for PIR Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PIR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PIR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PIR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PIR Gene

Publications for PIR Gene

  1. Sex-specific effect of Pirin gene on bone mineral density in a cohort of 4000 Chinese. (PMID: 19766747) Tang NL … Leung PC (Bone 2010) 3 4 23 41
  2. Identification of pirin, a novel highly conserved nuclear protein. (PMID: 9079676) Wendler WM … Winnacker EL (The Journal of biological chemistry 1997) 2 3 4 23
  3. Pirin delocalization in melanoma progression identified by high content immuno-detection based approaches. (PMID: 20089166) Licciulli S … Alcalay M (BMC cell biology 2010) 3 4 23
  4. Structural and biochemical analysis reveal pirins to possess quercetinase activity. (PMID: 15951572) Adams M … Jia Z (The Journal of biological chemistry 2005) 3 4 23
  5. Crystal structure of human pirin: an iron-binding nuclear protein and transcription cofactor. (PMID: 14573596) Pang H … Rao Z (The Journal of biological chemistry 2004) 3 4 23

Products for PIR Gene

Sources for PIR Gene