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Aliases for PIR Gene

Aliases for PIR Gene

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

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 chilblain lupus and acrocallosal syndrome. GO annotations related to this gene include transcription cofactor activity and quercetin 2,3-dioxygenase activity.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIR Gene

Genomics for PIR Gene

Regulatory Elements for PIR Gene

Promoters for PIR Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PIR on UCSC Golden Path with GeneCards custom track

Genomic Location for PIR Gene

Chromosome:
X
Start:
15,384,799 bp from pter
End:
15,493,588 bp from pter
Size:
108,790 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

Proteomics data for PIR Gene at MOPED

Post-translational modifications for PIR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PIR Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PIR (PIR)

No data available for DME Specific Peptides for PIR Gene

Domains & Families for PIR Gene

Protein Domains for PIR Gene

Suggested Antigen Peptide Sequences for PIR Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for PIR Gene

Function for PIR Gene

Molecular function for PIR Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Quercetin + O(2) = 2-(3,4-dihydroxybenzoyloxy)-4,6-dihydroxybenzoate + CO + H(+).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by kojic acid, sodium diethyldithiocarbamate and 1,10-phenanthroline monohydrochloride.
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 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.

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 cofactor activity IMP 23716661
GO:0005515 protein binding IPI 10362352
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

miRNA for PIR Gene

miRTarBase miRNAs that target PIR

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for PIR Gene COMPARTMENTS Subcellular localization image for PIR gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

No data available for Gene Ontology (GO) - Cellular Components for PIR Gene

Pathways & Interactions for PIR Gene

SuperPathways for PIR Gene

No Data Available

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:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with PIR: view

No data available for Pathways by source and SIGNOR curated interactions for PIR Gene

Drugs & Compounds for PIR Gene

(1) Drugs for PIR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Quercetin Experimental Nutra Antitumor agent, Non-selective PI 3-kinase inhibitor 36

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-(3,4-Dihydroxybenzoyloxy)-4,6-dihydroxybenzoate
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with PIR: view

Transcripts for PIR Gene

Unigene Clusters for PIR Gene

Pirin (iron-binding nuclear protein):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
PIR

Expression for PIR Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for PIR Gene



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.
genes like me logo Genes that share expression patterns with PIR: view

Protein tissue co-expression partners for PIR Gene

- Elite partner

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia PIR 35
  • 90.74 (n)
  • 92.36 (a)
PIR 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PIR 35
  • 92.3 (n)
  • 96.21 (a)
PIR 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pir 35
  • 89.66 (n)
  • 95.86 (a)
Pir 16
Pir 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PIR 35
  • 95.24 (n)
  • 93.93 (a)
PIR 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pir 35
  • 89.08 (n)
  • 95.52 (a)
oppossum
(Monodelphis domestica)
Mammalia PIR 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIR 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIR 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pir 35
  • 72.41 (n)
  • 76.9 (a)
African clawed frog
(Xenopus laevis)
Amphibia MGC53094 35
zebrafish
(Danio rerio)
Actinopterygii pir 35
  • 67.49 (n)
  • 72.28 (a)
pir 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.395 35
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D01243g 35
  • 50 (n)
  • 41.79 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G43120 35
  • 57.74 (n)
  • 56.79 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.6878 35
rice
(Oryza sativa)
Liliopsida Os.7536 35
Os03g0845000 35
  • 56.31 (n)
  • 55.36 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.25447 35
bread mold
(Neurospora crassa)
Ascomycetes NCU03369 35
  • 51.33 (n)
  • 51.09 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1684 36
  • 56 (a)
OneToOne
Species with no ortholog for PIR:
  • A. gosspyii yeast (Ashbya 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 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)

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

O00625-PIR_HUMAN
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 from dbSNP and Humsavar for PIR Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_050543 -
rs73635098 -- 15,493,805(+) GCACT(A/G)CAGAA upstream-variant-2KB
rs140384063 -- 15,493,775(+) TGAGA(A/G)TTAAA upstream-variant-2KB
rs183910461 -- 15,493,317(+) CGCGG(C/G)CGGCG utr-variant-5-prime
rs148530113 -- 15,493,328(+) GCCTA(A/G)AGGAG utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
nsv528343 CNV Gain 19592680
nsv515969 CNV Gain 19592680
nsv521301 CNV Gain 19592680
esv2669590 CNV Deletion 23128226
nsv518666 CNV Loss 19592680
esv2739977 CNV Deletion 23290073

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)

Relevant External Links for PIR Gene

HapMap Linkage Disequilibrium report
PIR
Human Gene Mutation Database (HGMD)
PIR

Disorders for PIR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
chilblain lupus
  • chilblain lupus 1
acrocallosal syndrome
  • joubert syndrome 12
- elite association - COSMIC cancer census association via MalaCards
Search PIR in MalaCards View complete list of genes associated with diseases

Relevant External Links for PIR

Genetic Association Database (GAD)
PIR
Human Genome Epidemiology (HuGE) Navigator
PIR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIR
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. Identification of pirin, a novel highly conserved nuclear protein. (PMID: 9079676) Wendler W.M.F. … Winnacker E.-L. (J. Biol. Chem. 1997) 2 3 4 23 67
  2. Pirin delocalization in melanoma progression identified by high content immuno-detection based approaches. (PMID: 20089166) Licciulli S. … Alcalay M. (BMC Cell Biol. 2010) 3 23
  3. Sex-specific effect of Pirin gene on bone mineral density in a cohort of 4000 Chinese. (PMID: 19766747) Tang N.L. … Leung P.C. (Bone 2010) 3 23
  4. Structural and biochemical analysis reveal pirins to possess quercetinase activity. (PMID: 15951572) Adams M. … Jia Z. (J. Biol. Chem. 2005) 3 23
  5. Crystal structure of human pirin: an iron-binding nuclear protein and transcription cofactor. (PMID: 14573596) Pang H. … Rao Z. (J. Biol. Chem. 2004) 3 23

Products for PIR Gene

Sources for PIR Gene

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