PIR_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)

Gene names: PIR
Protein names and data: PIR_HUMAN , Pirin; 1.13.11.24 , Probable quercetin 2,3-dioxygenase PIR; Probable quercetinase Lenght: 290 a.a.
Mass: 32113 Da
fasta formatted sequence

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).
Catalytic activity: Quercetin + O(2) = 2-(3,4- dihydroxybenzoyloxy)-4,6-dihydroxybenzoate + CO + H(+).
Pathway: Flavonoid metabolism; quercetin degradation.
Cellular location: Nucleus. Cytoplasm. Note=Predominantly localized in dot-like subnuclear structures. Cytoplasmic localization of PIR seems to positively correlate with melanoma progression.
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.

Genetic variants

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.

Database cross-references

UniProt: O00625
Ensembl: ENST00000380420
Ensembl: ENST00000380421
MIM: 603329
neXtProt: NX_O00625
Antibodypedia: O00625 (may not find the protein thus also not any antibody)
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