Human Gene PIR (ENST00000380420.10) from GENCODE V41
Description: Homo sapiens pirin (PIR), transcript variant 1, mRNA. (from RefSeq NM_003662) RefSeq Summary (NM_001018109): 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]. Gencode Transcript: ENST00000380420.10 Gencode Gene: ENSG00000087842.11 Transcript (Including UTRs) Position: hg38 chrX:15,384,799-15,493,333 Size: 108,535 Total Exon Count: 10 Strand: - Coding Region Position: hg38 chrX:15,385,004-15,491,257 Size: 106,254 Coding Exon Count: 9
ID:PIR_HUMAN DESCRIPTION: RecName: Full=Pirin; EC=126.96.36.199; AltName: Full=Probable quercetin 2,3-dioxygenase PIR; Short=Probable quercetinase; FUNCTION: Possible transcriptional coregulator. May contribute to the regulation of cellular processes via its interaction with BCL3. May be required for efficient terminal myeloid maturation of hematopoietic cells. May play a role in the regulation of cell migration. May promote apoptosis when overexpressed. Has quercetin 2,3-dioxygenase activity (in vitro). CATALYTIC ACTIVITY: Quercetin + O(2) = 2-(3,4- dihydroxybenzoyloxy)-4,6-dihydroxybenzoate + CO + H(+). COFACTOR: Binds 1 iron ion per subunit. ENZYME REGULATION: Inhibited by kojic acid, sodium diethyldithiocarbamate and 1,10-phenanthroline monohydrochloride. PATHWAY: Flavonoid metabolism; quercetin degradation. SUBUNIT: May interact with NF1/CTF1. Interacts with BCL3. Identified in a complex comprised of PIR, BLC3, NFKB1 and target DNA. SUBCELLULAR 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. 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. POLYMORPHISM: 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. SIMILARITY: Belongs to the pirin family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O00625
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.