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 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2022-05-14 09:57:26

-  Sequence and Links to Tools and Databases
Genomic Sequence (chrX:15,384,799-15,493,333)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSCGAPEnsemblEntrez GeneExonPrimerGencode

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Pirin; EC=; 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.

-  MalaCards Disease Associations
  MalaCards Gene Search: PIR
Diseases sorted by gene-association score: histrionic personality disorder (17), schizoid personality disorder (16), narcissistic personality disorder (12), phobic disorder (12), cyclothymic disorder (12), obsessive-compulsive personality disorder (9), extratemporal epilepsy (8), vestibulocochlear nerve disease (7), vestibular neuronitis (7), dysthymic disorder (6), chilblain lupus (6), separation anxiety disorder (6), agoraphobia (6), acrocallosal syndrome (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.80 RPKM in Bladder
Total median expression: 281.69 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.50196-0.273 Picture PostScript Text
3' UTR -36.40205-0.178 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012093 - Pirin
IPR008778 - Pirin_C_dom
IPR003829 - Pirin_N_dom
IPR014710 - RmlC-like_jellyroll
IPR011051 - RmlC_Cupin

Pfam Domains:
PF02678 - Pirin
PF05726 - Pirin C-terminal cupin domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1J1L - X-ray MuPIT 3ACL - X-ray MuPIT

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
Protein SequenceProtein Sequence    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003712 transcription cofactor activity
GO:0005515 protein binding
GO:0008127 quercetin 2,3-dioxygenase activity
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding
GO:0051213 dioxygenase activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007586 digestion
GO:0030099 myeloid cell differentiation
GO:0030224 monocyte differentiation
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol

-  Descriptions from all associated GenBank mRNAs
  AX740234 - Sequence 1 from Patent EP1283268.
AK309656 - Homo sapiens cDNA, FLJ99697.
LF211723 - JP 2014500723-A/19226: Polycomb-Associated Non-Coding RNAs.
MA447300 - JP 2018138019-A/19226: Polycomb-Associated Non-Coding RNAs.
BC002517 - Homo sapiens pirin (iron-binding nuclear protein), mRNA (cDNA clone MGC:2083 IMAGE:3140037), complete cds.
Y07868 - H.sapiens mRNA for Pirin, isolate 17.
Y07867 - H.sapiens mRNA for Pirin, isolate 1.
BT019583 - Homo sapiens Pirin mRNA, complete cds.
BT019584 - Homo sapiens Pirin mRNA, complete cds.
DQ891941 - Synthetic construct clone IMAGE:100004571; FLH181616.01X; RZPDo839F04136D pirin (iron-binding nuclear protein) (PIR) gene, encodes complete protein.
DQ895128 - Synthetic construct Homo sapiens clone IMAGE:100009588; FLH181612.01L; RZPDo839F04135D pirin (iron-binding nuclear protein) (PIR) gene, encodes complete protein.
AB527755 - Synthetic construct DNA, clone: pF1KB7971, Homo sapiens PIR gene for pirin, without stop codon, in Flexi system.
CR541822 - Homo sapiens full open reading frame cDNA clone RZPDo834A0332D for gene PIR, Pirin; complete cds, without stopcodon.
JD091846 - Sequence 72870 from Patent EP1572962.
JD435268 - Sequence 416292 from Patent EP1572962.
BX537579 - Homo sapiens mRNA; cDNA DKFZp686I09185 (from clone DKFZp686I09185).
JD145866 - Sequence 126890 from Patent EP1572962.
JD367111 - Sequence 348135 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_actinYPathway - Y branching of actin filaments

Reactome (by CSHL, EBI, and GO)

Protein O00625 (Reactome details) participates in the following event(s):

R-HSA-8953398 PIR oxygenates quercetin
R-HSA-8935690 Digestion
R-HSA-8963743 Digestion and absorption

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000380420.1, ENST00000380420.2, ENST00000380420.3, ENST00000380420.4, ENST00000380420.5, ENST00000380420.6, ENST00000380420.7, ENST00000380420.8, ENST00000380420.9, NM_003662, O00625, PIR_HUMAN, Q5U0G0, Q6FHD2, uc004cwv.1, uc004cwv.2, uc004cwv.3, uc004cwv.4, uc004cwv.5, uc004cwv.6
UCSC ID: ENST00000380420.10
RefSeq Accession: NM_001018109
Protein: O00625 (aka PIR_HUMAN)
CCDS: CCDS14167.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.