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
GeneCardsHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: PIR_HUMAN
DESCRIPTION: RecName: Full=Pirin; EC=1.13.11.24; 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
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-  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     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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.