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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]
PIR (Pirin) is a Protein Coding gene. Diseases associated with PIR include Paranoid Personality Disorder and Exhibitionism. Among its related pathways are B Cell Receptor Signaling Pathway (sino) and Apoptosis and Autophagy. Gene Ontology (GO) annotations related to this gene include transcription coregulator activity and quercetin 2,3-dioxygenase activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003712 | transcription coregulator activity | TAS,IMP | 23716661 |
GO:0005515 | protein binding | IPI | 10362352 |
GO:0008127 | quercetin 2,3-dioxygenase activity | TAS | -- |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA,IDA | 20711196 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | TAS,IDA | 9079676 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA,IDA | 20089166 |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Apoptosis and Autophagy | ||
2 | NF-kappaB Signaling | ||
3 | B Cell Receptor Signaling Pathway (sino) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006366 | transcription by RNA polymerase II | TAS | 9079676 |
GO:0007586 | digestion | TAS | -- |
GO:0030099 | myeloid cell differentiation | IEA | -- |
GO:0030224 | monocyte differentiation | IBA,IMP | 20010624 |
GO:0055114 | oxidation-reduction process | IEA | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
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2-(3,4-Dihydroxybenzoyloxy)-4,6-dihydroxybenzoate |
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Hydrogen Ion |
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ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 |
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SP1: | - | ||||||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PIR 30 31 |
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OneToOne | |
Dog (Canis familiaris) |
Mammalia | PIR 30 31 |
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OneToOne | |
Cow (Bos Taurus) |
Mammalia | PIR 30 31 |
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OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pir 30 17 31 |
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OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pir 30 |
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Platypus (Ornithorhynchus anatinus) |
Mammalia | PIR 31 |
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OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PIR 31 |
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OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PIR 31 |
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OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pir 30 |
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African clawed frog (Xenopus laevis) |
Amphibia | MGC53094 30 |
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Zebrafish (Danio rerio) |
Actinopterygii | pir 30 31 |
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OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.395 30 |
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K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D01243g 30 |
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Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G43120 30 |
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Rice (Oryza sativa) |
Liliopsida | Os03g0845000 30 |
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Os.7536 30 |
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Barley (Hordeum vulgare) |
Liliopsida | Hv.6878 30 |
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Wheat (Triticum aestivum) |
Liliopsida | Ta.25447 30 |
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Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1684 31 |
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OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03369 30 |
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SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
717759 | Benign: not provided | 15,456,011(-) | C/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
717762 | Benign: not provided | 15,456,039(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
775779 | Benign: not provided | 15,390,251(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
778979 | Benign: not provided | 15,397,459(-) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs34104000 | - | p.Val228Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2228e212 | CNV | loss | 25503493 |
esv2669590 | CNV | deletion | 23128226 |
esv2739977 | CNV | deletion | 23290073 |
esv3380907 | CNV | insertion | 20981092 |
nsv515969 | CNV | gain | 19592680 |
nsv518666 | CNV | loss | 19592680 |
nsv521301 | CNV | gain | 19592680 |
nsv528343 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
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paranoid personality disorder |
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exhibitionism |
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obsessive-compulsive personality disorder |
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retinitis pigmentosa 42 |
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histrionic personality disorder |
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