PIR pirin [Homo sapiens (human)] - Gene

Summary

Official Symbol: PIRprovided by HGNC
Official Full Name: pirinprovided by HGNC
Primary source: HGNC:HGNC:30048
See related: Ensembl:ENSG00000087842 MIM:300931; AllianceGenome:HGNC:30048
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: 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]
Expression: Ubiquitous expression in fat (RPKM 9.0), urinary bladder (RPKM 8.0) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xp22.2

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (15384799..15493333, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (14967733..15076309, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (15402921..15511456, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5.
Title: PIWIL1 interacting RNA piR-017061 inhibits pancreatic cancer growth via regulating EFNA5.
Pirin is a nuclear redox-sensitive modulator of autophagy-dependent ferroptosis.
Title: Pirin is a nuclear redox-sensitive modulator of autophagy-dependent ferroptosis.
PIR promotes tumorigenesis of breast cancer by upregulating cell cycle activator E2F1.
Title: PIR promotes tumorigenesis of breast cancer by upregulating cell cycle activator E2F1.
miR-455-5p/PIR axis contributed to cancer cell aggressiveness.
Title: Pirin: a potential novel therapeutic target for castration-resistant prostate cancer regulated by miR-455-5p.
Data suggest that only the Fe(III) form of pirin [not the Fe(II) form] enhances affinity of binding between p65 and DNA in the pirin-p65-DNA supramolecular complex. (pirin = quercetin 2,3-dioxygenase; p65 = RELA proto-oncogene NF-kappaB subunit)
Title: Redox-Specific Allosteric Modulation of the Conformational Dynamics of κB DNA by Pirin in the NF-κB Supramolecular Complex.
Pirin regulates E-cadherin independently of Bcl3-Slug signaling.
Title: Pirin regulates epithelial to mesenchymal transition independently of Bcl3-Slug signaling.
The NRF2 transcription factor binds to this element in vivo and drives the basal PIR expression.
Title: Basal PIR expression in HeLa cells is driven by NRF2 via evolutionary conserved antioxidant response element.
Pirin is a newly identified binding partner of EAF2/U19 capable of down-regulating EAF2/U19 protein and alleviating its inhibition of prostate cancer cell survival/proliferation.
Title: Pirin down-regulates the EAF2/U19 protein and alleviates its growth inhibition in prostate cancer cells.
Data indicate that the R-shaped area composes the interface for pirin-NF-kappaB binding that is responsible for modulation of NF-kappaB's DNA-binding properties.
Title: Pirin is an iron-dependent redox regulator of NF-κB.
pirin may have a relevant role in melanoma progression.
Title: Pirin inhibits cellular senescence in melanocytic cells.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AF020096 (e-PCR)
- UniSTS:41505

DXS207 (e-PCR)
- UniSTS:148265

DXS7169 (e-PCR)
- UniSTS:152404

DXS207 (e-PCR)
- UniSTS:98926

DXS7696 (e-PCR)
- UniSTS:59257

DXS7968 (e-PCR)
- UniSTS:99203

DXS207 (e-PCR)
- UniSTS:148894

SHGC-34929 (e-PCR)
- UniSTS:46252

DXS6727 (e-PCR)
- UniSTS:42166

STS-H69335 (e-PCR)
- UniSTS:15803

SHGC-111483 (e-PCR)
- UniSTS:185041

DXS6757 (e-PCR)
- UniSTS:68338

Readthrough PIR-FIGF

Readthrough gene: PIR-FIGF, Included gene: VEGFD

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables quercetin 2,3-dioxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables quercetin 2,3-dioxygenase activity	IDA Inferred from Direct Assay more info	PubMed
enables quercetin 2,3-dioxygenase activity	TAS Traceable Author Statement more info
enables transcription coregulator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in digestion	TAS Traceable Author Statement more info
involved_in monocyte differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within monocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear body	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: pirin

Names: pirin (iron-binding nuclear protein); probable quercetin 2,3-dioxygenase PIR; probable quercetinase

NP_001018119.1

EC 1.13.11.24

NP_003653.1

EC 1.13.11.24

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012549.2 RefSeqGene

Range

5000..113534

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001018109.3 → NP_001018119.1 pirin

See identical proteins and their annotated locations for NP_001018119.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate, in-frame splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.

Source sequence(s)

AC097625, BC002517, DA686501

Consensus CDS

CCDS14167.1

UniProtKB/Swiss-Prot

O00625, Q5U0G0, Q6FHD2

Related

ENSP00000369785.5, ENST00000380420.10

Conserved Domains (1) summary

COG1741
Location:17 → 275

YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]
NM_003662.4 → NP_003653.1 pirin

See identical proteins and their annotated locations for NP_003653.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

BC002517, DA686501, DT217415, Y07868

Consensus CDS

CCDS14167.1

UniProtKB/Swiss-Prot

O00625, Q5U0G0, Q6FHD2

Related

ENSP00000369786.3, ENST00000380421.3

Conserved Domains (1) summary

COG1741
Location:17 → 275

YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]