U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    PIR pirin [ Homo sapiens (human) ]

    Gene ID: 8544, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PIR in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (15384799..15493333, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (14967733..15076309, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15402921..15511456, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29446 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29447 Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A Neighboring gene PIR-FIGF readthrough Neighboring gene vascular endothelial growth factor D Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20672 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:15510866-15511368 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:15511369-15511872 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:15537807-15538079 Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene angiotensin converting enzyme 2 Neighboring gene HNRNPDL pseudogene 5 Neighboring gene dACE2 interferon-inducible promoter region Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:15617708-15618907 Neighboring gene ACE2 promoter region Neighboring gene ACE2 divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    pirin
    Names
    pirin (iron-binding nuclear protein)
    probable quercetin 2,3-dioxygenase PIR
    probable quercetinase
    NP_001018119.1
    NP_003653.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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

    1. NG_012549.2 RefSeqGene

      Range
      5000..113534
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001018109.3NP_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:17275
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]
    2. NM_003662.4NP_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:17275
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      15384799..15493333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      14967733..15076309 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)