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    Pir pirin [ Mus musculus (house mouse) ]

    Gene ID: 69656, updated on 17-Mar-2024

    Summary

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    Official Symbol
    Pirprovided by MGI
    Official Full Name
    pirinprovided by MGI
    Primary source
    MGI:MGI:1916906
    See related
    Ensembl:ENSMUSG00000031379 AllianceGenome:MGI:1916906
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Pirnl; 2310042L19Rik
    Summary
    Enables quercetin 2,3-dioxygenase activity. Acts upstream of or within myeloid cell differentiation. Predicted to be located in cytosol. Predicted to be active in nucleus. Orthologous to human PIR (pirin). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bladder adult (RPKM 6.3), liver E14 (RPKM 3.9) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    X F5; X 76.12 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (163052427..163156009)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (164269431..164373013)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_48236 Neighboring gene angiotensin converting enzyme 2 Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene predicted gene, 19251 Neighboring gene STARR-seq mESC enhancer starr_48237 Neighboring gene predicted gene, 46692 Neighboring gene predicted gene, 57673 Neighboring gene predicted gene, 22023 Neighboring gene STARR-seq mESC enhancer starr_48238 Neighboring gene vascular endothelial growth factor D Neighboring gene CapStarr-seq enhancer MGSCv37_chrX:160844233-160844342 Neighboring gene STARR-seq mESC enhancer starr_48240 Neighboring gene STARR-positive B cell enhancer ABC_E269 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Putative proto-oncogene Pir expression is significantly up-regulated in the spleen and kidney of cytosolic superoxide dismutase-deficient mice. Brzóska K, et al. Redox Rep, 2011. PMID 21801495, Free PMC Article
    2. Pirin downregulation is a feature of AML and leads to impairment of terminal myeloid differentiation. Licciulli S, et al. Leukemia, 2010 Feb. PMID 20010624
    3. Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans. Calvo SE, et al. Proc Natl Acad Sci U S A, 2009 May 5. PMID 19372376, Free PMC Article
    4. Phenotypic annotation of the mouse X chromosome. Cox BJ, et al. Genome Res, 2010 Aug. PMID 20548051, Free PMC Article
    5. Identification of pirin, a novel highly conserved nuclear protein. Wendler WM, et al. J Biol Chem, 1997 Mar 28. PMID 9079676

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Pirin Inhibits FAS-Mediated Apoptosis to Support Colorectal Cancer Survival.
      Title: Pirin Inhibits FAS-Mediated Apoptosis to Support Colorectal Cancer Survival.
    2. Sod1(-/-) mice have a significantly elevated level of Pir mRNA in the spleen and kidney but not in the liver, heart, or/and brain.
      Title: Putative proto-oncogene Pir expression is significantly up-regulated in the spleen and kidney of cytosolic superoxide dismutase-deficient mice.
    3. Includes the study of an upstream ORF in this gene, and shows that it functions to reduce protein levels by ~38%.
      Title: Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dioxygenase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables oxidoreductase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables quercetin 2,3-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables quercetin 2,3-dioxygenase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transcription coregulator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in monocyte differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within monocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    acts_upstream_of_or_within myeloid cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    pirin
    Names
    iron-binding nuclear protein
    pirin like
    probable quercetin 2,3-dioxygenase PIR
    probable quercetinase
    NP_001288331.1
    NP_081429.1
    XP_036017982.1
    XP_036017983.1

    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.

    mRNA and Protein(s)

    1. NM_001301402.1 → NP_001288331.1  pirin isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon in the 5' region, which results in translation initiation at a downstream in-frame start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL671706, AL732475
      Conserved Domains (3) summary
      COG1741
      Location:1 → 203
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]
      pfam05726
      Location:99 → 205
      Pirin_C; Pirin C-terminal cupin domain
      cl21464
      Location:1 → 46
      cupin_like; Conserved domain found in cupin and related proteins

    2. NM_027153.3 → NP_081429.1  pirin isoform 1

      See identical proteins and their annotated locations for NP_081429.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK009757, AL732475, BY718294
      Consensus CDS
      CCDS30520.1
      UniProtKB/Swiss-Prot
      A2AIH9, Q3UAN0, Q8CIE9, Q9D711
      UniProtKB/TrEMBL
      A2AIH8
      Related
      ENSMUSP00000033749.8, ENSMUST00000033749.9
      Conserved Domains (1) summary
      COG1741
      Location:17 → 275
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      163052427..163156009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162089.1 → XP_036017982.1  pirin isoform X1

      UniProtKB/Swiss-Prot
      A2AIH9, Q3UAN0, Q8CIE9, Q9D711
      UniProtKB/TrEMBL
      A2AIH8
      Related
      ENSMUSP00000118045.2, ENSMUST00000145412.8
      Conserved Domains (1) summary
      COG1741
      Location:17 → 275
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]

    2. XM_036162090.1 → XP_036017983.1  pirin isoform X2

      UniProtKB/TrEMBL
      A2AIH8
      Conserved Domains (1) summary
      COG1741
      Location:17 → 260
      YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D711.1 GenPept UniProtKB/Swiss-Prot:Q9D711

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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