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PIR pirin [ Homo sapiens (human) ]

Gene ID: 8544, updated on 7-Dec-2018

Summary

Official Symbol
PIRprovided by HGNC
Official Full Name
pirinprovided by HGNC
Primary source
HGNC:HGNC:30048
See related
Ensembl:ENSG00000087842 MIM:300931
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

Genomic context

See PIR in Genome Data Viewer
Location:
Xp22.2
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (15384799..15493588, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (15402921..15511711, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol glycan anchor biosynthesis class A Neighboring gene PIR-FIGF readthrough Neighboring gene vascular endothelial growth factor D Neighboring gene angiotensin I converting enzyme 2 Neighboring gene BMX non-receptor tyrosine kinase Neighboring gene uncharacterized LOC104798195

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 FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough PIR-FIGF

Readthrough gene: PIR-FIGF, Included gene: VEGFD

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
quercetin 2,3-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
quercetin 2,3-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
quercetin 2,3-dioxygenase activity TAS
Traceable Author Statement
more info
 
transcription coregulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
digestion TAS
Traceable Author Statement
more info
 
monocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
monocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_012549.1 RefSeqGene

    Range
    4754..113544
    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
    UniProtKB/TrEMBL
    A0A024RBX6
    Related
    ENSP00000369785.5, ENST00000380420.9
    Conserved Domains (3) summary
    COG1741
    Location:17275
    YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]
    pfam02678
    Location:21118
    Pirin; Pirin
    pfam05726
    Location:171277
    Pirin_C; Pirin C-terminal cupin domain
  2. NM_003662.3NP_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
    UniProtKB/TrEMBL
    A0A024RBX6
    Related
    ENSP00000369786.3, ENST00000380421.3
    Conserved Domains (3) summary
    COG1741
    Location:17275
    YhaK; Redox-sensitive bicupin YhaK, pirin superfamily [General function prediction only]
    pfam02678
    Location:21118
    Pirin; Pirin
    pfam05726
    Location:171277
    Pirin_C; Pirin C-terminal cupin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    15384799..15493588 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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