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    PPAN-P2RY11 PPAN-P2RY11 readthrough [ Homo sapiens (human) ]

    Gene ID: 692312, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PPAN-P2RY11provided by HGNC
    Official Full Name
    PPAN-P2RY11 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:33526
    See related
    Ensembl:ENSG00000243207 AllianceGenome:HGNC:33526
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PPAN; SSF1; BXDC3; P2Y11; Ssf-1; P2RY11
    Summary
    This locus represents naturally occurring read-through transcription between the adjacent PPAN and P2RY11 genes. Alternative splicing results in two transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. This transcript is found to be ubiquitously expressed and is up-regulated by agents inducing granulocytic differentiation. However, its functional significance in vivo remains unclear. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in spleen (RPKM 8.0), lymph node (RPKM 6.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See PPAN-P2RY11 in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10106362..10115372)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10232571..10241581)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10217038..10226048)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene complement component 3 precursor pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10185500-10185601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10052 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10053 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10054 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10055 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13937 Neighboring gene angiopoietin like 6 Neighboring gene shiftless antiviral inhibitor of ribosomal frameshifting Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10216675-10217318 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:10218607-10219250 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10220162-10220743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13939 Neighboring gene Sharpr-MPRA regulatory region 3609 Neighboring gene small nucleolar RNA, C/D box 105B Neighboring gene small nucleolar RNA, C/D box 105 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10229321-10230077 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10230078-10230833 Neighboring gene peter pan homolog Neighboring gene purinergic receptor P2Y11 Neighboring gene eukaryotic translation initiation factor 3 subunit G Neighboring gene ReSE screen-validated silencer GRCh37_chr19:10243570-10243866 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:10246117-10247316 Neighboring gene DNA methyltransferase 1 Neighboring gene origin of replication in DNMT1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10294611-10295111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10057 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13940 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:10310838-10311338 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 10 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Cloning of a human purinergic P2Y receptor coupled to phospholipase C and adenylyl cyclase. Communi D, et al. J Biol Chem, 1997 Dec 19. PMID 9405388
    2. Cotranscription and intergenic splicing of human P2Y11 and SSF1 genes. Communi D, et al. J Biol Chem, 2001 May 11. PMID 11278528
    3. Extracellular adenine nucleotides inhibit the activation of human CD4+ T lymphocytes. Duhant X, et al. J Immunol, 2002 Jul 1. PMID 12077223
    4. Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic. Han F, et al. PLoS Genet, 2013 Oct. PMID 24204295, Free PMC Article
    5. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

    See all (31) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide analysis of narcolepsy in China implicates novel immune loci and reveals changes in association prior to versus after the 2009 H1N1 influenza pandemic.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, PPAN-P2RY11 read through, is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PPAN-P2RY11 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    General protein information

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    Preferred Names
    PPAN-P2RY11 protein
    Names
    Brix domain-containing protein 3
    P2Y purinoceptor 11
    PPAN-P2RY11 readthrough transcript
    Peter Pan homolog
    SSF1/P2Y11 protein
    Suppressor of SWI4 1 homolog

    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_001040664.3 → NP_001035754.1  PPAN-P2RY11 protein isoform 1

      See identical proteins and their annotated locations for NP_001035754.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1), which is a fusion of the PPAN and P2RY11 products.
      Source sequence(s)
      AC020931, AJ300588
      UniProtKB/TrEMBL
      A0A0B4J1V8
      Related
      ENSP00000377385.4, ENST00000393796.4
      Conserved Domains (3) summary
      pfam00001
      Location:466 → 741
      7tm_1; 7 transmembrane receptor (rhodopsin family)
      pfam04427
      Location:36 → 285
      Brix; Brix domain
      cl00935
      Location:270 → 341
      Brix; Brix domain

    2. NM_001198690.2 → NP_001185619.1  PPAN-P2RY11 protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site that results in a frameshift in the 3' coding region, compared to variant 1. The resulting isoform (2) represents a fusion of the PPAN product to a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC020931, BC171852
      UniProtKB/TrEMBL
      A0A0A6YYI3
      Related
      ENSP00000411918.1, ENST00000428358.5
      Conserved Domains (2) summary
      pfam04427
      Location:36 → 285
      Brix; Brix domain
      cl00935
      Location:270 → 341
      Brix; Brix domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      10106362..10115372
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10232571..10241581
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

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