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    PPAN peter pan homolog [ Homo sapiens (human) ]

    Gene ID: 56342, updated on 18-Sep-2024

    Summary

    Official Symbol
    PPANprovided by HGNC
    Official Full Name
    peter pan homologprovided by HGNC
    Primary source
    HGNC:HGNC:9227
    See related
    Ensembl:ENSG00000130810 MIM:607793; AllianceGenome:HGNC:9227
    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
    Also known as
    SSF; SSF1; SSF2; BXDC3; SSF-1
    Summary
    The protein encoded by this gene is an evolutionarily conserved protein similar to yeast SSF1 as well as to the gene product of the Drosophila gene peter pan (ppan). SSF1 is known to be involved in the second step of mRNA splicing. Both SSF1 and ppan are essential for cell growth and proliferation. Exogenous expression of this gene was reported to reduce the anchorage-independent growth of some tumor cells. Read-through transcription of this gene with P2RY11/P2Y(11), an adjacent downstream gene that encodes an ATP receptor, has been found. These read-through transcripts are ubiquitously present and up-regulated during granulocyte differentiation. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in appendix (RPKM 9.7), spleen (RPKM 9.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PPAN in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (10106223..10112012)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (10232432..10238221)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (10216899..10222688)

    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 angiopoietin like 6 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13937 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 PPAN-P2RY11 readthrough 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 105 Neighboring gene small nucleolar RNA, C/D box 105B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10229321-10230077 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:10230078-10230833 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

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    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

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Rev rev HIV-1 Rev interacting protein, peter pan homolog (PPAN), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with PPAN is increased by RRE PubMed
    nucleocapsid gag HIV-1 NC downregulates peter pan homolog (Drosophila) in HEK 293T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Readthrough PPAN-P2RY11

    Readthrough gene: PPAN-P2RY11, Included gene: P2RY11

    Clone Names

    • MGC14226, MGC45852

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables rRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in rRNA processing IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of preribosome, large subunit precursor IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    suppressor of SWI4 1 homolog
    Names
    brix domain-containing protein 3
    homolog of S. cerevisiae SSF1
    second-step splicing factor 1
    suppressor of sterile four 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_051640.1 RefSeqGene

      Range
      5140..10790
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001346139.1NP_001333068.1  suppressor of SWI4 1 homolog isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is 1 aa shorter compared to isoform 1.
      Source sequence(s)
      AC020931
    2. NM_001346141.1NP_001333070.1  suppressor of SWI4 1 homolog isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC020931
      Consensus CDS
      CCDS86698.1
      UniProtKB/TrEMBL
      A8MV53
      Related
      ENSP00000377382.1, ENST00000393793.5
    3. NM_020230.7NP_064615.3  suppressor of SWI4 1 homolog isoform 1

      See identical proteins and their annotated locations for NP_064615.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC020931, BC033202
      Consensus CDS
      CCDS12225.1
      UniProtKB/Swiss-Prot
      C9J3F9, Q9BW97, Q9NQ55
      Related
      ENSP00000253107.7, ENST00000253107.12
      Conserved Domains (2) summary
      smart00879
      Location:32201
      Brix; The Brix domain is found in a number of eukaryotic proteins
      cl00935
      Location:270341
      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
      10106223..10112012
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      10232432..10238221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)