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-independe... See more...

Aliases for PPAN Gene

Aliases for PPAN Gene

  • Peter Pan Homolog 2 3 4 5
  • BXDC3 2 3 4
  • SSF1 2 3 4
  • Brix Domain-Containing Protein 3 3 4
  • Suppressor Of SWI4 1 Homolog 3 4
  • SSF2 2 3
  • SSF 2 3
  • Peter Pan (Drosophila) Homolog 2
  • Peter Pan Homolog (Drosophila) 2
  • Homolog Of S. Cerevisiae SSF1 3
  • Second-Step Splicing Factor 1 3
  • Suppressor Of Sterile Four 1 3
  • SSF-1 3
  • Ssf-1 4
  • PPAN 5

External Ids for PPAN Gene

Previous GeneCards Identifiers for PPAN Gene

  • GC19P010338
  • GC19P010439
  • GC19P010062
  • GC19P010077
  • GC19P010216
  • GC19P009819

Summaries for PPAN Gene

Entrez Gene Summary for PPAN Gene

  • 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]

GeneCards Summary for PPAN Gene

PPAN (Peter Pan Homolog) is a Protein Coding gene. Diseases associated with PPAN include Kummell's Disease and Narcolepsy. An important paralog of this gene is PPAN-P2RY11.

UniProtKB/Swiss-Prot Summary for PPAN Gene

Gene Wiki entry for PPAN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPAN Gene

Genomics for PPAN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPAN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J010100 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 649.4 -1.8 -1836 8.3 SP1 CREB1 GATAD2A HNRNPL ZNF629 TFE3 ZNF512 RFX1 SIX5 NFKBIZ PPAN ANGPTL6 PPAN-P2RY11 ILF3 ZNF699 LOC100419831 ZNF317 KRI1 FBXL12 ZNF559
GH19J010109 Promoter 0.5 EPDnew 600.7 +3.5 3522 0.1 RBFOX2 POLR2A P2RY11 PPAN SNORD105B ANGPTL6 PPAN-P2RY11 SNORD105
GH19J010379 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 66.6 +274.3 274278 2.2 SP1 HNRNPL CREB1 GATAD2A TEAD4 PRDM10 ZNF629 RFX1 LEF1 IKZF1 TYK2 lnc-PDE4A-3 lnc-CDC37-1 ILF3 KRI1 FBXL12 PPAN RAVER1 ZNF561 LOC100419831
GH19J010415 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 63.2 +314.7 314693 10.6 ZNF221 BRCA1 RNF2 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PDE4A CDC37 ILF3 ZNF266 KRI1 LOC100419831 DNMT1 RAVER1 FBXL12 PPAN
GH19J010110 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 50.1 +6.8 6805 5.2 SP1 HNRNPL CTCF ZBTB33 PRDM10 ZNF692 POLR2A BACH1 STAT3 ZNF143 P2RY11 piR-54092 ILF3 ZNF699 ZNF266 ZNF559 ZNF317 DNMT1 LOC100419831 PPAN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPAN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPAN

Top Transcription factor binding sites by QIAGEN in the PPAN gene promoter:
  • AML1a
  • AREB6
  • c-Myc
  • Egr-2
  • GATA-2
  • HOXA5
  • LCR-F1
  • Max
  • Zic3

Genomic Locations for PPAN Gene

Genomic Locations for PPAN Gene
chr19:10,106,223-10,112,012
(GRCh38/hg38)
Size:
5,790 bases
Orientation:
Plus strand
chr19:10,216,899-10,225,414
(GRCh37/hg19)
Size:
8,516 bases
Orientation:
Plus strand

Genomic View for PPAN Gene

Genes around PPAN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPAN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPAN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPAN Gene

Proteins for PPAN Gene

  • Protein details for PPAN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NQ55-SSF1_HUMAN
    Recommended name:
    Suppressor of SWI4 1 homolog
    Protein Accession:
    Q9NQ55
    Secondary Accessions:
    • C9J3F9
    • Q9BW97
    • Q9H170

    Protein attributes for PPAN Gene

    Size:
    473 amino acids
    Molecular mass:
    53194 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • A chimeric transcript, characterized by the first third of PPAN exon 12 joined to P2RY11 exon 2, has been detected. It is possibly produced by trans-splicing. The chimeric transcript is widely expressed and can be induced by retinoic acid during the granulocytic differentiation of the HL-60 cell line. The resulting chimeric protein shows a much lower activity than the non-chimeric P2RY11 gene product, but qualitatively indistinguishable (PubMed:11278528).

    Alternative splice isoforms for PPAN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPAN Gene

Post-translational modifications for PPAN Gene

  • Ubiquitination at Lys212 and Lys217
  • Modification sites at PhosphoSitePlus

Other Protein References for PPAN Gene

No data available for DME Specific Peptides for PPAN Gene

Domains & Families for PPAN Gene

Gene Families for PPAN Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PPAN Gene

InterPro:
Blocks:
  • Brix domain
ProtoNet:

Suggested Antigen Peptide Sequences for PPAN Gene

GenScript: Design optimal peptide antigens:
  • Peter Pan homolog (SSF1_HUMAN)
genes like me logo Genes that share domains with PPAN: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PPAN Gene

Function for PPAN Gene

Molecular function for PPAN Gene

UniProtKB/Swiss-Prot Function:
May have a role in cell growth.

Phenotypes From GWAS Catalog for PPAN Gene

Gene Ontology (GO) - Molecular Function for PPAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0019843 rRNA binding IBA 21873635
genes like me logo Genes that share ontologies with PPAN: view
genes like me logo Genes that share phenotypes with PPAN: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPAN

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPAN Gene

Localization for PPAN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPAN Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPAN gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PPAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 15302935
GO:0005730 nucleolus IEA --
GO:0030687 preribosome, large subunit precursor IBA 21873635
genes like me logo Genes that share ontologies with PPAN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PPAN Gene

Pathways & Interactions for PPAN Gene

PathCards logo

SuperPathways for PPAN Gene

No Data Available

Gene Ontology (GO) - Biological Process for PPAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000027 ribosomal large subunit assembly IBA 21873635
genes like me logo Genes that share ontologies with PPAN: view

No data available for Pathways by source and SIGNOR curated interactions for PPAN Gene

Drugs & Compounds for PPAN Gene

No Compound Related Data Available

Transcripts for PPAN Gene

mRNA/cDNA for PPAN Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPAN

Alternative Splicing Database (ASD) splice patterns (SP) for PPAN Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b
SP1: - - - -
SP2: - - -
SP3: -
SP4: - - -
SP5: - -
SP6: - - -
SP7: -
SP8:
SP9:

Relevant External Links for PPAN Gene

GeneLoc Exon Structure for
PPAN

Expression for PPAN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPAN Gene

Protein differential expression in normal tissues from HIPED for PPAN Gene

This gene is overexpressed in Lung (19.9), Peripheral blood mononuclear cells (12.8), Liver (9.0), and CD8 Tcells (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPAN Gene



Protein tissue co-expression partners for PPAN Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPAN

mRNA Expression by UniProt/SwissProt for PPAN Gene:

Q9NQ55-SSF1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for PPAN Gene

  • Skin(4.5)
  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PPAN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPAN Gene

Orthologs for PPAN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPAN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PPAN 30 31
  • 99.22 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia PPAN 30
  • 84.22 (n)
P2RY11 31
  • 81 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia PPAN 30
  • 83.15 (n)
PPAN-P2RY11 31
  • 75 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ppan 30 17 31
  • 79.69 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ppan 30
  • 79.09 (n)
Oppossum
(Monodelphis domestica)
Mammalia PPAN 31
  • 65 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia PPAN 31
  • 58 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ppan 30
  • 65.16 (n)
MGC76273 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7873 30
Zebrafish
(Danio rerio)
Actinopterygii ppan 30 31
  • 63.27 (n)
OneToMany
Dr.15061 30
Fruit Fly
(Drosophila melanogaster)
Insecta ppan 30 31 32
  • 56.54 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004556 30
  • 48.41 (n)
Worm
(Caenorhabditis elegans)
Secernentea lpd-6 31
  • 25 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL040W 30
  • 52.24 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C14586g 30
  • 47.26 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSF1 30 31
  • 45.59 (n)
ManyToMany
SSF2 31
  • 32 (a)
ManyToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PPAN 30
  • 50.93 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0343700 30
  • 48.43 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04503 30
  • 52.4 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC1B9.03c 30
  • 44.8 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2660 31
  • 41 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3479 30
Species where no ortholog for PPAN was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PPAN Gene

ENSEMBL:
Gene Tree for PPAN (if available)
TreeFam:
Gene Tree for PPAN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPAN: view image

Paralogs for PPAN Gene

Paralogs for PPAN Gene

genes like me logo Genes that share paralogs with PPAN: view

Variants for PPAN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPAN Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
779371 Benign: not provided 10,111,734(+) G/A MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs12460842 Association: Cataplexy and narcolepsy 10,111,519(+) A/G THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs1551570 Association: Cataplexy and narcolepsy 10,107,354(+) C/T INTRON_VARIANT
rs11559188 - p.Gln408Arg
rs2305793 - p.Gly358Val

Additional dbSNP identifiers (rs#s) for PPAN Gene

Structural Variations from Database of Genomic Variants (DGV) for PPAN Gene

Variant ID Type Subtype PubMed ID
nsv833743 CNV loss 17160897

Variation tolerance for PPAN Gene

Residual Variation Intolerance Score: 68.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.36; 81.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPAN Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPAN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPAN Gene

Disorders for PPAN Gene

MalaCards: The human disease database

(5) MalaCards diseases for PPAN Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
kummell's disease
  • kummell disease
narcolepsy
  • narcolepsy, without cataplexy
enterocele
  • vaginal enterocele
anterior cerebral artery infarction
  • infarction, anterior cerebral artery
prolapse of female genital organ
- elite association - COSMIC cancer census association via MalaCards
Search PPAN in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with PPAN: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPAN Gene

Publications for PPAN Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  2. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4
  3. Cotranscription and intergenic splicing of human P2Y11 and SSF1 genes. (PMID: 11278528) Communi D … Boeynaems JM (The Journal of biological chemistry 2001) 3 4
  4. Cloning, genomic organization, and tissue distribution of human Ssf-1. (PMID: 10944437) Suarez-Huerta N … Communi D (Biochemical and biophysical research communications 2000) 3 4
  5. Identification and validation of a gene involved in anchorage-independent cell growth control using a library of randomized hairpin ribozymes. (PMID: 10873382) Welch PJ … Barber JR (Genomics 2000) 2 3

Products for PPAN Gene

  • Signalway Proteins for PPAN

Sources for PPAN Gene