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Aliases for PTTG1IP Gene

Aliases for PTTG1IP Gene

  • PTTG1 Interacting Protein 2 3 5
  • Pituitary Tumor-Transforming Gene Protein-Binding Factor 3 4
  • Pituitary Tumor-Transforming 1 Interacting Protein 2 3
  • PTTG-Binding Factor 3 4
  • C21orf1 3 4
  • C21orf3 3 4
  • PBF 3 4
  • Pituitary Tumor-Transforming Gene 1 Protein-Interacting Protein 3

External Ids for PTTG1IP Gene

Previous HGNC Symbols for PTTG1IP Gene

  • C21orf3
  • C21orf1

Previous GeneCards Identifiers for PTTG1IP Gene

  • GC21M042779
  • GC21M045126
  • GC21M045125
  • GC21M045093
  • GC21M046269
  • GC21M031643

Summaries for PTTG1IP Gene

Entrez Gene Summary for PTTG1IP Gene

  • This gene encodes a single-pass type I integral membrane protein, which binds to pituitary tumor-transforming 1 protein (PTTG1), and facilitates translocation of PTTG1 into the nucleus. Coexpression of this protein and PTTG1 induces transcriptional activation of basic fibroblast growth factor. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2013]

GeneCards Summary for PTTG1IP Gene

PTTG1IP (PTTG1 Interacting Protein) is a Protein Coding gene.

UniProtKB/Swiss-Prot for PTTG1IP Gene

  • May facilitate PTTG1 nuclear translocation.

Gene Wiki entry for PTTG1IP Gene

Additional gene information for PTTG1IP Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTTG1IP Gene

Genomics for PTTG1IP Gene

GeneHancer (GH) Regulatory Elements for PTTG1IP Gene

Promoters and enhancers for PTTG1IP Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J044865 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 672.9 +3.3 3295 11.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 PTTG1IP ITGB2 PWP2 POFUT2 UBE2G2 TRPM2 PIR60294 GC21P044820
GH21J044876 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -6.9 -6903 8 HDGF PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 SLC30A9 POLR2B ZNF766 PTTG1IP PWP2 TRAPPC10 SUMO3 LINC01424 UBE2G2 ENSG00000184441 POFUT2 KRTAP10-6 KRTAP12-2
GH21J044845 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +27.3 27341 2.4 SMAD1 ATF1 ARID4B SIN3A ZNF48 ZNF121 ZNF766 GLIS2 ZNF143 ZFP91 POFUT2 PTTG1IP UBE2G2 ENSG00000184441 PWP2 ITGB2 GC21P044852 PIR32925 GC21P044820
GH21J044916 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.4 -50.7 -50711 16.8 HDGF PKNOX1 CLOCK SMAD1 NEUROD1 SIN3A FEZF1 ZBTB7B IRF4 ZNF207 ITGB2 FAM207A POFUT2 PWP2 UBE2G2 ENSG00000273027 TRPM2 PTTG1IP ITGB2-AS1 ENSG00000184441
GH21J044848 Enhancer 0.8 ENCODE dbSUPER 37 +24.0 24031 3.3 PAF1 SAP130 REST MNT ZNF48 POLR2A SCRT2 RBM22 ZNF8 SMAD4 PIR60294 GC21P044852 PTTG1IP UBE2G2 SUMO3 LINC01424 ADARB1 SSR4P1 SLC19A1 GC21P044820
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PTTG1IP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTTG1IP gene promoter:
  • Brachyury
  • HFH-3
  • FOXI1
  • C/EBPalpha
  • Egr-2
  • c-Jun
  • c-Fos
  • AP-1
  • TBP
  • LCR-F1

Genomic Locations for PTTG1IP Gene

Genomic Locations for PTTG1IP Gene
24,319 bases
Minus strand
24,319 bases
Minus strand

Genomic View for PTTG1IP Gene

Genes around PTTG1IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTTG1IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTTG1IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTTG1IP Gene

Proteins for PTTG1IP Gene

  • Protein details for PTTG1IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Pituitary tumor-transforming gene 1 protein-interacting protein
    Protein Accession:
    Secondary Accessions:
    • B2RDP7
    • D3DSL9
    • Q9NS09

    Protein attributes for PTTG1IP Gene

    180 amino acids
    Molecular mass:
    20324 Da
    Quaternary structure:
    • Interacts with PTTG1.

neXtProt entry for PTTG1IP Gene

Post-translational modifications for PTTG1IP Gene

  • Glycosylation at Asn54 and posLast=4545
  • Modification sites at PhosphoSitePlus

Other Protein References for PTTG1IP Gene

No data available for DME Specific Peptides for PTTG1IP Gene

Domains & Families for PTTG1IP Gene

Gene Families for PTTG1IP Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PTTG1IP Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PTTG1IP: view

No data available for UniProtKB/Swiss-Prot for PTTG1IP Gene

Function for PTTG1IP Gene

Molecular function for PTTG1IP Gene

UniProtKB/Swiss-Prot Function:
May facilitate PTTG1 nuclear translocation.
UniProtKB/Swiss-Prot Induction:
By transcription factor RUNX2.

Phenotypes From GWAS Catalog for PTTG1IP Gene

Gene Ontology (GO) - Molecular Function for PTTG1IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002039 p53 binding IPI 24506068
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PTTG1IP: view
genes like me logo Genes that share phenotypes with PTTG1IP: view

Animal Model Products

miRNA for PTTG1IP Gene

miRTarBase miRNAs that target PTTG1IP

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PTTG1IP Gene

Localization for PTTG1IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTTG1IP Gene

Membrane; Single-pass type I membrane protein. Cytoplasm. Nucleus. Note=According to PubMed:10781616, it is found in the cytoplasm and the nucleus.

Subcellular locations from

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 PTTG1IP gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PTTG1IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 10781616
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 10781616
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PTTG1IP: view

Pathways & Interactions for PTTG1IP Gene

SuperPathways for PTTG1IP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PTTG1IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006606 protein import into nucleus IDA 10781616
GO:0031398 positive regulation of protein ubiquitination IDA 24506068
GO:0043518 negative regulation of DNA damage response, signal transduction by p53 class mediator IMP 24506068
GO:1902254 negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator IMP 24506068
GO:1903364 positive regulation of cellular protein catabolic process IDA 24506068
genes like me logo Genes that share ontologies with PTTG1IP: view

No data available for Pathways by source and SIGNOR curated interactions for PTTG1IP Gene

Drugs & Compounds for PTTG1IP Gene

No Compound Related Data Available

Transcripts for PTTG1IP Gene

mRNA/cDNA for PTTG1IP Gene

Unigene Clusters for PTTG1IP Gene

Pituitary tumor-transforming 1 interacting protein:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTTG1IP Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - -
SP6: - - -
SP8: - - - - - - - -
SP9: - - - - -
SP10: - - - - - - - - - -

Relevant External Links for PTTG1IP Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PTTG1IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTTG1IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PTTG1IP Gene

This gene is overexpressed in Nasal epithelium (45.3) and Urine (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTTG1IP Gene

NURSA nuclear receptor signaling pathways regulating expression of PTTG1IP Gene:


SOURCE GeneReport for Unigene cluster for PTTG1IP Gene:


mRNA Expression by UniProt/SwissProt for PTTG1IP Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PTTG1IP Gene

  • Intestine(4.9)
  • Lung(4.9)
  • Nervous system(4.9)
  • Skin(4.7)
  • Kidney(4.6)
  • Muscle(4.4)
  • Liver(4.2)
  • Pancreas(4.1)
  • Heart(3.3)
  • Eye(2.9)
  • Thyroid gland(2.8)
  • Spleen(2.7)
  • Stomach(2.4)
  • Bone(2.2)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with PTTG1IP: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PTTG1IP Gene

Orthologs for PTTG1IP Gene

This gene was present in the common ancestor of chordates.

Orthologs for PTTG1IP Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PTTG1IP 34 33
  • 99.07 (n)
(Canis familiaris)
Mammalia -- 34
  • 86 (a)
LOC100855485 33
  • 81.59 (n)
-- 34
  • 76 (a)
(Rattus norvegicus)
Mammalia Pttg1ip 33
  • 80.35 (n)
(Ornithorhynchus anatinus)
Mammalia PTTG1IP 34
  • 80 (a)
(Mus musculus)
Mammalia Pttg1ip 16 34 33
  • 77.97 (n)
(Bos Taurus)
Mammalia PTTG1IP 34 33
  • 76.38 (n)
(Monodelphis domestica)
Mammalia PTTG1IP 34
  • 61 (a)
(Gallus gallus)
Aves PTTG1IP 34 33
  • 59.77 (n)
(Anolis carolinensis)
Reptilia PTTG1IP 34
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pttg1ip.2 33
  • 57.93 (n)
(Danio rerio)
Actinopterygii LOC101886260 33
  • 59.32 (n)
pttg1ipb 34
  • 45 (a)
pttg1ipa 34
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 29 (a)
Species where no ortholog for PTTG1IP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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 (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PTTG1IP Gene

Gene Tree for PTTG1IP (if available)
Gene Tree for PTTG1IP (if available)
Evolutionary constrained regions (ECRs) for PTTG1IP: view image

Paralogs for PTTG1IP Gene

No data available for Paralogs for PTTG1IP Gene

Variants for PTTG1IP Gene

Sequence variations from dbSNP and Humsavar for PTTG1IP Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000110094 -- 44,855,432(-) C/A intron_variant
rs1000142997 -- 44,865,535(-) G/C intron_variant
rs1000185625 -- 44,868,043(-) G/A intron_variant
rs1000306069 -- 44,860,896(-) C/T intron_variant
rs1000356957 -- 44,852,731(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PTTG1IP Gene

Variant ID Type Subtype PubMed ID
dgv536n27 CNV gain 19166990
dgv715e201 CNV deletion 23290073
esv2577260 CNV insertion 19546169
esv2723685 CNV deletion 23290073
esv2723686 CNV deletion 23290073
esv2723688 CNV deletion 23290073
esv3647136 CNV loss 21293372
nsv1058550 CNV loss 25217958
nsv1142332 CNV tandem duplication 24896259
nsv459298 CNV loss 19166990
nsv470907 CNV gain 18288195
nsv587813 CNV loss 21841781
nsv587814 CNV gain 21841781

Variation tolerance for PTTG1IP Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.75; 15.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTTG1IP Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTTG1IP Gene

Disorders for PTTG1IP Gene

Additional Disease Information for PTTG1IP

No disorders were found for PTTG1IP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PTTG1IP Gene

Publications for PTTG1IP Gene

  1. Cloning of a novel human putative type Ia integral membrane protein mapping to 21q22.3. (PMID: 9570958) Yaspo ML … Lehrach H (Genomics 1998) 2 3 4 22 58
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 2 3 4 58
  3. A novel binding factor facilitates nuclear translocation and transcriptional activation function of the pituitary tumor-transforming gene product. (PMID: 10781616) Chien W … Pei L (The Journal of biological chemistry 2000) 3 4 22 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Expression of pituitary tumor transforming gene (PTTG) and its binding protein in human astrocytes and astrocytoma cells: function and regulation of PTTG in U87 astrocytoma cells. (PMID: 15178645) Tfelt-Hansen J … Chattopadhyay N (Endocrinology 2004) 3 22 58

Products for PTTG1IP Gene

Sources for PTTG1IP Gene

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