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Aliases for PTTG1IP Gene

Aliases for PTTG1IP Gene

  • PTTG1 Interacting Protein 2 3
  • Pituitary Tumor-Transforming 1 Interacting Protein 2 3 5
  • Pituitary Tumor-Transforming Gene Protein-Binding Factor 3 4
  • 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. Diseases associated with PTTG1IP include Estrogen-Receptor Positive Breast Cancer. GO annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot for PTTG1IP Gene

  • May facilitate PTTG1 nuclear translocation.

Gene Wiki entry 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

Regulatory Elements for PTTG1IP Gene

Enhancers for PTTG1IP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G044865 2.1 FANTOM5 Ensembl ENCODE dbSUPER 22.8 +3.3 3295 11.1 CREB3L1 AGO1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 ZNF263 SP3 PTTG1IP ENSG00000215447 PWP2 ENSG00000184441 ITGB2 UBE2G2 TRPM2 PIR60294
GH21G044845 1.9 FANTOM5 Ensembl ENCODE dbSUPER 21.9 +27.3 27341 2.4 ATF1 CREB3L1 AGO1 ARID4B SIN3A ZNF48 ZNF121 ZNF766 GLIS2 KLF13 PTTG1IP ITGB2 GC21P044852 PIR32925
GH21G044876 2 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -6.9 -6904 8.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ARID4B DMAP1 YY1 PTTG1IP SUMO3 LINC01424 UBE2G2 ENSG00000215447 KRTAP10-6 KRTAP12-2 KRTAP10-11 KRTAP12-1 ITGB2
GH21G044848 1 ENCODE dbSUPER 37 +24.0 24031 3.3 FOXA2 SAP130 ZNF48 CTBP1 POLR2A SCRT2 FOS KLF8 PAF1 MNT PTTG1IP UBE2G2 SUMO3 LINC01424 ADARB1 SSR4P1 SLC19A1 GC21P044852 PIR60294
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PTTG1IP on UCSC Golden Path with GeneCards custom track

Promoters for PTTG1IP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000300654 1803 201 SOX13 KLF1 MXI1 SAP130 TAF1 ARID4B SIN3A KLF17 MAX RAD21

Genomic Location for PTTG1IP Gene

44,849,585 bp from pter
44,873,903 bp from pter
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 Asn45 and Asn54
  • Modification sites at PhosphoSitePlus

Other Protein References for PTTG1IP Gene

Antibody Products

  • Abcam antibodies for PTTG1IP
  • Cloud-Clone Corp. Antibodies for PTTG1IP

No data available for DME Specific Peptides for PTTG1IP Gene

Domains & Families for PTTG1IP Gene

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 Gene Families and 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.

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

Phenotypes for PTTG1IP Gene

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

Animal Model Products

CRISPR Products

miRNA for PTTG1IP Gene

miRTarBase miRNAs that target PTTG1IP

Inhibitory RNA Products

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

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,IDA 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

Unigene Clusters for PTTG1IP Gene

Pituitary tumor-transforming 1 interacting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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, PaxDb, 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(2.9)
  • Spleen(2.7)
  • Stomach(2.4)
  • Bone(2.2)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with PTTG1IP: view

Primer Products

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 35
  • 99.07 (n)
(Canis familiaris)
Mammalia -- 35
  • 86 (a)
LOC100855485 34
  • 81.59 (n)
-- 35
  • 76 (a)
(Rattus norvegicus)
Mammalia Pttg1ip 34
  • 80.35 (n)
(Ornithorhynchus anatinus)
Mammalia PTTG1IP 35
  • 80 (a)
(Mus musculus)
Mammalia Pttg1ip 34 16 35
  • 77.97 (n)
(Bos Taurus)
Mammalia PTTG1IP 34 35
  • 76.38 (n)
(Monodelphis domestica)
Mammalia PTTG1IP 35
  • 61 (a)
(Gallus gallus)
Aves PTTG1IP 34 35
  • 59.77 (n)
(Anolis carolinensis)
Reptilia PTTG1IP 35
  • 66 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pttg1ip.2 34
  • 57.93 (n)
(Danio rerio)
Actinopterygii LOC101886260 34
  • 59.32 (n)
pttg1ipb 35
  • 45 (a)
pttg1ipa 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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 Sequence Context AA Info Type
rs1000110094 -- 44,855,432(+) CCCAC(A/C)AGGAC intron-variant
rs1000142997 -- 44,865,535(+) AGTGA(C/G)GGGTG intron-variant
rs1000185625 -- 44,868,043(+) TATTC(A/G)GTTTA intron-variant
rs1000306069 -- 44,860,896(+) CCTCC(C/T)GGGTT intron-variant
rs1000356957 -- 44,852,731(+) TTAAG(C/T)TCTTA 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)

Relevant External Links 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

MalaCards: The human disease database

(1) MalaCards diseases for PTTG1IP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
estrogen-receptor positive breast cancer
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PTTG1IP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PTTG1IP: view

No data available for 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 M.-L. … Lehrach H. (Genomics 1998) 2 3 4 22 64
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 2 3 4 64
  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. (J. Biol. Chem. 2000) 3 4 22 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for PTTG1IP Gene

Sources for PTTG1IP Gene

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