• Gene id: 754

Gene Summary

• Gene Symbol: PTTG1IP   Gene   UCSC   Ensembl
• Aliases: C21orf1, C21orf3, PBF
• Gene name: PTTG1 interacting protein
• Alternate names: pituitary tumor-transforming gene 1 protein-interacting protein, PTTG-binding factor, pituitary tumor-transforming 1 interacting protein, pituitary tumor-transforming gene protein-binding factor,
• Gene location: 21q22.3 (44873902: 44849584)     Exons: 6     NC_000021.9
• Gene summary(Entrez): 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 activa
• OMIM: 603784

Protein Summary

• Protein general information: P53801  
  • Name: Pituitary tumor transforming gene 1 protein interacting protein (Pituitary tumor transforming gene protein binding factor) (PBF) (PTTG binding factor)
  • Length: 180  
  • Mass: 20324
  • Tissue specificity: Ubiquitous.
• Sequence:

  MAPGVARGPTPYWRLRLGGAALLLLLIPVAAAQEPPGAACSQNTNKTCEECLKNVSCLWCNTNKACLDYPVTSVL
  PPASLCKLSSARWGVCWVNFEALIITMSVVGGTLLLGIAICCCCCCRRKRSRKPDRSEEKAMREREERRIRQEER
  RAEMKTRHDEIRKKYGLFKEENPYARFENN

• Structural information:
  • Protein Domains: (39..9-)
    (/note="PSI"-)
  • Interpro: IPR016201  IPR042492  
  • STRING: ENSP00000328325
• Other Databases: GeneCards:  PTTG1IP  Malacards:  PTTG1IP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006606	protein import into nucleus	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1903364	positive regulation of cellular protein catabolic process	IDA	biological process
GO:0031398	positive regulation of protein ubiquitination	IDA	biological process
GO:1902254	negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP	biological process
GO:0002039	p53 binding	IPI	molecular function
GO:0043518	negative regulation of DNA damage response, signal transduction by p53 class mediator	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0006606	protein import into nucleus	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq