• Gene id: 57326

Gene Summary

• Gene Symbol: PBXIP1   Gene   UCSC   Ensembl
• Aliases: HPIP
• Gene name: PBX homeobox interacting protein 1
• Alternate names: pre-B-cell leukemia transcription factor-interacting protein 1, hematopoietic PBX-interacting protein, pre-B-cell leukemia homeobox interacting protein 1,
• Gene location: 1q21.3 (154956098: 154944079)     Exons: 9     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can
• OMIM: 618819

Protein Summary

• Protein general information: Q96AQ6  
  • Name: Pre B cell leukemia transcription factor interacting protein 1 (Hematopoietic PBX interacting protein)
  • Length: 731  
  • Mass: 80643
  • Tissue specificity: Expressed in early hematopoietic precursors. {ECO
• Sequence:

  MASCPDSDNSWVLAGSESLPVETLGPASRMDPESERALQAPHSPSKTDGKELAGTMDGEGTLFQTESPQSGSILT
  EETEVKGTLEGDVCGVEPPGPGDTVVQGDLQETTVVTGLGPDTQDLEGQSPPQSLPSTPKAAWIREEGRCSSSDD
  DTDVDMEGLRRRRGREAGPPQPMVPLAVENQAGGEGAGGELGISLNMCLLGALVLLGLGVLLFSGGLSESETGPM
  EEVERQVLPDPEVLEAVGDRQDGLREQLQAPVPPDSVPSLQNMGLLLDKLAKENQDIRLLQAQLQAQKEELQSLM
  HQPKGLEEENAQLRGALQQGEAFQRALESELQQLRARLQGLEADCVRGPDGVCLSGGRGPQGDKAIREQGPREQE
  PELSFLKQKEQLEAEAQALRQELERQRRLLGSVQQDLERSLQDASRGDPAHAGLAELGHRLAQKLQGLENWGQDP
  GVSANASKAWHQKSHFQNSREWSGKEKWWDGQRDRKAEHWKHKKEESGRERKKNWGGQEDREPAGRWKEGRPRVE
  ESGSKKEGKRQGPKEPPRKSGSFHSSGEKQKQPRWREGTKDSHDPLPSWAELLRPKYRAPQGCSGVDECARQEGL
  TFFGTELAPVRQQELASLLRTYLARLPWAGQLTKELPLSPAFFGEDGIFRHDRLRFRDFVDALEDSLEEVAVQQT
  GDDDEVDDFEDFIFSHFFGDKALKKRSGKKDKHSQSPRAAGPREGHSHSHHHHHRG

• Structural information:
  • Interpro: IPR033589  
  • DIP: 46922
  • STRING: ENSP00000357448
• Other Databases: GeneCards:  PBXIP1  Malacards:  PBXIP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001106	regulation of Rho guanyl-nucleotide exchange factor activity	IBA	biological process
GO:0016020	membrane	IBA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
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: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:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005634	nucleus	NAS	cellular component
GO:0003714	transcription corepressor activity	NAS	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	NAS	biological process
GO:0030154	cell differentiation	NAS	biological process
GO:0007275	multicellular organism development	NAS	biological process
GO:0005829	cytosol	NAS	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R