• Gene id: 92799

Gene Summary

• Gene Symbol: SHKBP1   Gene   UCSC   Ensembl
• Aliases: PP203, Sb1
• Gene name: SH3KBP1 binding protein 1
• Alternate names: SH3KBP1-binding protein 1, SETA-binding protein 1,
• Gene location: 19q13.2 (25082140: 25069939)     Exons: 8     NC_000020.11
• OMIM: 617322

Protein Summary

• Protein general information: Q8TBC3  
  • Name: SH3KBP1 binding protein 1 (SETA binding protein 1)
  • Length: 707  
  • Mass: 76344
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MAAAATAAEGVPSRGPPGEVIHLNVGGKRFSTSRQTLTWIPDSFFSSLLSGRISTLKDETGAIFIDRDPTVFAPI
  LNFLRTKELDPRGVHGSSLLHEAQFYGLTPLVRRLQLREELDRSSCGNVLFNGYLPPPVFPVKRRNRHSLVGPQQ
  LGGRPAPVRRSNTMPPNLGNAGLLGRMLDEKTPPSPSGQPEEPGMVRLVCGHHNWIAVAYTQFLVCYRLKEASGW
  QLVFSSPRLDWPIERLALTARVHGGALGEHDKMVAAATGSEILLWALQAEGGGSEIGVFHLGVPVEALFFVGNQL
  IATSHTGRIGVWNAVTKHWQVQEVQPITSYDAAGSFLLLGCNNGSIYYVDVQKFPLRMKDNDLLVSELYRDPAED
  GVTALSVYLTPKTSDSGNWIEIAYGTSSGGVRVIVQHPETVGSGPQLFQTFTVHRSPVTKIMLSEKHLISVCADN
  NHVRTWSVTRFRGMISTQPGSTPLASFKILALESADGHGGCSAGNDIGPYGERDDQQVFIQKVVPSASQLFVRLS
  STGQRVCSVRSVDGSPTTAFTVLECEGSRRLGSRPRRYLLTGQANGSLAMWDLTTAMDGLGQAPAGGLTEQELME
  QLEHCELAPPAPSAPSWGCLPSPSPRISLTSLHSASSNTSLSGHRGSPSPPQAEARRRGGGSFVERCQELVRSGP
  DLRRPPTPAPWPSSGLGTPLTPPKMKLNETSF

• Structural information:
  • Protein Domains: (19..8-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR000210  IPR011333  IPR003131  IPR001680  IPR036322  
  • Prosite: PS50097 PS00678
  • PDB: 4CRH
  • PDBsum: 4CRH
  • STRING: ENSP00000291842
• Other Databases: GeneCards:  SHKBP1  Malacards:  SHKBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	ISS	biological process
GO:0051260	protein homooligomerization	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0042802	identical 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:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0005764	lysosome	IEA	cellular component

Diseases

Associated diseases	References
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)