• Gene id: 8496

Gene Summary

• Gene Symbol: PPFIBP1   Gene   UCSC   Ensembl
• Aliases: L2, SGT2, hSGT2, hSgt2p
• Gene name: PPFIA binding protein 1
• Alternate names: liprin-beta-1, PTPRF interacting protein, binding protein 1 (liprin beta 1), PTPRF-interacting protein-binding protein 1, liprin related protein, protein-tyrosine phosphatase receptor-type f polypeptide-interacting protein-binding protein 1,
• Gene location: 12p11.23-p11.22 (27524125: 27695563)     Exons: 34     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is a member of the LAR protein-tyrosine phosphatase-interacting protein (liprin) family. Liprins interact with members of LAR family of transmembrane protein tyrosine phosphatases, which are known to be important for axon

Protein Summary

• Protein general information: Q86W92  
  • Name: Liprin beta 1 (Protein tyrosine phosphatase receptor type f polypeptide interacting protein binding protein 1) (PTPRF interacting protein binding protein 1) (hSGT2)
  • Length: 1011  
  • Mass: 114024
  • Tissue specificity: Widely expressed. Absent in liver. {ECO
• Sequence:

  MMSDASDMLAAALEQMDGIIAGSKALEYSNGIFDCQSPTSPFMGSLRALHLVEDLRGLLEMMETDEKEGLRCQIP
  DSTAETLVEWLQSQMTNGHLPGNGDVYQERLARLENDKESLVLQVSVLTDQVEAQGEKIRDLEFCLEEHREKVNA
  TEEMLQQELLSRTSLETQKLDLMAEISNLKLKLTAVEKDRLDYEDKFRDTEGLIQEINDLRLKVSEMDSERLQYE
  KKLKSTKSLMAKLSSMKIKVGQMQYEKQRMEQKWESLKDELASLKEQLEEKESEVKRLQEKLVCKMKGEGVEIVD
  RDIEVQKMKKAVESLMAANEEKDRKIEDLRQCLNRYKKMQDTVVLAQGKDGEYEELLNSSSISSLLDAQGFSDLE
  KSPSPTPVMGSPSCDPFNTSVPEEFHTTILQVSIPSLLPATVSMETSEKSKLTPKPETSFEENDGNIILGATVDT
  QLCDKLLTSSLQKSSSLGNLKKETSDGEKETIQKTSEDRAPAESRPFGTLPPRPPGQDTSMDDNPFGTRKVRSSF
  GRGFFKIKSNKRTASAPNLAETEKETAEHLDLAGASSRPKDSQRNSPFQIPPPSPDSKKKSRGIMKLFGKLRRSQ
  STTFNPDDMSEPEFKRGGTRATAGPRLGWSRDLGQSNSDLDMPFAKWTKEQVCNWLMEQGLGSYLNSGKHWIASG
  QTLLQASQQDLEKELGIKHSLHRKKLQLALQALGSEEETNHGKLDFNWVTRWLDDIGLPQYKTQFDEGRVDGRML
  HYMTVDDLLSLKVVSVLHHLSIKRAIQVLRINNFEPNCLRRRPSDENTIAPSEVQKWTNHRVMEWLRSVDLAEYA
  PNLRGSGVHGGLMVLEPRFNVETMAQLLNIPPNKTLLRRHLATHFNLLIGAEAQHQKRDAMELPDYVLLTATAKV
  KPKKLAFSNFGNLRKKKQEDGEEYVCPMELGQASGSASKKGFKPGLDMRLYEEDDLDRLEQMEDSEGTVRQIGAF
  SEGINNLTHMLKEDDMFKDFAARSPSASITDEDSNV

• Structural information:
  • Protein Domains: (647..71-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (719..78-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (804..87-)
    (/note="SAM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR042180  IPR029515  IPR037617  IPR037618  IPR037619   IPR030437  IPR001660  IPR013761  
  • Prosite: PS50105
  • CDD: cd09563 cd09566 cd09569
  • DIP: 42195
  • STRING: ENSP00000314724
• Other Databases: GeneCards:  PPFIBP1  Malacards:  PPFIBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050808	synapse organization	IBA	biological process
GO:0007528	neuromuscular junction development	IBA	biological process
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0007155	cell adhesion	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq