• Gene id: 8541

Gene Summary

• Gene Symbol: PPFIA3   Gene   UCSC   Ensembl
• Aliases: LPNA3
• Gene name: PTPRF interacting protein alpha 3
• Alternate names: liprin-alpha-3, liprin, protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-3, protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3, protein tyrosine phosphatase, receptor typ,
• Gene location: 19q13.33 (49119388: 49151029)     Exons: 30     NC_000019.10
• 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
• OMIM: 308380

Protein Summary

• Protein general information: O75145  
  • Name: Liprin alpha 3 (Protein tyrosine phosphatase receptor type f polypeptide interacting protein alpha 3) (PTPRF interacting protein alpha 3)
  • Length: 1194  
  • Mass: 133496
  • Tissue specificity: Predominantly expressed in brain (PubMed
• Sequence:

  MMCEVMPTISEDGRRGSALGPDEAGGELERLMVTMLTERERLLETLREAQDGLATAQLRLRELGHEKDSLQRQLS
  IALPQEFAALTKELNLCREQLLEREEEIAELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQSPGGVSSEV
  EVLKALKSLFEHHKALDEKVRERLRMALERVAVLEEELELSNQETLNLREQLSRRRSGLEEPGKDGDGQTLANGL
  GPGGDSNRRTAELEEALERQRAEVCQLRERLAVLCRQMSQLEEELGTAHRELGKAEEANSKLQRDLKEALAQRED
  MEERITTLEKRYLSAQREATSLHDANDKLENELASKESLYRQSEEKSRQLAEWLDDAKQKLQQTLQKAETLPEIE
  AQLAQRVAALNKAEERHGNFEERLRQLEAQLEEKNQELQRARQREKMNDDHNKRLSETVDKLLSESNERLQLHLK
  ERMGALEEKNSLSEEIANMKKLQDELLLNKEQLLAEMERMQMEIDQLRGRPPSSYSRSLPGSALELRYSQAPTLP
  SGAHLDPYVAGSGRAGKRGRWSGVKEEPSKDWERSAPAGSIPPPFPGELDGSDEEEAEGMFGAELLSPSGQADVQ
  TLAIMLQEQLEAINKEIKLIQEEKETTEQRAEELESRVSSSGLDSLGRYRSSCSLPPSLTTSTLASPSPPSSGHS
  TPRLAPPSPAREGTDKANHVPKEEAGAPRGEGPAIPGDTPPPTPRSARLERMTQALALQAGSLEDGGPPRGSEGT
  PDSLHKAPKKKSIKSSIGRLFGKKEKGRMGPPGRDSSSLAGTPSDETLATDPLGLAKLTGPGDKDRRNKRKHELL
  EEACRQGLPFAAWDGPTVVSWLELWVGMPAWYVAACRANVKSGAIMANLSDTEIQREIGISNPLHRLKLRLAIQE
  MVSLTSPSAPASSRTSTGNVWMTHEEMESLTATTKPETKEISWEQILAYGDMNHEWVGNDWLPSLGLPQYRSYFM
  ESLVDARMLDHLNKKELRGQLKMVDSFHRVSLHYGIMCLKRLNYDRKDLERRREESQTQIRDVMVWSNERVMGWV
  SGLGLKEFATNLTESGVHGALLALDETFDYSDLALLLQIPTQNAQARQLLEKEFSNLISLGTDRRLDEDSAKSFS
  RSPSWRKMFREKDLRGVTPDSAEMLPPNFRSAAAGALGSPGLPLRKLQPEGQTSGSSRADGVSVRTYSC

• Structural information:
  • Protein Domains: (838..90-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (953..101-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (1041..111-)
    (/note="SAM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR029515  IPR037620  IPR037621  IPR037622  IPR030440   IPR001660  IPR013761  
  • Prosite: PS50105
  • CDD: cd09562 cd09565 cd09568
  • STRING: ENSP00000335614
• Other Databases: GeneCards:  PPFIA3  Malacards:  PPFIA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007269	neurotransmitter secretion	ISS	biological process
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0048172	regulation of short-term neuronal synaptic plasticity	ISS	biological process
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0050808	synapse organization	IBA	biological process
GO:0001669	acrosomal vesicle	IDA	cellular component
GO:0098875	epididymosome	ISS	cellular component
GO:0007269	neurotransmitter secretion	IEA	biological process
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007269	neurotransmitter secretion	TAS	biological process
GO:0014047	glutamate secretion	TAS	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:0098978	glutamatergic synapse	IEA	cellular component
GO:0098831	presynaptic active zone cytoplasmic component	IEA	cellular component
GO:0016079	synaptic vesicle exocytosis	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0016081	synaptic vesicle docking	IEA	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R