• Gene id: 8500

Gene Summary

• Gene Symbol: PPFIA1   Gene   UCSC   Ensembl
• Aliases: LIP.1, LIP1, LIPRIN
• Gene name: PTPRF interacting protein alpha 1
• Alternate names: liprin-alpha-1, LAR-interacting protein 1, LIP-1, Liprin-alpha1, protein tyrosine phosphatase receptor type f polypeptide-interacting protein alpha-1, protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1,
• Gene location: 11q13.3 (70270686: 70384404)     Exons: 36     NC_000011.10
• 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: 611054

Protein Summary

• Protein general information: Q13136  
  • Name: Liprin alpha 1 (LAR interacting protein 1) (LIP 1) (Protein tyrosine phosphatase receptor type f polypeptide interacting protein alpha 1) (PTPRF interacting protein alpha 1)
  • Length: 1202  
  • Mass: 135779
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MMCEVMPTISEAEGPPGGGGGHGSGSPSQPDADSHFEQLMVSMLEERDRLLDTLRETQETLALTQGKLHEVGHER
  DSLQRQLNTALPQEFAALTKELNVCREQLLEREEEIAELKAERNNTRLLLEHLECLVSRHERSLRMTVVKRQAQS
  PAGVSSEVEVLKALKSLFEHHKALDEKVRERLRVALERCSLLEEELGATHKELMILKEQNNQKKTLTDGVLDINH
  EQENTPSTSGKRSSDGSLSHEEDLAKVIELQEIISKQSREQSQMKERLASLSSHVTELEEDLDTARKDLIKSEEM
  NTKLQRDVREAMAQKEDMEERITTLEKRYLAAQREATSVHDLNDKLENEIANKDSMHRQTEDKNRQLQERLELAE
  QKLQQTLRKAETLPEVEAELAQRVAALSKAEERHGNIEERLRQMEAQLEEKNQELQRARQREKMNEEHNKRLSDT
  VDKLLSESNERLQLHLKERMAALEDKNSLLREVESAKKQLEETQHDKDQLVLNIEALRAELDHMRLRGASLHHGR
  PHLGSVPDFRFPMADGHTDSYSTSAVLRRPQKGRLAALRDEPSKVQTLNEQDWERAQQASVLANVAQAFESDADV
  SDGEDDRDTLLSSVDLLSPSGQADAHTLAMMLQEQLDAINKEIRLIQEEKENTEQRAEEIESRVGSGSLDNLGRF
  RSMSSIPPYPASSLASSSPPGSGRSTPRRIPHSPAREVDRLGVMTLLPPSREEVRDDKTTIKCETSPPSSPRALR
  LDRLHKGALHTVSHEDIRDIRNSTGSQDGPVSNPSSSNSSQDSLHKAPKKKGIKSSIGRLFGKKEKGRPGQTGKE
  ALGQAGVSETDNSSQDALGLSKLGGQAEKNRKLQKKHELLEEARRQGLPFAQWDGPTVVVWLELWVGMPAWYVAA
  CRANVKSGAIMSALSDTEIQREIGISNPLHRLKLRLAIQEIMSLTSPSAPPTSRTTLAYGDMNHEWIGNEWLPSL
  GLPQYRSYFMECLVDARMLDHLTKKDLRGQLKMVDSFHRNSFQCGIMCLRRLNYDRKELERKREESQSEIKDVLV
  WSNDRVIRWILSIGLKEYANNLIESGVHGALLALDETFDFSALALLLQIPTQNTQARAVLEREFNNLLVMGTDRR
  FDEDDDKSFRRAPSWRKKFRPKDIRGLAAGSAETLPANFRVTSSMSSPSMQPKKMQMDGNVSGTQRLDSATVRTY
  SC

• Structural information:
  • Protein Domains: (878..94-)
    (/note="SAM-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (963..102-)
    (/note="SAM-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184-)
    (1051..112-)
    (/note="SAM-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00184"-)
  • Interpro: IPR029515  IPR037620  IPR037621  IPR037622  IPR030438   IPR001660  IPR013761  
  • Prosite: PS50105
  • CDD: cd09562 cd09565 cd09568
  • PDB: 1N7F
  • PDBsum: 1N7F
  • STRING: ENSP00000253925
• Other Databases: GeneCards:  PPFIA1  Malacards:  PPFIA1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0007160	cell-matrix adhesion	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:1903077	negative regulation of protein localization to plasma membrane	IMP	biological process
GO:0051497	negative regulation of stress fiber assembly	IMP	biological process
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: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:0051497	negative regulation of stress fiber assembly	IEA	biological process
GO:0032991	protein-containing complex	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0050808	synapse organization	IBA	biological process
GO:0048786	presynaptic active zone	IBA	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray