• Gene id: 84298

Gene Summary

• Gene Symbol: LLPH   Gene   UCSC   Ensembl
• Aliases: C12orf31, hLLP
• Gene name: LLP homolog, long-term synaptic facilitation factor
• Alternate names: protein LLP homolog, LLP homolog, long-term synaptic facilitation (Aplysia), human LAPS18-like protein,
• Gene location: 12q14.3 (66130749: 66116554)     Exons: 3     NC_000012.12
• OMIM: 616998

Protein Summary

• Protein general information: Q9BRT6  
  • Name: Protein LLP homolog (Protein LAPS18 like)
  • Length: 129  
  • Mass: 15225
• Sequence:

  MAKSLRSKWKRKMRAEKRKKNAPKEASRLKSILKLDGDVLMKDVQEIATVVVPKPKHCQEKMQCEVKDEKDDMKM
  ETDIKRNKKTLLDQHGQYPIWMNQRQRKRLKAKREKRKGKSKAKAVKVAKGLAW

• Structural information:
  • Interpro: IPR018784  
  • STRING: ENSP00000266604
• Other Databases: GeneCards:  LLPH  Malacards:  LLPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0097484	dendrite extension	IBA	biological process
GO:0001099	basal RNA polymerase II transcription machinery binding	IBA	molecular function
GO:0005694	chromosome	IDA	cellular component
GO:0060999	positive regulation of dendritic spine development	ISS	biological process
GO:0001099	basal RNA polymerase II transcription machinery binding	ISS	molecular function
GO:0097484	dendrite extension	ISS	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097484	dendrite extension	IEA	biological process
GO:0001099	basal RNA polymerase II transcription machinery binding	IEA	molecular function
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

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)