• Gene id: 145581

Gene Summary

• Gene Symbol: LRFN5   Gene   UCSC   Ensembl
• Aliases: C14orf146, FIGLER8, SALM5
• Gene name: leucine rich repeat and fibronectin type III domain containing 5
• Alternate names: leucine-rich repeat and fibronectin type-III domain-containing protein 5, fibronectin type III, immunoglobulin and leucine rich repeat domains 8,
• Gene location: 14q21.1 (41606855: 41904548)     Exons: 9     NC_000014.9
• Gene summary(Entrez): This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [pr
• OMIM: 612811

Protein Summary

• Protein general information: Q96NI6  
  • Name: Leucine rich repeat and fibronectin type III domain containing protein 5
  • Length: 719  
  • Mass: 79445
• Sequence:

  MEKILFYLFLIGIAVKAQICPKRCVCQILSPNLATLCAKKGLLFVPPNIDRRTVELRLADNFVTNIKRKDFANMT
  SLVDLTLSRNTISFITPHAFADLRNLRALHLNSNRLTKITNDMFSGLSNLHHLILNNNQLTLISSTAFDDVFALE
  ELDLSYNNLETIPWDAVEKMVSLHTLSLDHNMIDNIPKGTFSHLHKMTRLDVTSNKLQKLPPDPLFQRAQVLATS
  GIISPSTFALSFGGNPLHCNCELLWLRRLSREDDLETCASPPLLTGRYFWSIPEEEFLCEPPLITRHTHEMRVLE
  GQRATLRCKARGDPEPAIHWISPEGKLISNATRSLVYDNGTLDILITTVKDTGAFTCIASNPAGEATQIVDLHII
  KLPHLLNSTNHIHEPDPGSSDISTSTKSGSNTSSSNGDTKLSQDKIVVAEATSSTALLKFNFQRNIPGIRMFQIQ
  YNGTYDDTLVYRMIPPTSKTFLVNNLAAGTMYDLCVLAIYDDGITSLTATRVVGCIQFTTEQDYVRCHFMQSQFL
  GGTMIIIIGGIIVASVLVFIIILMIRYKVCNNNGQHKVTKVSNVYSQTNGAQIQGCSVTLPQSVSKQAVGHEENA
  QCCKATSDNVIQSSETCSSQDSSTTTSALPPSWTSSTSVSQKQKRKTGTKPSTEPQNEAVTNVESQNTNRNNSTA
  LQLASRPPDSVTEGPTSKRAHIKPNALLTNVDQIVQETQRLELI

• Structural information:
  • Protein Domains: (18..5-)
    (/note="LRRNT-)
    (240..28-)
    (/note="LRRCT-)
    (287..37-)
    (/note="Ig-like-)
    (414..50-)
    (/note="Fibronectin-type-III")
  • Interpro: IPR036116  IPR007110  IPR036179  IPR013783  IPR013098   IPR003599  IPR003598  IPR001611  IPR003591  IPR026879  IPR026906  IPR032675  
  • Prosite: PS50835 PS51450
  • PDB: 5XNP 5XNQ 5XWS 5XWT
  • PDBsum: 5XNP 5XNQ 5XWS 5XWT
  • STRING: ENSP00000298119
• Other Databases: GeneCards:  LRFN5  Malacards:  LRFN5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0009986	cell surface	IBA	cellular component
GO:0098982	GABA-ergic synapse	IBA	cellular component
GO:0099061	integral component of postsynaptic density membrane	IBA	cellular component
GO:0099560	synaptic membrane adhesion	IBA	biological process
GO:0098978	glutamatergic synapse	IBA	cellular component
GO:1905606	regulation of presynapse assembly	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:1905606	regulation of presynapse assembly	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099560	synaptic membrane adhesion	IEA	biological process
GO:0099061	integral component of postsynaptic density membrane	IEA	cellular component
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0043031	negative regulation of macrophage activation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0050728	negative regulation of inflammatory response	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043031	negative regulation of macrophage activation	ISS	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq