• Gene id: 23180

Gene Summary

• Gene Symbol: RFTN1   Gene   UCSC   Ensembl
• Aliases: MIG2, PIB10, PIG9, RAFTLIN
• Gene name: raftlin, lipid raft linker 1
• Alternate names: raftlin, cell migration-inducing gene 2 protein, proliferation-inducing protein 10, proliferation-inducing protein 9, raft-linking protein,
• Gene location: 3p24.3 (16513698: 16315844)     Exons: 15     NC_000003.12
• OMIM: 618210

Protein Summary

• Protein general information: Q14699  
  • Name: Raftlin (Cell migration inducing gene 2 protein) (Raft linking protein)
  • Length: 578  
  • Mass: 63146
  • Tissue specificity: Expressed in B-cells (at protein level) (PubMed
• Sequence:

  MGCGLNKLEKRDEKRPGNIYSTLKRPQVETKIDVSYEYRFLEFTTLSAAELPGSSAVRLASLRDLPAQLLELYQQ
  GFSLAALHPFVQPTHEREKTPLEHIFRAILIKKTDRSQKTDLHNEGYILELDCCSSLDHPTDQKLIPEFIKKIQE
  AASQGLKFVGVIPQYHSSVNSAGSSAPVSTANSTEDARDAKNARGDHASLENEKPGTGDVCSAPAGRNQSPEPSS
  GPRGEVPLAKQPSSPSGEGDGGELSPQGVSKTLDGPESNPLEVHEEPLSGKMEIFTLFNKPKSHQKCRQYYPVTI
  PLHVSKNGQTVSGLDANWLEHMSDHFRKGGMLVNAVFYLGIVNDSLHGLTDGVFIFEAVSTEDSKTIQGYDAIVV
  EQWTVLEGVEVQTDYVPLLNSLAAYGWQLTCVLPTPVVKTTSEGSVSTKQIVFLQRPCLPQKIKKKESKFQWRFS
  REEMHNRQMRKSKGKLSARDKQQAEENEKNLEDQSSKAGDMGNCVSGQQQEGGVSEEMKGPVQEDKGEQLSPGGL
  LCGVGVEGEAVQNGPASHSRALVGICTGHSNPGEDARDGDAEEVRELGTVEEN

• Structural information:
  • Interpro: IPR028169  
  • STRING: ENSP00000334153
• Other Databases: GeneCards:  RFTN1  Malacards:  RFTN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0003725	double-stranded RNA binding	IDA	molecular function
GO:0043330	response to exogenous dsRNA	IMP	biological process
GO:0033227	dsRNA transport	IMP	biological process
GO:0034138	toll-like receptor 3 signaling pathway	IMP	biological process
GO:1903044	protein localization to membrane raft	IEA	biological process
GO:0032620	interleukin-17 production	IEA	biological process
GO:0032596	protein transport into membrane raft	IEA	biological process
GO:0050852	T cell receptor signaling pathway	IEA	biological process
GO:0002457	T cell antigen processing and presentation	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:1903044	protein localization to membrane raft	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0050853	B cell receptor signaling pathway	IMP	biological process
GO:0032596	protein transport into membrane raft	ISS	biological process
GO:0001765	membrane raft assembly	IMP	biological process
GO:0040010	positive regulation of growth rate	IMP	biological process
GO:0032620	interleukin-17 production	ISS	biological process
GO:0050852	T cell receptor signaling pathway	ISS	biological process
GO:0002457	T cell antigen processing and presentation	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray