• Gene id: 51195

Gene Summary

• Gene Symbol: RAPGEFL1   Gene   UCSC   Ensembl
• Aliases: Link-GEFII
• Gene name: Rap guanine nucleotide exchange factor like 1
• Alternate names: rap guanine nucleotide exchange factor-like 1, Link guanine nucleotide exchange factor II, Rap guanine nucleotide exchange factor (GEF)-like 1, link GEFII,
• Gene location: 17q21.1 (40177009: 40195655)     Exons: 17     NC_000017.11

Protein Summary

• Protein general information: Q9UHV5  
  • Name: Rap guanine nucleotide exchange factor like 1 (Link guanine nucleotide exchange factor II) (Link GEFII)
  • Length: 662  
  • Mass: 73265
• Sequence:

  MKPLEKFLKKQTSQLAGRTVAGGPGGGLGSCGGPGGGGGPGGGGGPAGGQRSLQRRQSVSRLLLPAFLREPPAEP
  GLEPPVPEEGGEPAGVAEEPGSGGPCWLQLEEVPGPGPLGGGGPLRSPSSYSSDELSPGEPLTSPPWAPLGAPER
  PEHLLNRVLERLAGGATRDSAASDILLDDIVLTHSLFLPTEKFLQELHQYFVRAGGMEGPEGLGRKQACLAMLLH
  FLDTYQGLLQEEEGAGHIIKDLYLLIMKDESLYQGLREDTLRLHQLVETVELKIPEENQPPSKQVKPLFRHFRRI
  DSCLQTRVAFRGSDEIFCRVYMPDHSYVTIRSRLSASVQDILGSVTEKLQYSEEPAGREDSLILVAVSSSGEKVL
  LQPTEDCVFTALGINSHLFACTRDSYEALVPLPEEIQVSPGDTEIHRVEPEDVANHLTAFHWELFRCVHELEFVD
  YVFHGERGRRETANLELLLQRCSEVTHWVATEVLLCEAPGKRAQLLKKFIKIAALCKQNQDLLSFYAVVMGLDNA
  AVSRLRLTWEKLPGKFKNLFRKFENLTDPCRNHKSYREVISKMKPPVIPFVPLILKDLTFLHEGSKTLVDGLVNI
  EKLHSVAEKVRTIRKYRSRPLCLDMEASPNHLQTKAYVRQFQVIDNQNLLFELSYKLEANSQ

• Structural information:
  • Protein Domains: (424..66-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168"-)
  • Interpro: IPR008937  IPR023578  IPR001895  IPR036964  IPR029071  
  • Prosite: PS50009
  • CDD: cd00155
  • PDB: 2DHZ
  • PDBsum: 2DHZ
  • STRING: ENSP00000264644
• Other Databases: GeneCards:  RAPGEFL1  Malacards:  RAPGEFL1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0016020	membrane	TAS	cellular component

Diseases

Associated diseases	References
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)