• Gene id: 27342

Gene Summary

• Gene Symbol: RABGEF1   Gene   UCSC   Ensembl
• Aliases: RABEX5, RAP1, rabex-5
• Gene name: RAB guanine nucleotide exchange factor 1
• Alternate names: rab5 GDP/GTP exchange factor, RAB guanine nucleotide exchange factor (GEF) 1, rabaptin-5-associated exchange factor for Rab5,
• Gene location: 7q11.21 (44844020: 44844887)     Exons: 1     NC_000023.11
• Gene summary(Entrez): RABGEF1 forms a complex with rabaptin-5 (RABPT5; MIM 603616) that is required for endocytic membrane fusion, and it serves as a specific guanine nucleotide exchange factor (GEF) for RAB5 (RAB5A; MIM 179512) (Horiuchi et al., 1997 [PubMed 9323142]).[suppli
• OMIM: 609700

Protein Summary

• Protein general information: Q9UJ41  
  • Name: Rab5 GDP/GTP exchange factor (RAP1) (Rabaptin 5 associated exchange factor for Rab5) (Rabex 5)
  • Length: 491  
  • Mass: 56891
• Sequence:

  MSLKSERRGIHVDQSDLLCKKGCGYYGNPAWQGFCSKCWREEYHKARQKQIQEDWELAERLQREEEEAFASSQSS
  QGAQSLTFSKFEEKKTNEKTRKVTTVKKFFSASSRVGSKKEIQEAKAPSPSINRQTSIETDRVSKEFIEFLKTFH
  KTGQEIYKQTKLFLEGMHYKRDLSIEEQSECAQDFYHNVAERMQTRGKVPPERVEKIMDQIEKYIMTRLYKYVFC
  PETTDDEKKDLAIQKRIRALRWVTPQMLCVPVNEDIPEVSDMVVKAITDIIEMDSKRVPRDKLACITKCSKHIFN
  AIKITKNEPASADDFLPTLIYIVLKGNPPRLQSNIQYITRFCNPSRLMTGEDGYYFTNLCCAVAFIEKLDAQSLN
  LSQEDFDRYMSGQTSPRKQEAESWSPDACLGVKQMYKNLDLLSQLNERQERIMNEAKKLEKDLIDWTDGIAREVQ
  DIVEKYPLEIKPPNQPLAAIDSENVENDKLPPPLQPQVYAG

• Structural information:
  • Protein Domains: (232..37-)
    (/note="VPS9-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00550"-)
  • Interpro: IPR041545  IPR003123  IPR037191  IPR002653  
  • Prosite: PS51205 PS51036
  • PDB: 1TXU 2C7M 2C7N 2OT3 4N3X 4N3Y 4N3Z 4Q9U
  • PDBsum: 1TXU 2C7M 2C7N 2OT3 4N3X 4N3Y 4N3Z 4Q9U
  • DIP: 29348
• Other Databases: GeneCards:  RABGEF1  Malacards:  RABGEF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
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:0055037	recycling endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0006612	protein targeting to membrane	IMP	biological process
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IMP	molecular function
GO:0005769	early endosome	IMP	cellular component
GO:0017137	Rab GTPase binding	IPI	molecular function

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)