• Gene id: 9135

Gene Summary

• Gene Symbol: RABEP1   Gene   UCSC   Ensembl
• Aliases: RAB5EP, RABPT5
• Gene name: rabaptin, RAB GTPase binding effector protein 1
• Alternate names: rab GTPase-binding effector protein 1, neurocrescin, rabaptin-4, rabaptin-5, rabaptin-5alpha, renal carcinoma antigen NY-REN-17,
• Gene location: 17p13.2 (42603126: 42547968)     Exons: 11     NC_000003.12
• OMIM: 603616

Protein Summary

• Protein general information: Q15276  
  • Name: Rab GTPase binding effector protein 1 (Rabaptin 4) (Rabaptin 5) (Rabaptin 5alpha) (Renal carcinoma antigen NY REN 17)
  • Length: 862  
  • Mass: 99290
• Sequence:

  MAQPGPASQPDVSLQQRVAELEKINAEFLRAQQQLEQEFNQKRAKFKELYLAKEEDLKRQNAVLQAAQDDLGHLR
  TQLWEAQAEMENIKAIATVSENTKQEAIDEVKRQWREEVASLQAVMKETVRDYEHQFHLRLEQERTQWAQYRESA
  EREIADLRRRLSEGQEEENLENEMKKAQEDAEKLRSVVMPMEKEIAALKDKLTEAEDKIKELEASKVKELNHYLE
  AEKSCRTDLEMYVAVLNTQKSVLQEDAEKLRKELHEVCHLLEQERQQHNQLKHTWQKANDQFLESQRLLMRDMQR
  MEIVLTSEQLRQVEELKKKDQEDDEQQRLNKRKDHKKADVEEEIKIPVVCALTQEESSAQLSNEEEHLDSTRGSV
  HSLDAGLLLPSGDPFSKSDNDMFKDGLRRAQSTDSLGTSGSLQSKALGYNYKAKSAGNLDESDFGPLVGADSVSE
  NFDTASLGSLQMPSGFMLTKDQERAIKAMTPEQEETASLLSSVTQGMESAYVSPSGYRLVSETEWNLLQKEVHNA
  GNKLGRRCDMCSNYEKQLQGIQIQEAETRDQVKKLQLMLRQANDQLEKTMKDKQELEDFIKQSSEDSSHQISALV
  LRAQASEILLEELQQGLSQAKRDVQEQMAVLMQSREQVSEELVRLQKDNDSLQGKHSLHVSLQQAEDFILPDTTE
  ALRELVLKYREDIINVRTAADHVEEKLKAEILFLKEQIQAEQCLKENLEETLQLEIENCKEEIASISSLKAELER
  IKVEKGQLESTLREKSQQLESLQEIKISLEEQLKKETAAKATVEQLMFEEKNKAQRLQTELDVSEQVQRDFVKLS
  QTLQVQLERIRQADSLERIRAILNDTKLTDINQLPET

• Structural information:
  • Interpro: IPR003914  IPR029880  IPR018514  IPR015390  
  • PDB: 1P4U 1TU3 1X79 4N3Y 4N3Z 4Q9U
  • PDBsum: 1P4U 1TU3 1X79 4N3Y 4N3Z 4Q9U
  • DIP: 29350
  • STRING: ENSP00000445408
• Other Databases: GeneCards:  RABEP1  Malacards:  RABEP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0006893	Golgi to plasma membrane transport	IBA	biological process
GO:0005768	endosome	IBA	cellular component
GO:0030139	endocytic vesicle	IBA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0016192	vesicle-mediated transport	IMP	biological process
GO:0006893	Golgi to plasma membrane transport	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903441	protein localization to ciliary membrane	ISS	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0006897	endocytosis	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0005769	early endosome	TAS	cellular component
GO:0006897	endocytosis	TAS	biological process
GO:0061025	membrane fusion	TAS	biological process
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: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: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: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:0005768	endosome	IEA	cellular component
GO:0006893	Golgi to plasma membrane transport	IEA	biological process
GO:1903441	protein localization to ciliary membrane	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0032991	protein-containing complex	IMP	cellular component
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0005768	endosome	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

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)