• Gene id: 10244

Gene Summary

• Gene Symbol: RABEPK   Gene   UCSC   Ensembl
• Aliases: RAB9P40, bA65N13.1, p40
• Gene name: Rab9 effector protein with kelch motifs
• Alternate names: rab9 effector protein with kelch motifs, 40 kDa Rab9 effector protein, Rab9 effector p40,
• Gene location: 9q33.3 (125200492: 125234160)     Exons: 12     NC_000009.12
• OMIM: 605962

Protein Summary

• Protein general information: Q7Z6M1  
  • Name: Rab9 effector protein with kelch motifs (40 kDa Rab9 effector protein) (p40)
  • Length: 372  
  • Mass: 40565
• Sequence:

  MKQLPVLEPGDKPRKATWYTLTVPGDSPCARVGHSCSYLPPVGNAKRGKVFIVGGANPNRSFSDVHTMDLGKHQW
  DLDTCKGLLPRYEHASFIPSCTPDRIWVFGGANQSGNRNCLQVLNPETRTWTTPEVTSPPPSPRTFHTSSAAIGN
  QLYVFGGGERGAQPVQDTKLHVFDANTLTWSQPETLGNPPSPRHGHVMVAAGTKLFIHGGLAGDRFYDDLHCIDI
  SDMKWQKLNPTGAAPAGCAAHSAVAMGKHVYIFGGMTPAGALDTMYQYHTEEQHWTLLKFDTLLPPGRLDHSMCI
  IPWPVTCASEKEDSNSLTLNHEAEKEDSADKVMSHSGDSHEESQTATLLCLVFGGMNTEGEIYDDCIVTVVD

• Structural information:
  • Interpro: IPR015915  IPR006652  IPR011498  
  • STRING: ENSP00000362639
• Other Databases: GeneCards:  RABEPK  Malacards:  RABEPK

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006898	receptor-mediated endocytosis	TAS	biological process
GO:0006904	vesicle docking involved in exocytosis	TAS	biological process
GO:0005768	endosome	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0030133	transport vesicle	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0032588	trans-Golgi network membrane	TAS	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
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