• Gene id: 64284

Gene Summary

• Gene Symbol: RAB17   Gene   UCSC   Ensembl
• Gene name: RAB17, member RAS oncogene family
• Alternate names: ras-related protein Rab-17,
• Gene location: 2q37.3 (237591120: 237574321)     Exons: 6     NC_000002.12
• Gene summary(Entrez): The Rab subfamily of small GTPases plays an important role in the regulation of membrane trafficking. RAB17 is an epithelial cell-specific GTPase (Lutcke et al., 1993 [PubMed 8486736]).[supplied by OMIM, Oct 2009]
• OMIM: 610472

Protein Summary

• Protein general information: Q9H0T7  
  • Name: Ras related protein Rab 17
  • Length: 212  
  • Mass: 23491
  • Tissue specificity: Expressed in melanocytes (at protein level). {ECO
• Sequence:

  MAQAHRTPQPRAAPSQPRVFKLVLLGSGSVGKSSLALRYVKNDFKSILPTVGCAFFTKVVDVGATSLKLEIWDTA
  GQEKYHSVCHLYFRGANAALLVYDITRKDSFLKAQQWLKDLEEELHPGEVLVMLVGNKTDLSQEREVTFQEGKEF
  ADSQKLLFMETSAKLNHQVSEVFNTVAQELLQRSDEEGQALRGDAAVALNKGPARQAKCCAH

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  
  • Prosite: PS51419
  • STRING: ENSP00000264601
• Other Databases: GeneCards:  RAB17  Malacards:  RAB17

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0055038	recycling endosome membrane	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0032456	endocytic recycling	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0019003	GDP binding	IDA	molecular function
GO:0055038	recycling endosome membrane	ISS	cellular component
GO:0055037	recycling endosome	ISS	cellular component
GO:0051963	regulation of synapse assembly	ISS	biological process
GO:0051489	regulation of filopodium assembly	ISS	biological process
GO:0050773	regulation of dendrite development	ISS	biological process
GO:0045056	transcytosis	ISS	biological process
GO:0032456	endocytic recycling	ISS	biological process
GO:0032402	melanosome transport	ISS	biological process
GO:0032401	establishment of melanosome localization	ISS	biological process
GO:0030425	dendrite	ISS	cellular component
GO:0016323	basolateral plasma membrane	ISS	cellular component
GO:0046847	filopodium assembly	ISS	biological process
GO:0043025	neuronal cell body	ISS	cellular component
GO:0042470	melanosome	ISS	cellular component
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0002415	immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor	ISS	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005622	intracellular	IDA	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:0016323	basolateral plasma membrane	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0032401	establishment of melanosome localization	IEA	biological process
GO:0032402	melanosome transport	IEA	biological process
GO:0032456	endocytic recycling	IEA	biological process
GO:0045056	transcytosis	IEA	biological process
GO:0050773	regulation of dendrite development	IEA	biological process
GO:0051489	regulation of filopodium assembly	IEA	biological process
GO:0051963	regulation of synapse assembly	IEA	biological process
GO:0055037	recycling endosome	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0002415	immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0046847	filopodium assembly	IEA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0055038	recycling endosome membrane	IEA	cellular component
GO:0042470	melanosome	IEA	cellular component
GO:0003924	GTPase activity	IDA	molecular function
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0060271	cilium assembly	IMP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray