• Gene id: 9364

Gene Summary

• Gene Symbol: RAB28   Gene   UCSC   Ensembl
• Aliases: CORD18
• Gene name: RAB28, member RAS oncogene family
• Alternate names: ras-related protein Rab-28,
• Gene location: 4p15.33 (13484364: 13367722)     Exons: 9     NC_000004.12
• Gene summary(Entrez): This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on
• OMIM: 612994

Protein Summary

• Protein general information: P51157  
  • Name: Ras related protein Rab 28
  • Length: 221  
  • Mass: 24841
  • Tissue specificity: Isoform S is detected in most tissues investigated
• Sequence:

  MSDSEEESQDRQLKIVVLGDGASGKTSLTTCFAQETFGKQYKQTIGLDFFLRRITLPGNLNVTLQIWDIGGQTIG
  GKMLDKYIYGAQGVLLVYDITNYQSFENLEDWYTVVKKVSEESETQPLVALVGNKIDLEHMRTIKPEKHLRFCQE
  NGFSSHFVSAKTGDSVFLCFQKVAAEILGIKLNKAEIEQSQRVVKADIVNYNQEPMSRTVNPPRSSMCAVQ

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  
  • Prosite: PS51419
  • PDB: 2HXS 3E5H
  • PDBsum: 2HXS 3E5H
  • STRING: ENSP00000328551
• Other Databases: GeneCards:  RAB28  Malacards:  RAB28

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IBA	molecular function
GO:0012505	endomembrane system	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0006886	intracellular protein transport	IBA	biological process
GO:0019003	GDP binding	IDA	molecular function
GO:0019003	GDP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0036064	ciliary basal body	ISS	cellular component
GO:0035253	ciliary rootlet	ISS	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1901998	toxin transport	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035253	ciliary rootlet	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Teratozoospermia	MIK: 17327269
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 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