• Gene id: 9545

Gene Summary

• Gene Symbol: RAB3D   Gene   UCSC   Ensembl
• Aliases: D2-2, GOV, RAB16, RAD3D
• Gene name: RAB3D, member RAS oncogene family
• Alternate names: ras-related protein Rab-3D, Rab3D upregulated with myeloid differentiation, epididymis secretory sperm binding protein, glioblastoma overexpressed,
• Gene location: 19p13.2 (11339656: 11322067)     Exons: 5     NC_000019.10
• OMIM: 610635

Protein Summary

• Protein general information: O95716  
  • Name: Ras related protein Rab 3D
  • Length: 219  
  • Mass: 24267
  • Tissue specificity: Highly expressed in granulocytes of peripheral blood. Constitutively expressed at low levels in all hematopoietic cell lines investigated.
• Sequence:

  MASAGDTQAGPRDAADQNFDYMFKLLLIGNSSVGKTSFLFRYADDSFTPAFVSTVGIDFKVKTVYRHDKRIKLQI
  WDTAGQERYRTITTAYYRGAMGFLLMYDIANQESFAAVQDWATQIKTYSWDNAQVILVGNKCDLEDERVVPAEDG
  RRLADDLGFEFFEASAKENINVKQVFERLVDVICEKMNESLEPSSSSGSNGKGPAVGDAPAPQPSSCSC

• Structural information:
  • Interpro: IPR027417  IPR037872  IPR005225  IPR001806  
  • Prosite: PS51419
  • CDD: cd01865
  • PDB: 2GF9
  • PDBsum: 2GF9
  • STRING: ENSP00000222120
• Other Databases: GeneCards:  RAB3D  Malacards:  RAB3D

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0006886	intracellular protein transport	IBA	biological process
GO:0006904	vesicle docking involved in exocytosis	IBA	biological process
GO:0009306	protein secretion	IBA	biological process
GO:0031982	vesicle	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0005768	endosome	IBA	cellular component
GO:0008021	synaptic vesicle	IBA	cellular component
GO:0012505	endomembrane system	IBA	cellular component
GO:0017157	regulation of exocytosis	IBA	biological process
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0072659	protein localization to plasma membrane	IBA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006887	exocytosis	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0035577	azurophil granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
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:0030742	GTP-dependent protein binding	IEA	molecular function
GO:0018125	peptidyl-cysteine methylation	IEA	biological process
GO:0017157	regulation of exocytosis	IEA	biological process
GO:0030133	transport vesicle	IEA	cellular component
GO:0042588	zymogen granule	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005881	cytoplasmic microtubule	IDA	cellular component
GO:0045453	bone resorption	IDA	biological process
GO:0099503	secretory vesicle	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:1903307	positive regulation of regulated secretory pathway	IMP	biological process
GO:0031489	myosin V binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04972	Pancreatic secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq