• Gene id: 11031

Gene Summary

• Gene Symbol: RAB31   Gene   UCSC   Ensembl
• Aliases: Rab22B
• Gene name: RAB31, member RAS oncogene family
• Alternate names: ras-related protein Rab-31, ras-related protein Rab-22B,
• Gene location: 18p11.22 (9708186: 9862550)     Exons: 8     NC_000018.10
• Gene summary(Entrez): Small GTP-binding proteins of the RAB family, such as RAB31, play essential roles in vesicle and granule targeting (Bao et al., 2002 [PubMed 11784320]).[supplied by OMIM, Jul 2009]
• OMIM: 605694

Protein Summary

• Protein general information: Q13636  
  • Name: Ras related protein Rab 31 (Ras related protein Rab 22B)
  • Length: 194  
  • Mass: 21569
  • Tissue specificity: Highest expression in placenta and brain with lower levels in heart and lung. Not detected in liver, skeletal muscle, kidney or pancreas. {ECO
• Sequence:

  MAIRELKVCLLGDTGVGKSSIVCRFVQDHFDHNISPTIGASFMTKTVPCGNELHKFLIWDTAGQERFHSLAPMYY
  RGSAAAVIVYDITKQDSFYTLKKWVKELKEHGPENIVMAIAGNKCDLSDIREVPLKDAKEYAESIGAIVVETSAK
  NAINIEELFQGISRQIPPLDPHENGNNGTIKVEKPTMQASRRCC

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  
  • Prosite: PS51419
  • PDB: 2FG5
  • PDBsum: 2FG5
  • STRING: ENSP00000461945
• Other Databases: GeneCards:  RAB31  Malacards:  RAB31

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0032588	trans-Golgi network membrane	IBA	cellular component
GO:0032482	Rab protein signal transduction	IBA	biological process
GO:0012505	endomembrane system	IBA	cellular component
GO:0003924	GTPase activity	IBA	molecular function
GO:0043001	Golgi to plasma membrane protein transport	IBA	biological process
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0030670	phagocytic vesicle membrane	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0032588	trans-Golgi network membrane	IDA	cellular component
GO:0019003	GDP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0045335	phagocytic vesicle	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0090382	phagosome maturation	IMP	biological process
GO:0045055	regulated exocytosis	IMP	biological process
GO:0032869	cellular response to insulin stimulus	IMP	biological process
GO:0036186	early phagosome membrane	ISS	cellular component
GO:0001891	phagocytic cup	ISS	cellular component
GO:0043001	Golgi to plasma membrane protein transport	IMP	biological process
GO:0031623	receptor internalization	IMP	biological process
GO:0060100	positive regulation of phagocytosis, engulfment	ISS	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R