• Gene id: 285282

Gene Summary

• Gene Symbol: RABL3   Gene   UCSC   Ensembl
• Aliases: PNCA5
• Gene name: RAB, member of RAS oncogene family like 3
• Alternate names: rab-like protein 3,
• Gene location: 3q13.33 (241315841: 241227263)     Exons: 35     NC_000002.12
• OMIM: 618542

Protein Summary

• Protein general information: Q5HYI8  
  • Name: Rab like protein 3
  • Length: 236  
  • Mass: 26423
• Sequence:

  MASLDRVKVLVLGDSGVGKSSLVHLLCQNQVLGNPSWTVGCSVDVRVHDYKEGTPEEKTYYIELWDVGGSVGSAS
  SVKSTRAVFYNSVNGIIFVHDLTNKKSSQNLRRWSLEALNRDLVPTGVLVTNGDYDQEQFADNQIPLLVIGTKLD
  QIHETKRHEVLTRTAFLAEDFNPEEINLDCTNPRYLAAGSSNAVKLSRFFDKVIEKRYFLREGNQIPGFPDRKRF
  GAGTLKSLHYD

• Structural information:
  • Interpro: IPR027417  
  • Prosite: PS51419
  • STRING: ENSP00000273375
• Other Databases: GeneCards:  RABL3  Malacards:  RABL3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032482	Rab protein signal transduction	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:0046578	regulation of Ras protein signal transduction	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1903059	regulation of protein lipidation	IMP	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0033077	T cell differentiation in thymus	ISS	biological process
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0001779	natural killer cell differentiation	ISS	biological process
GO:0050821	protein stabilization	ISS	biological process
GO:0005525	GTP binding	ISS	molecular function
GO:0030183	B cell differentiation	ISS	biological process

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881