• Gene id: 51555

Gene Summary

• Gene Symbol: PEX5L   Gene   UCSC   Ensembl
• Aliases: PEX5R, PEX5RP, PXR2, PXR2B, TRIP8b
• Gene name: peroxisomal biogenesis factor 5 like
• Alternate names: PEX5-related protein, HCN channel auxiliary subunit, PEX2-related protein, PEX5-like protein, Pex5p-related protein, peroxin-5-related protein, peroxisome biogenesis factor 5-like, tetratricopeptide repeat-containing Rab8b-interacting protein,
• Gene location: 3q26.33 (180037008: 179794957)     Exons: 21     NC_000003.12
• OMIM: 611058

Protein Summary

• Protein general information: Q8IYB4  
  • Name: PEX5 related protein (PEX2 related protein) (PEX5 like protein) (Peroxin 5 related protein) (Peroxisome biogenesis factor 5 like) (Tetratricopeptide repeat containing Rab8b interacting protein) (Pex5Rp) (TRIP8b)
  • Length: 626  
  • Mass: 69697
  • Tissue specificity: Mainly expressed in brain. Also expressed in pancreas, testis and pituitary. {ECO
• Sequence:

  MYQGHMQKSKEQGYGKLSSDEDLEIIVDQKQGKGSRAADKAVAMVMKEIPREESAEEKPLLTMTSQLVNEQQESR
  PLLSPSIDDFLCETKSEAIARPVTSNTAVLTTGLDLLDLSEPVSQTQTKAKKSEPSSKTSSLKKKADGSDLISTD
  AEQRGQPLRVPETSSLDLDIQTQLEKWDDVKFHGDRNTKGHPMAERKSSSSRTGSKELLWSSEHRSQPELSGGKS
  ALNSESASELELVAPTQARLTKEHRWGSALLSRNHSLEEEFERAKAAVESDTEFWDKMQAEWEEMARRNWISENQ
  EAQNQVTISASEKGYYFHTENPFKDWPGAFEEGLKRLKEGDLPVTILFMEAAILQDPGDAEAWQFLGITQAENEN
  EQAAIVALQRCLELQPNNLKALMALAVSYTNTGHQQDACDALKNWIKQNPKYKYLVKSKKGSPGLTRRMSKSPVD
  SSVLEGVKELYLEAAHQNGDMIDPDLQTGLGVLFHLSGEFNRAIDAFNAALTVRPEDYSLWNRLGATLANGDRSE
  EAVEAYTRALEIQPGFIRSRYNLGISCINLGAYREAVSNFLTALSLQRKSRNQQQVPHPAISGNIWAALRIALSL
  MDQPELFQAANLGDLDVLLRAFNLDP

• Structural information:
  • Interpro: IPR024112  IPR024111  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50005 PS50293
  • DIP: 58547
  • STRING: ENSP00000419975
• Other Databases: GeneCards:  PEX5L  Malacards:  PEX5L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016560	protein import into peroxisome matrix, docking	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005052	peroxisome matrix targeting signal-1 binding	IBA	molecular function
GO:0005778	peroxisomal membrane	IBA	cellular component
GO:0043949	regulation of cAMP-mediated signaling	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000268	peroxisome targeting sequence binding	IDA	molecular function
GO:0031267	small GTPase binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04146	Peroxisome

Diseases

Associated diseases	References
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)