• Gene id: 92370

Gene Summary

• Gene Symbol: PXYLP1   Gene   UCSC   Ensembl
• Aliases: ACPL2, HEL124, XYLP
• Gene name: 2-phosphoxylose phosphatase 1
• Alternate names: 2-phosphoxylose phosphatase 1, acid phosphatase-like 2, acid phosphatase-like protein 2, epididymis luminal protein 124, xylosyl phosphatase,
• Gene location: 3q23 (12841581: 12834484)     Exons: 4     NC_000003.12

Protein Summary

• Protein general information: Q8TE99  
  • Name: 2 phosphoxylose phosphatase 1 (EC 3.1.3. ) (Acid phosphatase like protein 2) (Xylosyl phosphatase) (epididymis luminal protein 124)
  • Length: 480  
  • Mass: 55240
  • Tissue specificity: Widely expressed. Strongly expressed in spleen, fetal liver, moderately in placenta, pancreas, kidney, thymus and colon. {ECO
• Sequence:

  MLFRNRFLLLLALAALLAFVSLSLQFFHLIPVSTPKNGMSSKSRKRIMPDPVTEPPVTDPVYEALLYCNIPSVAE
  RSMEGHAPHHFKLVSVHVFIRHGDRYPLYVIPKTKRPEIDCTLVANRKPYHPKLEAFISHMSKGSGASFESPLNS
  LPLYPNHPLCEMGELTQTGVVQHLQNGQLLRDIYLKKHKLLPNDWSADQLYLETTGKSRTLQSGLALLYGFLPDF
  DWKKIYFRHQPSALFCSGSCYCPVRNQYLEKEQRRQYLLRLKNSQLEKTYGEMAKIVDVPTKQLRAANPIDSMLC
  HFCHNVSFPCTRNGCVDMEHFKVIKTHQIEDERERREKKLYFGYSLLGAHPILNQTIGRMQRATEGRKEELFALY
  SAHDVTLSPVLSALGLSEARFPRFAARLIFELWQDREKPSEHSVRILYNGVDVTFHTSFCQDHHKRSPKPMCPLE
  NLVRFVKRDMFVALGGSGTNYYDACHREGF

• Structural information:
  • Interpro: IPR000560  IPR029033  
  • CDD: cd07061
  • STRING: ENSP00000286353
• Other Databases: GeneCards:  PXYLP1  Malacards:  PXYLP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0016791	phosphatase activity	IDA	molecular function
GO:0006024	glycosaminoglycan biosynthetic process	IDA	biological process
GO:0050650	chondroitin sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0010909	positive regulation of heparan sulfate proteoglycan biosynthetic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0016311	dephosphorylation	IEA	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