• Gene id: 55344

Gene Summary

• Gene Symbol: PLCXD1   Gene   UCSC   Ensembl
• Aliases: LL0XNC01-136G2.1
• Gene name: phosphatidylinositol specific phospholipase C X domain containing 1
• Alternate names: PI-PLC X domain-containing protein 1,
• Gene location: Xp22.33 and Yp11.32-p11.31 (276355: 303355)     Exons: 12     NC_000023.11
• Gene summary(Entrez): This gene is the most terminal protein-coding gene in the pseudoautosomal (PAR) region on chromosomes X and Y. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
• OMIM: 118820

Protein Summary

• Protein general information: Q9NUJ7  
  • Name: PI PLC X domain containing protein 1
  • Length: 323  
  • Mass: 36668
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MGGQVSASNSFSRLHCRNANEDWMSALCPRLWDVPLHHLSIPGSHDTMTYCLNKKSPISHEESRLLQLLNKALPC
  ITRPVVLKWSVTQALDVTEQLDAGVRYLDLRIAHMLEGSEKNLHFVHMVYTTALVEDTLTEISEWLERHPREVVI
  LACRNFEGLSEDLHEYLVACIKNIFGDMLCPRGEVPTLRQLWSRGQQVIVSYEDESSLRRHHELWPGVPYWWGNR
  VKTEALIRYLETMKSCGRPGGLFVAGINLTENLQYVLAHPSESLEKMTLPNLPRLSAWVREQCPGPGSRCTNIIA
  GDFIGADGFVSDVIALNQKLLWC

• Structural information:
  • Protein Domains: (30..20-)
    (/note="PI-PLC-X-box)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00270"-)
  • Interpro: IPR017946  IPR042158  IPR000909  
  • Prosite: PS50007
  • CDD: cd08616
  • STRING: ENSP00000371073
• Other Databases: GeneCards:  PLCXD1  Malacards:  PLCXD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R