• Gene id: 122618

Gene Summary

• Gene Symbol: PLD4   Gene   UCSC   Ensembl
• Aliases: C14orf175
• Gene name: phospholipase D family member 4
• Alternate names: 5'-3' exonuclease PLD4, phospholipase D4, PLD 4, choline phosphatase 4, phosphatidylcholine-hydrolyzing phospholipase D4,
• Gene location: 14q32.33 (132814568: 132817563)     Exons: 6     NC_000006.12
• OMIM: 618488

Protein Summary

• Protein general information: Q96BZ4  
  • Name: 5' 3' exonuclease PLD4 (EC 3.1.16.1) (Choline phosphatase 4) (Phosphatidylcholine hydrolyzing phospholipase D4) (Phospholipase D family member 4) (Phospholipase D4) (PLD 4)
  • Length: 506  
  • Mass: 55626
• Sequence:

  MLKPLWKAAVAPTWPCSMPPRRPWDREAGTLQVLGALAVLWLGSVALICLLWQVPRPPTWGQVQPKDVPRSWEHG
  SSPAWEPLEAEARQQRDSCQLVLVESIPQDLPSAAGSPSAQPLGQAWLQLLDTAQESVHVASYYWSLTGPDIGVN
  DSSSQLGEALLQKLQQLLGRNISLAVATSSPTLARTSTDLQVLAARGAHVRQVPMGRLTRGVLHSKFWVVDGRHI
  YMGSANMDWRSLTQVKELGAVIYNCSHLAQDLEKTFQTYWVLGVPKAVLPKTWPQNFSSHFNRFQPFHGLFDGVP
  TTAYFSASPPALCPQGRTRDLEALLAVMGSAQEFIYASVMEYFPTTRFSHPPRYWPVLDNALRAAAFGKGVRVRL
  LVGCGLNTDPTMFPYLRSLQALSNPAANVSVDVKVFIVPVGNHSNIPFSRVNHSKFMVTEKAAYIGTSNWSEDYF
  SSTAGVGLVVTQSPGAQPAGATVQEQLRQLFERDWSSRYAVGLDGQAPGQDCVWQG

• Structural information:
  • Protein Domains: (209..23-)
    1 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153-)
    (423..44-)
    2 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153"-)
  • Interpro: IPR032803  IPR001736  
  • Prosite: PS50035
  • STRING: ENSP00000376372
• Other Databases: GeneCards:  PLD4  Malacards:  PLD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045335	phagocytic vesicle	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0002244	hematopoietic progenitor cell differentiation	IBA	biological process
GO:0032588	trans-Golgi network membrane	IBA	cellular component
GO:0006909	phagocytosis	IBA	biological process
GO:0005783	endoplasmic reticulum	IBA	cellular component
GO:0032588	trans-Golgi network membrane	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0006909	phagocytosis	ISS	biological process
GO:0045335	phagocytic vesicle	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0004630	phospholipase D activity	ISS	NOT|molecular function
GO:1900015	regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0045145	single-stranded DNA 5'-3' exodeoxyribonuclease activity	ISS	molecular function
GO:0004630	phospholipase D activity	ISS	NOT|molecular function
GO:0045335	phagocytic vesicle	ISS	cellular component
GO:0005769	early endosome	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0045087	innate immune response	IEA	biological process
GO:0004518	nuclease activity	IEA	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0004527	exonuclease activity	IEA	molecular function
GO:0006954	inflammatory response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0006259	DNA metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00564	Glycerophospholipid metabolism
hsa00565	Ether lipid metabolism

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq