• Gene id: 23646

Gene Summary

• Gene Symbol: PLD3   Gene   UCSC   Ensembl
• Aliases: AD19, HU-K4, HUK4, SCA46
• Gene name: phospholipase D family member 3
• Alternate names: 5'-3' exonuclease PLD3, phospholipase D3, choline phosphatase 3, hindIII K4L homolog, phosphatidylcholine-hydrolyzing phospholipase D3,
• Gene location: 19q13.2 (40348394: 40378489)     Exons: 15     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein in
• OMIM: 604293

Protein Summary

• Protein general information: Q8IV08  
  • Name: 5' 3' exonuclease PLD3 (EC 3.1.16.1) (Choline phosphatase 3) (HindIII K4L homolog) (Hu K4) (Phosphatidylcholine hydrolyzing phospholipase D3) (Phospholipase D3) (PLD 3)
  • Length: 490  
  • Mass: 54705
  • Tissue specificity: Widely expressed. In the brain, high levels of expression are detected in the frontal, temporal and occipital cortices and hippocampus. Expressed at low level in corpus callosum. {ECO
• Sequence:

  MKPKLMYQELKVPAEEPANELPMNEIEAWKAAEKKARWVLLVLILAVVGFGALMTQLFLWEYGDLHLFGPNQRPA
  PCYDPCEAVLVESIPEGLDFPNASTGNPSTSQAWLGLLAGAHSSLDIASFYWTLTNNDTHTQEPSAQQGEEVLRQ
  LQTLAPKGVNVRIAVSKPSGPQPQADLQALLQSGAQVRMVDMQKLTHGVLHTKFWVVDQTHFYLGSANMDWRSLT
  QVKELGVVMYNCSCLARDLTKIFEAYWFLGQAGSSIPSTWPRFYDTRYNQETPMEICLNGTPALAYLASAPPPLC
  PSGRTPDLKALLNVVDNARSFIYVAVMNYLPTLEFSHPHRFWPAIDDGLRRATYERGVKVRLLISCWGHSEPSMR
  AFLLSLAALRDNHTHSDIQVKLFVVPADEAQARIPYARVNHNKYMVTERATYIGTSNWSGNYFTETAGTSLLVTQ
  NGRGGLRSQLEAIFLRDWDSPYSHDLDTSADSVGNACRLL

• Structural information:
  • Protein Domains: (196..22-)
    1 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153-)
    (411..43-)
    2 (/note="PLD-phosphodiesterase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00153"-)
  • Interpro: IPR032803  IPR001736  
  • Prosite: PS50035
  • STRING: ENSP00000387050
• Other Databases: GeneCards:  PLD3  Malacards:  PLD3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	IDA	cellular component
GO:0014902	myotube differentiation	IDA	biological process
GO:0031902	late endosome membrane	IDA	cellular component
GO:0031901	early endosome membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0045145	single-stranded DNA 5'-3' exodeoxyribonuclease activity	IDA	molecular function
GO:0043202	lysosomal lumen	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:1900015	regulation of cytokine production involved in inflammatory response	ISS	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0002376	immune system process	IEA	biological process
GO:0005764	lysosome	IEA	cellular component
GO:0006954	inflammatory response	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004527	exonuclease activity	IEA	molecular function
GO:0004630	phospholipase D activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005765	lysosomal membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0045145	single-stranded DNA 5'-3' exodeoxyribonuclease activity	IEA	molecular function
GO:1900015	regulation of cytokine production involved in inflammatory response	IEA	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0031902	late endosome membrane	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0043202	lysosomal lumen	IEA	cellular component
GO:0010008	endosome membrane	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:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0006259	DNA metabolic process	IEA	biological process
GO:0006259	DNA metabolic process	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

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

Diseases

Associated diseases	References
Spinocerebellar ataxia	KEGG:H00063
Spinocerebellar ataxia	KEGG:H00063
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq