• Gene id: 5333

Gene Summary

• Gene Symbol: PLCD1   Gene   UCSC   Ensembl
• Aliases: NDNC3, PLC-III
• Gene name: phospholipase C delta 1
• Alternate names: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1, PLC-delta-1, Phospholipase C I 1, epididymis secretory sperm binding protein, phosphoinositide phospholipase C-delta-1, phospholipase C-III,
• Gene location: 3p22.2 (38029641: 38007495)     Exons: 16     NC_000003.12
• Gene summary(Entrez): This gene encodes a member of the phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglyce
• OMIM: 602142

Protein Summary

• Protein general information: P51178  
  • Name: 1 phosphatidylinositol 4,5 bisphosphate phosphodiesterase delta 1 (EC 3.1.4.11) (Phosphoinositide phospholipase C delta 1) (Phospholipase C III) (PLC III) (Phospholipase C delta 1) (PLC delta 1)
  • Length: 756  
  • Mass: 85665
• Sequence:

  MDSGRDFLTLHGLQDDEDLQALLKGSQLLKVKSSSWRRERFYKLQEDCKTIWQESRKVMRTPESQLFSIEDIQEV
  RMGHRTEGLEKFARDVPEDRCFSIVFKDQRNTLDLIAPSPADAQHWVLGLHKIIHHSGSMDQRQKLQHWIHSCLR
  KADKNKDNKMSFKELQNFLKELNIQVDDSYARKIFRECDHSQTDSLEDEEIEAFYKMLTQRVEIDRTFAEAAGSG
  ETLSVDQLVTFLQHQQREEAAGPALALSLIERYEPSETAKAQRQMTKDGFLMYLLSADGSAFSLAHRRVYQDMGQ
  PLSHYLVSSSHNTYLLEDQLAGPSSTEAYIRALCKGCRCLELDCWDGPNQEPIIYHGYTFTSKILFCDVLRAIRD
  YAFKASPYPVILSLENHCTLEQQRVMARHLHAILGPMLLNRPLDGVTNSLPSPEQLKGKILLKGKKLGGLLPPGG
  EGGPEATVVSDEDEAAEMEDEAVRSRVQHKPKEDKLRLAQELSDMVIYCKSVHFGGFSSPGTPGQAFYEMASFSE
  NRALRLLQESGNGFVRHNVGHLSRIYPAGWRTDSSNYSPVEMWNGGCQIVALNFQTPGPEMDVYQGRFQDNGACG
  YVLKPAFLRDPNGTFNPRALAQGPWWARKRLNIRVISGQQLPKVNKNKNSIVDPKVTVEIHGVSRDVASRQTAVI
  TNNGFNPWWDTEFAFEVVVPDLALIRFLVEDYDASSKNDFIGQSTIPLNSLKQGYRHVHLMSKNGDQHPSATLFV
  KISLQD

• Structural information:
  • Protein Domains: (21..13-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (140..17-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (176..21-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448";-)
  • Interpro: IPR000008  IPR035892  IPR011992  IPR018247  IPR002048   IPR011993  IPR001849  IPR001192  IPR028391  IPR017946  IPR015359  IPR000909  IPR001711  
  • Prosite: PS50004 PS00018 PS50222 PS50003 PS50007 PS50008
  • STRING: ENSP00000430344
• Other Databases: GeneCards:  PLCD1  Malacards:  PLCD1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032959	inositol trisphosphate biosynthetic process	IBA	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IBA	biological process
GO:0051209	release of sequestered calcium ion into cytosol	IBA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IBA	molecular function
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008081	phosphoric diester hydrolase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	TAS	molecular function
GO:0006644	phospholipid metabolic process	TAS	biological process
GO:0004435	phosphatidylinositol phospholipase C activity	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060716	labyrinthine layer blood vessel development	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0032794	GTPase activating protein binding	IPI	molecular function
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05131	Shigellosis
hsa04020	Calcium signaling pathway
hsa04070	Phosphatidylinositol signaling system
hsa04919	Thyroid hormone signaling pathway
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa00562	Inositol phosphate metabolism

Diseases

Associated diseases	References
Nonsyndromic congenital nail disorder	KEGG:H01307
Nonsyndromic congenital nail disorder	KEGG:H01307
Alzheimer's disease	PMID:8534418
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