PLCD1 - phospholipase C delta 1 Gene

Also Known as NDNC3; PLC-III

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5333

About PLCD1

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,007,496-38,029,642 (from NCBI)

This gene has 9 transcripts (splice variants), 287 orthologues, 14 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 17.3), esophagus (RPKM 7.7) and 24 other tissues.

Summary

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 diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of Cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

PLCD1 Products (2)

mRNA	Protein	Name
NM_001130964.2	NP_001124436.1	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 1
NM_006225.4	NP_006216.2	1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables GTPase activating protein binding	IPI IPI: Inferred from physical interaction	18434237	GOA
enables phosphatidylinositol phospholipase C activity	IDA IDA: Inferred from direct assay	9188725	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	9188725	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in phosphatidylinositol metabolic process	IDA IDA: Inferred from direct assay	9188725	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15702972	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PLCD1 Protein Structure

EF-hand_10

EF-hand_like

PI-PLC-X

PI-PLC-Y

C2

0
200
400
600
756 a.a.

Protein Preferred Names	Protein Names
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1	PLC-delta-1

PLCD1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PLCD1	P51178	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Nail Disorder, Nonsyndromic Congenital, 3	Leukonychia Totalis NDNC3 Porcelain Nails Leukonychia Totalis And/Or Partialis Nonsyndromic Congenital Nail Disorder 3 Leukonychia Punctata Leukonychia Striatus Hereditary White Nails Total Leukonychia Nail Disorder, Non-Syndromic Congenital, 3 Leukonychia Partialis
Nonsyndromic Congenital Nail Disorder	Nail Disorder, Nonsyndromic Congenital
Ocular Tuberculosis
Keratoderma, Palmoplantar, With Deafness	Palmoplantar Keratoderma-Deafness Syndrome Palmoplantar Keratoderma With Deafness Palmoplantar Hyperkeratosis-Deafness Syndrome Palmoplantar Hyperkeratosis-Hearing Loss Syndrome Palmoplantar Keratoderma-Hearing Loss Syndrome Ppk-Deafness Syndrome Keratoderma Palmoplantar Deafness Diffuse Palmoplantar Keratoderma With Deafness Focal Palmoplantar Keratoderma With Sensorineural Deafness Hereditary Palmoplantar Keratoderma With Deafness Keratoderma Palmoplantar, With Deafness Palmoplantar Keratoderma And Sensorineural Deafness Ppk With Deafness PPKDFN Keratoderma Palmoplantar, Deafness
Bart-Pumphrey Syndrome	Knuckle Pads, Leukonychia, And Sensorineural Deafness BAPS Knuckle Pads, Leuconychia And Sensorineural Deafness Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome Knuckle Pads, Deafness And Leukonychia Syndrome Knuckle Pads, Deafness, And Leukonychia Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10656	PLCD1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PLCD1	RGD	RGD:3346
Bos taurus	PLCD1	VGNC	VGNC:32984
Mus musculus	PLCD1	MGD	MGI:97614
Canis familiaris	PLCD1	VGNC	VGNC:44647
Macaca mulatta	PLCD1	VGNC	VGNC:76166
Felis catus	PLCD1	VGNC	VGNC:68896
Others	PLCD1	NCBI