PLCD1 - phospholipase C delta 1 Gene

Homo sapiens

Also known as NDNC3; PLC-III

Gene ID: 5333 | Gene type: protein coding

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

PLCD1 Protein Structure

EF-hand_10

EF-hand_like

PI-PLC-X

PI-PLC-Y

0
200
400
600
756 a.a.

Protein Preferred Names

Protein Names

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1

PLC-delta-1

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

Bioactive Molecules (1)

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

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