Species

Homo sapiens

Symbol

PLCD1

Name

phospholipase C delta 1

Synonyms

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

Biotype

protein coding gene

Automated Description

Enables GTPase activating protein binding activity; phosphatidylinositol phospholipase C activity; and phosphatidylinositol-4,5-bisphosphate binding activity. Involved in phosphatidylinositol metabolic process. Located in cytoplasm. Implicated in nonsyndromic congenital nail disorder 3. Biomarker of Alzheimer's disease.

RGD Description

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]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR10336

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

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Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

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Sequence Feature Viewer

Genome location

Chr3:38007496...38029642 - (22.15 kb)

Assembly version

GRCh38

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Data currently unavailable; sequence viewer under construction

Sequence Details

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Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

PLCD1 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

PLCD1 role	PLCD1 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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