1. Gene
  2. PLCL1 - phospholipase C like 1 (inactive) Gene

PLCL1 - phospholipase C like 1 (inactive) Gene

Homo sapiens

Also known as PLCE; PLCL; PRIP; PLDL1; PPP1R127

Gene ID: 5334 | Gene type: protein coding

About PLCL1

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:197,804,593-198,149,863 (from NCBI)

This gene has 6 transcripts (splice variants), 219 orthologues and 14 paralogues. Broad expression in kidney (RPKM 12.7), heart (RPKM 9.4) and 16 other tissues.

Summary

Predicted to enable Phospholipase C activity. Predicted to be involved in negative regulation of cold-induced thermogenesis and phosphatidylinositol-mediated signaling. Predicted to act upstream of or within several processes, including gamma-aminobutyric acid signaling pathway; regulation of GABAergic synaptic transmission; and regulation of peptidyl-serine phosphorylation. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLCL1 Products(1)

mRNA Protein Name
NM_006226.4 NP_006217.3 inactive phospholipase C-like protein 1

PLCL1 Protein Structure

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (315 - 396)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (400 - 543)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (584 - 701)

C2

C2: C2 domain (723 - 812)

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  • 1095 a.a.
Protein Preferred Names Protein Names

inactive phospholipase C-like protein 1

PLC-L1

Related Diseases

Diseases Alias
Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder

Adult Dermatomyositis

Adult Onset Dermatomyositis

Adult Type Dermatomyositis

Childhood Type Dermatomyositis

Juvenile Dermatomyositis

Juvenile Dm

Childhood Dermatomyositis

Amyopathic Dermatomyositis

Adm

Dermatomyositis Sine Myositis

Dermatomyositis, Childhood Type

Astigmatism
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

Orthologs Information

Species Symbol Source ID
Macaca mulatta PLCL1 VGNC VGNC:99393
Canis familiaris PLCL1 VGNC VGNC:56162
Mus musculus PLCL1 MGD MGI:3036262
Rattus norvegicus PLCL1 RGD RGD:708420
Bos taurus PLCL1 VGNC VGNC:56161