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

PLCL1 - phospholipase C like 1 (inactive) Gene

中文名称:磷脂酶 C 样 1 (无活性)

种属: Homo sapiens

同用名: PLCE; PLCL; PRIP; PLDL1; PPP1R127

基因 ID: 5334 | 基因类型: protein coding

关于 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.

功能概要

预测启用磷脂酶 C 活性。预计参与冷诱导产热和磷脂酰肌醇介导的信号传导的负调节。预测作用于多个过程的上游或内部,包括γ-氨基丁酸信号通路;调节 GABA 能突触传递;和调节肽基丝氨酸磷酸化。预测位于细胞质和质膜。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(1)

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

PLCL1 蛋白结构

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.
蛋白主名 其他名称

inactive phospholipase C-like protein 1

PLC-L1

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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