1. Gene
  2. PLCD3 - phospholipase C delta 3 Gene

PLCD3 - phospholipase C delta 3 Gene

中文名称:磷脂酶 C delta 3

种属: Homo sapiens

同用名: PLC-delta-3

基因 ID: 113026 | 基因类型: protein coding

关于 PLCD3

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:45,108,959-45,132,515 (from NCBI)

This gene has 12 transcripts (splice variants), 292 orthologues and 14 paralogues. Broad expression in colon (RPKM 22.8), urinary bladder (RPKM 21.5) and 20 other tissues.

功能概要

该基因编码磷脂酶 C 家族的一个成员,该家族催化磷脂酰肌醇 4,5-二磷酸水解生成第二信使甘油二酯和肌醇 1,4,5-三磷酸 (IP3) 。二酰基甘油和 IP3 通过诱导蛋白激酶 C 和增加细胞溶质 CA (2+) 浓度来介导对细胞外刺激的多种细胞反应。这种酶定位于质膜并需要钙来激活。它的活性被精胺、鞘氨醇和几种磷脂抑制。[RefSeq 提供,2008 年 7 月]

This gene encodes a member of the Phospholipase C family, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate to generate the second messengers diacylglycerol and inositol 1,4,5-trisphosphate (IP3). Diacylglycerol and IP3 mediate a variety of cellular responses to extracellular stimuli by inducing protein kinase C and increasing cytosolic CA(2+) concentrations. This enzyme localizes to the plasma membrane and requires calcium for activation. Its activity is inhibited by spermine, sphingosine, and several Phospholipids. [provided by RefSeq, Jul 2008]

PLCD3 基因产物(1)

mRNA Protein Name
NM_133373.5 NP_588614.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3

PLCD3 蛋白结构

EF-hand_10

EF-hand_10: EF hand (201 - 250)

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (255 - 335)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (339 - 483)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (527 - 643)

C2

C2: C2 domain (661 - 750)

  • 0
  • 200
  • 400
  • 600
  • 788 a.a.
蛋白主名 其他名称

1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-3

1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase delta-3

关联疾病

疾病名称 别名
Adult Pineal Parenchymal Tumor

Adult Pineal Parenchymal Neoplasm

Adult Pineoblastoma
Craniofacial Microsomia

Goldenhar Syndrome

Hemifacial Microsomia

Oculoauriculovertebral Spectrum

Oavs

Oculo-Auriculo-Vertebral Spectrum

CFM

Oav Dysplasia

Facioauriculovertebral Sequence

Fav Sequence

First And Second Branchial Arch Syndrome

Otomandibular Dysostosis

Hfm

Oculoauriculovertebral Dysplasia

Facio-Auriculo-Vertebral Spectrum

Facioauriculovertebral Dysplasia

Oculo-Auriculo-Vertebral Dysplasia

First Arch Syndrome

Oav Dysplasia

Goldenhar Disease

Expanded Spectrum Hemifacial Microsomia

Expanded Spectrum Of Hemifacial Microsomia

Oculoauriculovertebral Syndrome

Oavd

Asymmetric Hypoplasia Of Facial Structures

Auriculobranchiogenic Dysplasia

Fav

First And Second Pharyngeal Arch Syndromes

Goldenhar-Gorlin Syndrome

Lateral Facial Dysplasia

Oav Complex

Oral-Mandibular-Auricular Syndrome

Unilateral Intrauterine Facial Necrosis

Unilateral Mandibulofacial Dysostosis

Oav Spectrum

Oculoauricular Vertebral Dysplasia

Microsomia, Hemifacial

Goldenhar Syndrome With Ipsilateral Radial Defect

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
Mus musculus PLCD3 MGD MGI:107451
Bos taurus PLCD3 VGNC VGNC:32985
Rattus norvegicus PLCD3 RGD RGD:1310903
Macaca mulatta PLCD3 VGNC VGNC:99205
Felis catus PLCD3 VGNC VGNC:68897
Canis familiaris PLCD3 VGNC VGNC:44648