2. Gene
  3. PLCE1 - phospholipase C epsilon 1 Gene

PLCE1 - phospholipase C epsilon 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷脂酶 Cepsilon 1

种属: Homo sapiens

同用名: PLCE; PPLC; NPHS3

基因 ID: 51196 | 基因类型: protein coding

关于 PLCE1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:93,993,931-94,332,823 (from NCBI)

This gene has 23 transcripts (splice variants), 223 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 6.3), endometrium (RPKM 5.5) and 21 other tissues.

功能概要

该基因编码一种磷脂酶，该酶催化磷脂酰肌醇-4,5-二磷酸水解，产生两个第二信使：肌醇 1,4,5-三磷酸 (IP3) 和甘油二酯 (DAG) 。这些第二信使随后调节影响细胞生长、分化和基因表达的各种过程。该酶受 Ras 和 Rho 家族的小单体 GTP 酶以及异源三聚体 G 蛋白的调节。除了其磷脂酶 C 催化活性外，该酶还具有具有鸟嘌呤核苷酸交换 (GEF) 活性的 N 末端结构域。该基因的突变会导致早发性肾病综合征；以蛋白尿、水肿和弥漫性系膜硬化或局灶节段性肾小球硬化为特征。可变剪接导致编码不同亚型的多个转录变体。[RefSeq 提供，2009 年 9 月]

This gene encodes a Phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its Phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]

PLCE1 基因产物(3)

mRNA Protein Name
NM_001165979.2 NP_001159451.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 2
NM_001288989.2 NP_001275918.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 3
NM_016341.4 NP_057425.3 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables enzyme binding IPI
IPI: 通过物理相互作用推断
11022048 GOA
enables phosphatidylinositol phospholipase C activity IDA
IDA: 通过直接分析推断
11022047 GOA
enables phospholipase C activity IDA
IDA: 通过直接分析推断
11022047 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11022048 GOA
enables small GTPase binding IDA
IDA: 通过直接分析推断
11022048 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Ras protein signal transduction IDA
IDA: 通过直接分析推断
11022048 GOA
involved in diacylglycerol biosynthetic process IMP
IMP: 通过突变表型推断
29058690 GOA
involved in epidermal growth factor receptor signaling pathway IMP
IMP: 通过突变表型推断
29058690 GOA
involved in glomerulus development IMP
IMP: 通过突变表型推断
17086182 GOA
involved in intracellular signal transduction IDA
IDA: 通过直接分析推断
11022047 GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
11022047 GOA
involved in positive regulation of lamellipodium assembly IMP
IMP: 通过突变表型推断
29058690 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
11022048 GOA
located in lamellipodium IDA
IDA: 通过直接分析推断
29058690 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
11022048 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PLCE1 蛋白结构

RasGEF

RasGEF: RasGEF domain (532 - 715)

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (1328 - 1384)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (1395 - 1541)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (1752 - 1845)

C2

C2: C2 domain (1873 - 1945)

RA

RA: Ras association (RalGDS/AF-6) domain (2136 - 2238)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2302 a.a.
蛋白主名 其他名称

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

PLC-epsilon-1

关联疾病

疾病名称 别名
Nephrotic Syndrome, Type 3

NPHS3

Nephrotic Syndrome Type 3

Nephrotic Syndrome, Early-Onset, Type 3

Early Onset Nephrotic Syndrome Type 3

Nephrotic Syndrome 3

Early-Onset Nephrotic Syndrome Type 3
Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Genetic Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Genetic Srns

Hereditary Steroid-Resistant Nephrotic Syndrome

Familial Idiopathic Nephrotic Syndrome

Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive

Srn1
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis
Diffuse Mesangial Sclerosis

Familial Mesangial Sclerosis

Mesangial Sclerosis, Diffuse

Dms

Diffuse Isolated Mesangial Sclerosis

Isolated Diffuse Mesangial Sclerosis

Nephrotic Syndrome, Early Onset With Diffuse Mesangial Sclerosis
Cardia Cancer

Ca Cardia - Stomach

Malignant Neoplasm Of Cardia Of Stomach
Familial Nephrotic Syndrome

Congenital Nephrotic Syndrome

Nephrosis, Congenital

Finnish Congenital Nephrotic Syndrome
Focal Segmental Glomerulosclerosis 7

FSGS7

Glomerulosclerosis, Focal Segmental, 7

Glomerulosclerosis, Focal Segmental, Type 7
Gastric Cardia Carcinoma

Carcinoma Of Cardia Of Stomach
Congenital Syphilis

Syphilis, Congenital

Congenital Syphilis, Unspecified

Mtct Of Syphilis

Mother-To-Child Transmission Of Syphilis

Syphilis Congenital

Hereditary Syphilis

Heredosyphilis
Pierson Syndrome

Microcoria-Congenital Nephrotic Syndrome

Microcoria-Congenital Nephrosis Syndrome

PIERS

Microcoria - Congenital Nephrosis

Microcoria - Congenital Nephrotic Syndrome

PIERSS
Frasier Syndrome

FS
Gastric Cardia Adenocarcinoma

Adenocarcinoma Of Cardia Of Stomach

Adenocarcinoma Of Gastric Cardia
Denys-Drash Syndrome

Drash Syndrome

DDS

Nephropathy, Wilms Tumor, And Genital Anomalies

Wilms Tumor And Pseudohermaphroditism

Wilms Tumor And Pseudo- Or True Hermaphroditism

Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

Wilms Tumor-Dsd Syndrome

Wilms Tumor-Disorder Of Sex Development Syndrome
Asymptomatic Dengue
Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome
Nail-Patella Syndrome

Turner-Kieser Syndrome

Onychoosteodysplasia

Fong Disease

NPS

Hereditary Onycho-Osteodysplasia

Nps1

Hereditary Onychoostedysplasia

Iliac Horn Syndrome

Nail Patella Syndrome

Turner-Kiser Syndrome

Arthro-Onychodysplasia

Nps 1

Osteo-Onychodysplasia

Hereditary Osteo-Onychodysplasia

Osterreicher Syndrome

Pelvic Horn Syndrome

Österreicher-Turner Syndrome

Nps - [Nail-Patella Syndrome]

Hood - [Hereditary Onycho-Osteodysplasia] Syndrome
Dengue Shock Syndrome

Dss
Galloway-Mowat Syndrome 1

Galloway Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Nephrosis-Microcephaly Syndrome

Camos

Scar5

GAMOS1

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Microcephaly, Hiatal Hernia And Nephrotic Syndrome

Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities

Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly

Scar5, Formerly

Spinocerebellar Ataxia Autosomal Recessive 5

Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities

Camos Syndrome

Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome

Galloway-Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive, 5

Galloway Mowat Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 5
Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus
Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10659 PLCE1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus PLCE1 VGNC VGNC:64209
Macaca mulatta PLCE1 VGNC VGNC:76043
Mus musculus PLCE1 MGD MGI:1921305
Rattus norvegicus PLCE1 RGD RGD:69424
Bos taurus PLCE1 VGNC VGNC:32987
Canis familiaris PLCE1 VGNC VGNC:44650
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