1. Gene
  2. PLCB3 - phospholipase C beta 3 Gene

PLCB3 - phospholipase C beta 3 Gene

中文名称:磷脂酶 C β 3

种属: Homo sapiens

同用名: SMDCD

基因 ID: 5331 | 基因类型: protein coding

关于 PLCB3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,251,530-64,269,452 (from NCBI)

This gene has 4 transcripts (splice variants), 180 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 38.8), small intestine (RPKM 36.6) and 18 other tissues.

功能概要

该基因编码磷酸肌醇磷脂酶 C β 酶家族的成员,该酶家族在 G 蛋白相关受体介导的信号转导中催化从磷脂酰肌醇产生二级信使甘油二酯和肌醇 1,4,5-三磷酸。可变剪接导致多个转录变体。[RefSeq 提供,2010 年 5 月]

This gene encodes a member of the phosphoinositide Phospholipase C beta Enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

PLCB3 基因产物(3)

mRNA Protein Name
NM_000932.5 NP_000923.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 1
NM_001184883.2 NP_001171812.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 isoform 2
NM_001316314.3 NP_001303243.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3 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 calmodulin binding IDA
IDA: 通过直接分析推断
12821674 GOA
enables molecular adaptor activity EXP
EXP: 通过实验结果推断
23377541 GOA
enables molecular adaptor activity IDA
IDA: 通过直接分析推断
23377541 GOA
enables molecular function activator activity EXP
EXP: 通过实验结果推断
23377541 GOA
enables phosphatidylinositol phospholipase C activity IDA
IDA: 通过直接分析推断
9188725 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21822282 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in cytoplasm IDA
IDA: 通过直接分析推断
29122926 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
18468998 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

PLCB3 蛋白结构

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (225 - 314)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (319 - 469)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (589 - 706)

C2

C2: C2 domain (728 - 801)

DUF1154

DUF1154: Protein of unknown function (DUF1154) (948 - 983)

PLC-beta_C

PLC-beta_C: PLC-beta C terminal (1025 - 1200)

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  • 1234 a.a.
蛋白主名 其他名称

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

PLC beta 3

PLCB3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
PLCB3 Q01970 Gnaq Mus musculus P21279 23377541
种属间
PLCB3 Q01970 Gnaq Mus musculus P21279 23377541
种属间
PLCB3 Q01970 Gnaq Mus musculus P21279 23377541
种属间
PLCB3 Q01970 Gnaq Mus musculus P21279 23377541
种属间
PLCB3 Q01970 Gnaq Mus musculus P21279
GMS
23377541
种属间: 跨种属相互作用 种属内: 同种属相互作用

PLCB3 抗体

目录号 产品名 应用 反应物种
HY-P82949 Phospholipase C beta 3 Antibody (YA2694) WB, IHC-P Human

关联疾病

疾病名称 别名
Spondylometaphyseal Dysplasia With Corneal Dystrophy

SMDCD

Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome

Smd-Corneal Dystrophy Syndrome

Multiple Endocrine Neoplasia

Men

Multiple Endocrine Adenomatosis

Multiple Endocrine Neoplasia Syndrome

Adenomatosis, Familial Endocrine

Endocrine Neoplasia, Multiple

Familial Endocrine Adenomatosis

Mea

Multiple Endocrine Neoplasms

Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia, Type I

Multiple Endocrine Neoplasia Type 1

MEN1

Wermer Syndrome

Multiple Endocrine Neoplasia 1

Multiple Endocrine Neoplasia, Type 1

Men I

Endocrine Adenomatosis, Multiple

Mea I

Men Type I

Wermer'S Syndrome

Men1 Syndrome

Multiple Endocrine Adenomatosis

Endocrine Adenomatosis Multiple

Men 1

Familial Multiple Endocrine Neoplasia Type I

Neoplasia, Endocrine, Multiple, Type 1

Multiple Endocrine Neoplasia

Corneal Dystrophy
Spinocerebellar Ataxia, Autosomal Recessive 13

Autosomal Recessive Spinocerebellar Ataxia 13

SCAR13

Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency

Autosomal Recessive Congenital Cerebellar Ataxia Due To Metabotropic Glutamate Receptor 1 Deficiency

Autosomal Recessive Spinocerebellar Ataxia Type 13

Spinocerebellar Ataxia, Autosomal Recessive, 13

Ataxia, Spinocerebellar, Autosomal Recessive, Type 13

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
Felis catus PLCB3 VGNC VGNC:68894
Bos taurus PLCB3 VGNC VGNC:32982
Macaca mulatta PLCB3 VGNC VGNC:76165
Canis familiaris PLCB3 VGNC VGNC:52035
Mus musculus PLCB3 MGD MGI:104778
Rattus norvegicus PLCB3 RGD RGD:61993