1. Gene
  2. PLCB1 - phospholipase C beta 1 Gene

PLCB1 - phospholipase C beta 1 Gene

中文名称:磷脂酶 C β 1

种属: Homo sapiens

同用名: DEE12; PLC-I; EIEE12; PI-PLC; PLC154; PLCB1A; PLCB1B; PLC-154; PLC-beta-1

基因 ID: 23236 | 基因类型: protein coding

关于 PLCB1

Cytogenetic location: 20p12.3 Genomic coordinates (GRCh38): 20:8,132,266-8,884,900 (from NCBI)

This gene has 34 transcripts (splice variants), 311 orthologues, 14 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 18.8), salivary gland (RPKM 3.8) and 17 other tissues.

功能概要

该基因编码的蛋白质催化磷脂酰肌醇 4,5-二磷酸形成肌醇 1,4,5-三磷酸和甘油二酯。该反应使用钙作为辅助因子,在许多细胞外信号的细胞内转导中起着重要作用。该基因由两个 G 蛋白 α 亚基 alpha-q 和 alpha-11 激活。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

PLCB1 基因产物(2)

mRNA Protein Name
NM_015192.4 NP_056007.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform a
NM_182734.3 NP_877398.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1 isoform b

PLCB1 蛋白结构

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (224 - 314)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (318 - 468)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (539 - 656)

C2

C2: C2 domain (678 - 754)

PLC-beta_C

PLC-beta_C: PLC-beta C terminal (998 - 1172)

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  • 1216 a.a.
蛋白主名 其他名称

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

1-phosphatidyl-D-myo-inositol-4,5-bisphosphate

PLCB1 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
种属内
PLCB1 Q9NQ66 CTBP1 Homo sapiens Q13363-2 25416956
种属内
PLCB1 Q9NQ66 TFCP2 Homo sapiens Q12800 25416956
种属内
PLCB1 Q9NQ66 TFCP2 Homo sapiens Q12800 25416956
种属内
PLCB1 Q9NQ66 CTBP2 Homo sapiens P56545 25416956
种属内
PLCB1 Q9NQ66 CEP76 Homo sapiens Q8TAP6 25416956
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 12

Epileptic Encephalopathy, Early Infantile, 12

DEE12

Eiee12

Early Infantile Epileptic Encephalopathy 12

Developmental And Epileptic Encephalopathy, 12

Encephalopathy, Epileptic, Early Infantile, Type 12

Developmental And Epileptic Encephalopathy 14

Malignant Migrating Partial Seizures Of Infancy

Eiee14

Epilepsy Of Infancy With Migrating Focal Seizures

Mmpsi

DEE14

Epileptic Encephalopathy, Early Infantile, 14

Early Infantile Epileptic Encephalopathy 14

Malignant Migrating Partial Epilepsy Of Infancy

Migrating Partial Epilepsy Of Infancy

Migrating Partial Seizures Of Infancy

Mmpei

Mpei

Mpsi

Malignant Migrating Focal Seizures Of Infancy

Migrating Partial Seizures In Infancy

Developmental And Epileptic Encephalopathy, 14

Encephalopathy, Epileptic, Early Infantile, Type 14

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

West Syndrome

Infantile Spasms

Infantile Spasms Syndrome

Infantile Spasm

X-Linked Infantile Spasm Syndrome

X-Linked Infantile Spasms

Epileptic Encephalopathy, Early Infantile, 1

Is

Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg

West'S Syndrome

Spasms, Infantile

Is -[Infantile Spasm]

Salaam Spasm

Salaam Tic

Cholera

Vibrio Cholerae Infection

Cholera - Vibrio Cholerae

Cholera Due To Vibrio Cholerae

Vibrio Cholerae

Cholera Syndrome

Asiatic Cholera

Epidemic Cholera

Erythroleukemia
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Tangier Disease

Analphalipoproteinemia

High Density Lipoprotein Deficiency, Tangier Type

TGD

High Density Lipoprotein Deficiency, Type 1

Hdldt1

Familial High Density Lipoprotein Deficiency

A-Alphalipoprotein Neuropathy

Alpha High Density Lipoprotein Deficiency Disease

Cholesterol Thesaurismosis

Familial High Density Lipoprotein Deficiency Disease

Hdl Lipoprotein Deficiency Disease

Tangier Disease Neuropathy

Familial Alpha-Lipoprotein Deficiency

Familial High-Density Lipoprotein Deficiency 1

Primary Hypoalphalipoproteinemia 1

Analphalipo-Proteinemia

Familial Hypoalphalipo-Proteinemia

Familial Hypoalphalipoproteinemia

Lipoprotein Deficiency Disease, Hdl, Familial

Tangier Hereditary Neuropathy

Atp-Binding Cassette Transporter A1 Deficiency

Hdld1

High Density Lipoprotein Deficiency 1

Tangier Disease, Variant

Hypoalphalipoproteinemia, Familial

Familial Hdl Deficiency

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

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
Rattus norvegicus PLCB1 RGD RGD:3344
Mus musculus PLCB1 MGD MGI:97613
Canis familiaris PLCB1 VGNC VGNC:44644
Macaca mulatta PLCB1 VGNC VGNC:76033
Bos taurus PLCB1 VGNC VGNC:32980
Felis catus PLCB1 VGNC VGNC:64208