2. Gene
  3. PLCD1 - phospholipase C delta 1 Gene

PLCD1 - phospholipase C delta 1 Gene

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

中文名称：磷脂酶 C delta 1

种属: Homo sapiens

同用名: NDNC3; PLC-III

基因 ID: 5333 | 基因类型: protein coding

关于 PLCD1

Cytogenetic location: 3p22.2 Genomic coordinates (GRCh38): 3:38,007,496-38,029,642 (from NCBI)

This gene has 9 transcripts (splice variants), 287 orthologues, 14 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 17.3), esophagus (RPKM 7.7) and 24 other tissues.

功能概要

该基因编码磷脂酶 C 家族的一个成员。磷脂酶 C 同工酶通过催化磷脂酰肌醇 4,5-二磷酸 (PIP2) 水解为第二信使甘油二酯 (DAG) 和肌醇三磷酸 (IP3) ，在细胞内信号转导中发挥关键作用。编码的蛋白质在多种类型的癌症中起着肿瘤抑制因子的作用，该基因的突变是遗传性白甲病的一个原因。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a member of the Phospholipase C family. Phospholipase C isozymes play critical roles in intracellular signal transduction by catalyzing the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) into the second messengers diacylglycerol (DAG) and inositol triphosphate (IP3). The encoded protein functions as a tumor suppressor in several types of Cancer, and mutations in this gene are a cause of hereditary leukonychia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

PLCD1 基因产物(2)

mRNA Protein Name
NM_001130964.2 NP_001124436.1 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 1
NM_006225.4 NP_006216.2 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1 isoform 2
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 GTPase activating protein binding IPI
IPI: 通过物理相互作用推断
18434237 GOA
enables phosphatidylinositol phospholipase C activity IDA
IDA: 通过直接分析推断
9188725 GOA
enables phosphatidylinositol-4,5-bisphosphate binding 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
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylinositol metabolic process IDA
IDA: 通过直接分析推断
9188725 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15702972 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

PLCD1 蛋白结构

EF-hand_10

EF-hand_10: EF hand (159 - 209)

EF-hand_like

EF-hand_like: Phosphoinositide-specific phospholipase C, efhand-like (213 - 295)

PI-PLC-X

PI-PLC-X: Phosphatidylinositol-specific phospholipase C, X domain (298 - 441)

PI-PLC-Y

PI-PLC-Y: Phosphatidylinositol-specific phospholipase C, Y domain (491 - 609)

C2

C2: C2 domain (631 - 719)

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

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

PLC-delta-1

PLCD1 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
PLCD1 P51178 NTAQ1 Homo sapiens Q96HA8
Validated Y2H
32296183
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
Nail Disorder, Nonsyndromic Congenital, 3

Leukonychia Totalis

NDNC3

Porcelain Nails

Leukonychia Totalis And/Or Partialis

Nonsyndromic Congenital Nail Disorder 3

Leukonychia Punctata

Leukonychia Striatus

Hereditary White Nails

Total Leukonychia

Nail Disorder, Non-Syndromic Congenital, 3

Leukonychia Partialis
Nonsyndromic Congenital Nail Disorder

Nail Disorder, Nonsyndromic Congenital
Ocular Tuberculosis
Keratoderma, Palmoplantar, With Deafness

Palmoplantar Keratoderma-Deafness Syndrome

Palmoplantar Keratoderma With Deafness

Palmoplantar Hyperkeratosis-Deafness Syndrome

Palmoplantar Hyperkeratosis-Hearing Loss Syndrome

Palmoplantar Keratoderma-Hearing Loss Syndrome

Ppk-Deafness Syndrome

Keratoderma Palmoplantar Deafness

Diffuse Palmoplantar Keratoderma With Deafness

Focal Palmoplantar Keratoderma With Sensorineural Deafness

Hereditary Palmoplantar Keratoderma With Deafness

Keratoderma Palmoplantar, With Deafness

Palmoplantar Keratoderma And Sensorineural Deafness

Ppk With Deafness

PPKDFN

Keratoderma Palmoplantar, Deafness
Bart-Pumphrey Syndrome

Knuckle Pads, Leukonychia, And Sensorineural Deafness

BAPS

Knuckle Pads, Leuconychia And Sensorineural Deafness

Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome

Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome

Knuckle Pads, Deafness And Leukonychia Syndrome

Knuckle Pads, Deafness, And Leukonychia Syndrome

Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome

Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma 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

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-RS10656 PLCD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus PLCD1 RGD RGD:3346
Bos taurus PLCD1 VGNC VGNC:32984
Mus musculus PLCD1 MGD MGI:97614
Canis familiaris PLCD1 VGNC VGNC:44647
Macaca mulatta PLCD1 VGNC VGNC:76166
Felis catus PLCD1 VGNC VGNC:68896
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