2. Gene
  3. PLD1 - phospholipase D1 Gene

PLD1 - phospholipase D1 Gene

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

中文名称：磷脂酶 D1

种属: Homo sapiens

同用名: CVDD; CVDP1

基因 ID: 5337 | 基因类型: protein coding

关于 PLD1

Cytogenetic location: 3q26.31 Genomic coordinates (GRCh38): 3:171,600,404-171,810,483 (from NCBI)

This gene has 16 transcripts (splice variants), 283 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in gall bladder (RPKM 28.0), duodenum (RPKM 12.6) and 24 other tissues.

功能概要

该基因编码磷脂酰胆碱特异性磷脂酶，该酶催化磷脂酰胆碱的水解以产生磷脂酸和胆碱。该酶可能在信号转导和亚细胞运输中发挥作用。可变剪接导致具有催化和调节特性的多个转录变体。[RefSeq 提供，2011 年 9 月]

This gene encodes a phosphatidylcholine-specific Phospholipase which catalyzes the hydrolysis of phosphatidylcholine in order to yield phosphatidic acid and choline. The Enzyme may play a role in signal transduction and subcellular trafficking. Alternative splicing results in multiple transcript variants with both catalytic and regulatory properties. [provided by RefSeq, Sep 2011]

PLD1 基因产物(2)

mRNA Protein Name
NM_001130081.3 NP_001123553.1 phospholipase D1 isoform b
NM_002662.5 NP_002653.1 phospholipase D1 isoform a

PLD1 蛋白结构

PX

PX: PX domain (83 - 207)

PH

PH: PH domain (223 - 326)

PLDc

PLDc: Phospholipase D Active site motif (459 - 486)

PLDc_2

PLDc_2: PLD-like domain (768 - 937)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1074 a.a.
蛋白主名 其他名称

phospholipase D1

choline phosphatase 1

关联疾病

疾病名称 别名
Cardiac Valvular Dysplasia 1

Cardiac Valvular Defect, Developmental

CVDP1

CVDD

Heart Valve Disease
Coffin-Lowry Syndrome

CLS

Coffin Syndrome 1

Coffin Syndrome

Intellectual Disability With Osteocartilaginous Abnormalities

Dwarfism, Lean Spastic Type

Lean Spastic Dwarfism

Mental Retardation With Osteocartilaginous Abnormalities

Coffin Lowry 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 (10)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-12807 FIPI Inhibitor 99.82% 否
HY-108612 VU0155069 Inhibitor 98.04% 否
HY-119093 Halopemide 99.65% 否
HY-101293 VU0359595 Inhibitor 99.65% 否
HY-155342 A3373 Inhibitor 99.06% 否
HY-12807A FIPI hydrochloride Inhibitor / 否
HY-108612A VU0155069 hydrochloride Inhibitor / 否
HY-108616 VU 0364739 hydrochloride Inhibitor / 否
HY-155343 A4333 Inhibitor / 否
HY-RS10670 PLD1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PLD1 VGNC VGNC:76171
Bos taurus PLD1 VGNC VGNC:50244
Rattus norvegicus PLD1 RGD RGD:3349
Felis catus PLD1 VGNC VGNC:68901
Canis familiaris PLD1 VGNC VGNC:44660
Mus musculus PLD1 MGD MGI:109585
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