1. Gene
  2. PLD3 - phospholipase D family member 3 Gene

PLD3 - phospholipase D family member 3 Gene

中文名称:磷脂酶 D 家族成员 3

种属: Homo sapiens

同用名: AD19; HUK4; HU-K4; SCA46

基因 ID: 23646 | 基因类型: protein coding

关于 PLD3

Cytogenetic location: 19q13.2 Genomic coordinates (GRCh38): 19:40,348,695-40,378,485 (from NCBI)

This gene has 48 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 96.3), spleen (RPKM 74.5) and 25 other tissues.

功能概要

该基因编码催化膜磷脂水解的磷脂酶 D (PLD) 家族的成员。编码的蛋白质是一种单程 II 型膜蛋白,包含两个 PLD 磷酸二酯酶结构域。这种蛋白质影响淀粉样蛋白前体蛋白的加工。该基因的突变与阿尔茨海默病风险有关。已发现该基因编码相同蛋白质的可变剪接转录物变体。[RefSeq 提供,2014 年 4 月]

This gene encodes a member of the Phospholipase D (PLD) family of Enzymes that catalyze the hydrolysis of membrane Phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

PLD3 基因产物(3)

mRNA Protein Name
NM_001031696.4 NP_001026866.1 5'-3' exonuclease PLD3
NM_001291311.2 NP_001278240.1 5'-3' exonuclease PLD3
NM_012268.4 NP_036400.2 5'-3' exonuclease PLD3
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 protein binding IPI
IPI: 通过物理相互作用推断
20195357 GOA
enables single-stranded DNA 5'-3' DNA exonuclease activity IDA
IDA: 通过直接分析推断
30312375 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in myotube differentiation IDA
IDA: 通过直接分析推断
22428023 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi membrane IDA
IDA: 通过直接分析推断
29368044 GOA
located in early endosome membrane IDA
IDA: 通过直接分析推断
29386126 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15794758 GOA
located in late endosome membrane IDA
IDA: 通过直接分析推断
29386126 GOA
located in lysosomal lumen IDA
IDA: 通过直接分析推断
30312375 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

PLD3 蛋白结构

PLDc_3

PLDc_3: PLD-like domain (223 - 402)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 490 a.a.
蛋白主名 其他名称

5'-3' exonuclease PLD3

choline phosphatase 3

PLD3 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
Intra PLD3 Q8IV08 CNIH3 Homo sapiens Q8TBE1
Validated Y2H
32296183
Intra PLD3 Q8IV08 OPRM1 Homo sapiens P35372-10
Y2H Prey Pooling
32296183
Intra PLD3 Q8IV08 OPRM1 Homo sapiens P35372-10
Y2H Array
32296183
Intra PLD3 Q8IV08 NFKB1 Homo sapiens P19838
TAP
20195357
Intra PLD3 Q8IV08 NFKB1 Homo sapiens P19838
Display Tech
20195357
Intra PLD3 Q8IV08 SMCO4 Homo sapiens Q9NRQ5
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
Spinocerebellar Ataxia 46

SCA46

Spinocerebellar Ataxia, 46, Autosomal Dominant, With Sensory Axonal Neuropathy

Spinocerebellar Ataxia Type 46

Acute Hemorrhagic Conjunctivitis

Viral Conjunctivitis

Conjunctivitis, Acute Hemorrhagic

Apollo Disease

Epidemic Hemorrhagic Conjunctivitis

Viral Conjunctiva Disorder

Viral Conjunctivitis Nos

Shipyard Eye

Epidemic Keratoconjunctivitis

Ekc

Conjunctival Folliculosis

Acute Follicular Conjunctivitis

Acute Conjunctivitis
Cerebellar Ataxia Type 41

Sca41

Nephrotic Syndrome, Type 7

Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 7

NPHS7

Nephrotic Syndrome Type 7

Ig-Mediated Membranoproliferative Glomerulonephritis

Ig-Mediated Mpgn

Immunoglobulin-Mediated Mpgn

Nephrotic Syndrome, Type 7, With Membranoproliferative Glomerulonephritis

Hemolytic Uremic Syndrome, Atypical 7

Nephrotic Syndrome Type 7 With Membranoptoliferative Glomerulonephritis

Hemolytic Uremic Syndrome With Dgke Deficiency

Hus With Dgke Deficiency

Hemolytic Uremic Syndrome Atypical 7

AHUS7

Nephrotic Syndrome 7

Nephrotic Syndrome Type 7 With Membranoproliferative Glomerulonephritis

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Spinocerebellar Ataxia, Autosomal Recessive 21

SCAR21

Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 21, With Hepatopathy

Cholestasis, Low Ggt, Acute Liver Failure, And Neurodegeneration Syndrome

Calfan

Autosomal Recessive Spinocerebellar Ataxia 21

Autosomal Recessive Spinocerebellar Ataxia 21 With Hepatopathy

Autosomal Recessive Spinocerebellar Ataxia Type 21

Spinocerebellar Ataxia, Autosomal Recessive, 21

Calfan Syndrome

Spinocerebellar Ataxia, Autosomal Recessive 23

SCAR23

Autosomal Recessive Spinocerebellar Ataxia 23

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency

Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 23

Spinocerebellar Ataxia, Autosomal Recessive, 23

Ataxia, Spinocerebellar, Autosomal Recessive, Type 23

Cerebellar Ataxia Type 43

Sca43

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Inclusion Conjunctivitis

Chlamydial Conjunctivitis

Inclusion Blennorrhoea

Paratrachoma

Adult Inclusion Conjunctivitis

Inclusion Blenorrhea

Conjunctivitis, Inclusion

Neonatal Chlamydial Conjunctivitis

Inclusion Conjunctivitis Of The Adult

Chronic Conjunctivitis Due To Chlamydia Trachomatis

Inclusion Conjunctivitis Due To Chlamydia Trachomatis

Acute Follicular Conjunctivitis, Chlamydial

Adult Chlamydial Keratoconjunctivitis

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 PLD3 RGD RGD:1308248
Canis familiaris PLD3 VGNC VGNC:44662
Macaca mulatta PLD3 VGNC VGNC:76041
Bos taurus PLD3 VGNC VGNC:32997
Mus musculus PLD3 MGD MGI:1333782
Felis catus PLD3 VGNC VGNC:64213