1. Gene
  2. PCYT2 - phosphate cytidylyltransferase 2, ethanolamine Gene

PCYT2 - phosphate cytidylyltransferase 2, ethanolamine Gene

中文名称:磷酸胞苷酰转移酶 2,乙醇胺

种属: Homo sapiens

同用名: ET; SPG82

基因 ID: 5833 | 基因类型: protein coding

关于 PCYT2

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:81,900,958-81,911,399 (from NCBI)

This gene has 18 transcripts (splice variants), 268 orthologues, 2 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 31.9), duodenum (RPKM 10.8) and 22 other tissues.

功能概要

该基因编码一种酶,该酶在磷脂合成的肯尼迪途径中催化 CTP 和磷酸乙醇胺形成 CDP-乙醇胺。可变剪接导致多个转录本变体。[RefSeq 提供,2010 年 5 月]

This gene encodes an Enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

PCYT2 基因产物(8)

mRNA Protein Name
NM_001184917.3 NP_001171846.1 ethanolamine-phosphate cytidylyltransferase isoform 1
NM_001256433.3 NP_001243362.1 ethanolamine-phosphate cytidylyltransferase isoform 5
NM_001256434.3 NP_001243363.1 ethanolamine-phosphate cytidylyltransferase isoform 3
NM_001256435.3 NP_001243364.1 ethanolamine-phosphate cytidylyltransferase isoform 4
NM_001282203.2 NP_001269132.1 ethanolamine-phosphate cytidylyltransferase isoform 4
NM_001282204.2 NP_001269133.1 ethanolamine-phosphate cytidylyltransferase isoform 6
NM_001330518.2 NP_001317447.1 ethanolamine-phosphate cytidylyltransferase isoform 7
NM_002861.5 NP_002852.1 ethanolamine-phosphate cytidylyltransferase isoform 2
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ethanolamine-phosphate cytidylyltransferase activity IMP
IMP: 通过突变表型推断
31637422 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylethanolamine biosynthetic process IMP
IMP: 通过突变表型推断
31637422 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

PCYT2 蛋白结构

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (26 - 150)

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (218 - 308)

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

ethanolamine-phosphate cytidylyltransferase

CTP:phosphoethanolamine cytidylyltransferase

PCYT2 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
PCYT2 Q99447 REL Homo sapiens Q04864-2
Y2H Array
32296183
种属内
PCYT2 Q99447 REL Homo sapiens Q04864-2
Y2H Prey Pooling
32296183
种属内
PCYT2 Q99447 CLVS2 Homo sapiens Q5SYC1
Y2H Prey Pooling
32296183
种属内
PCYT2 Q99447 CLVS2 Homo sapiens Q5SYC1
Y2H Array
32296183
种属内
PCYT2 Q99447 INPPL1 Homo sapiens O15357
Anti Tag CoIP
33961781
种属内
PCYT2 Q99447 INPPL1 Homo sapiens O15357
Anti Tag CoIP
28514442
种属内
PCYT2 Q99447 INCA1 Homo sapiens Q0VD86
Y2H Array
32296183
种属内
PCYT2 Q99447 INCA1 Homo sapiens Q0VD86
Y2H Prey Pooling
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
Spastic Paraplegia 82, Autosomal Recessive

SPG82

Hereditary Spastic Paraplegia 82

Spastic Paraplegia 82 Autosomal Recessive

Doid:0112343

Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349

Spastic Paraplegia 83, Autosomal Recessive

SPG83

Hereditary Spastic Paraplegia 83

Spastic Paraplegia 83 Autosomal Recessive

Doid:0112346

Paraplegia, Spastic, Type 83, Autosomal Recessive

Spastic Paraplegia 79, Autosomal Recessive

Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome

SPG79

Neurodegeneration With Optic Atrophy, Childhood-Onset

Ndgoa

Hereditary Spastic Paraplegia 79

Spastic Paraplegia 79 Autosomal Recessive

Doid:0112344

Neurodegeneration, With Optic Atrophy, Childhood-Onset

Ciliary Dyskinesia, Primary, 22

Primary Ciliary Dyskinesia 22

CILD22

Primary Ciliary Dyskinesia 22 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 22, With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, 22

Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy

Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome

SMDCRD

Smd-Crd

Dysplasia, Spondylometaphyseal, With Cone-Rod Dystrophy

Spastic Paraplegia 80, Autosomal Dominant

SPG80

Hereditary Spastic Paraplegia 80

Spastic Paraplegia 80 Autosomal Dominant

Doid:0112341

Motion Sickness

Airsickness

Carsickness

Seasickness

Travel Sickness

Riders' Vertigo

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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 PCYT2 RGD RGD:619970
Bos taurus PCYT2 VGNC VGNC:32654
Mus musculus PCYT2 MGD MGI:1915921
Macaca mulatta PCYT2 VGNC VGNC:75791
Felis catus PCYT2 VGNC VGNC:68741
Canis familiaris PCYT2 VGNC VGNC:44331