2. Gene
  3. CEPT1 - choline/ethanolamine phosphotransferase 1 Gene

CEPT1 - choline/ethanolamine phosphotransferase 1 Gene

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

中文名称：胆碱/乙醇胺磷酸转移酶 1

种属: Homo sapiens

基因 ID: 10390 | 基因类型: protein coding

关于 CEPT1

Cytogenetic location: 1p13.3 Genomic coordinates (GRCh38): 1:111,139,499-111,185,104 (from NCBI)

This gene has 13 transcripts (splice variants), 240 orthologues and 2 paralogues. Ubiquitous expression in spleen (RPKM 19.9), lymph node (RPKM 17.1) and 25 other tissues.

功能概要

该基因编码胆碱/乙醇胺磷酸转移酶，其在含胆碱或乙醇胺的磷脂的合成中发挥作用。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 8 月]

This gene codes for a choline/ethanolaminephosphotransferase, which functions in the synthesis of choline- or ethanolamine- containing Phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]

CEPT1 基因产物(4)

mRNA Protein Name
NM_001007794.3 NP_001007795.1 choline/ethanolaminephosphotransferase 1 isoform 1
NM_001330743.2 NP_001317672.1 choline/ethanolaminephosphotransferase 1 isoform 1
NM_001410844.1 NP_001397773.1 choline/ethanolaminephosphotransferase 1 isoform 2
NM_006090.5 NP_006081.1 choline/ethanolaminephosphotransferase 1 isoform 1
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 diacylglycerol cholinephosphotransferase activity IDA
IDA: 通过直接分析推断
10191259 GOA
enables ethanolaminephosphotransferase activity IDA
IDA: 通过直接分析推断
10191259 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 phosphatidylcholine biosynthetic process IDA
IDA: 通过直接分析推断
10191259 GOA
involved in phosphatidylethanolamine biosynthetic process IDA
IDA: 通过直接分析推断
10191259 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
12221122 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

CEPT1 蛋白结构

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (82 - 184)

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

choline/ethanolaminephosphotransferase 1

1-alkenyl-2-acylglycerol choline phosphotransferase

CEPT1 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
CEPT1 Q9Y6K0 TMEM14B Homo sapiens Q9NUH8
Y2H Array
32296183
种属内
CEPT1 Q9Y6K0 TMEM14B Homo sapiens Q9NUH8
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
Neuronopathy, Distal Hereditary Motor, Type Viia

HMN7A

Hmn Viia

Dhmn7a

Neuropathy, Distal Hereditary Motor, Type Viia

Dhmnvp

Harper-Young Myopathy

Distal Hereditary Motor Neuronopathy Type 7a

Distal Hereditary Motor Neuropathy Type Viia

Neuronopathy, Distal Hereditary Motor, Type 7a

Spinal Muscular Atrophy, Distal, With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7a

Harper-Young Myopath

Neuronopathy, Distal Hereditary Motor, 7a

Distal Hereditary Motor Neuronopathy Type Viia

Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis

Neuropathy, Motor, Distal, Hereditary, Type Viia
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-RS02531 CEPT1 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 CEPT1 RGD RGD:1359727
Macaca mulatta CEPT1 VGNC VGNC:71087
Mus musculus CEPT1 MGD MGI:2139793
Felis catus CEPT1 VGNC VGNC:80165
Bos taurus CEPT1 VGNC VGNC:27220
Canis familiaris CEPT1 VGNC VGNC:39144
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