1. Gene
  2. CHPT1 - choline phosphotransferase 1 Gene

CHPT1 - choline phosphotransferase 1 Gene

中文名称:胆碱磷酸转移酶 1

种属: Homo sapiens

同用名: CPT; CPT1

基因 ID: 56994 | 基因类型: protein coding

关于 CHPT1

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:101,697,640-101,729,074 (from NCBI)

This gene has 10 transcripts (splice variants), 213 orthologues and 2 paralogues. Ubiquitous expression in testis (RPKM 11.8), duodenum (RPKM 11.3) and 25 other tissues.

功能概要

启用甘油二酯胆碱磷酸转移酶活性。参与磷脂酰胆碱的生物合成过程和血小板活化因子的生物合成过程。预测位于高尔基体膜。预测在高尔基体和内质网膜中具有活性。 [由基因组资源联盟提供,2022 年 4 月]

Enables diacylglycerol cholinephosphotransferase activity. Involved in phosphatidylcholine biosynthetic process and platelet activating factor biosynthetic process. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus and endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

CHPT1 基因产物(1)

mRNA Protein Name
NM_020244.3 NP_064629.2 cholinephosphotransferase 1

CHPT1 蛋白结构

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (60 - 165)

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

cholinephosphotransferase 1

AAPT1-like protein

CHPT1 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
CHPT1 Q8WUD6 TLCD4 Homo sapiens Q96MV1
Y2H Prey Pooling
32296183
种属内
CHPT1 Q8WUD6 TLCD4 Homo sapiens Q96MV1
Validated Y2H
32296183
种属内
CHPT1 Q8WUD6 TLCD4 Homo sapiens Q96MV1
Y2H Array
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

直系同源

种属 基因名 来源 基因 ID
Canis familiaris CHPT1 VGNC VGNC:54196
Bos taurus CHPT1 VGNC VGNC:27314
Macaca mulatta CHPT1 VGNC VGNC:70989
Felis catus CHPT1 VGNC VGNC:60869
Mus musculus CHPT1 MGD MGI:2384841
Rattus norvegicus CHPT1 RGD RGD:1359283