1. Gene
  2. PCYT1B - phosphate cytidylyltransferase 1B, choline Gene

PCYT1B - phosphate cytidylyltransferase 1B, choline Gene

中文名称:磷酸胞苷酰转移酶 1B,胆碱

种属: Homo sapiens

同用名: CTB; CCTB

基因 ID: 9468 | 基因类型: protein coding

关于 PCYT1B

Cytogenetic location: Xp22.11 Genomic coordinates (GRCh38): X:24,558,087-24,672,887 (from NCBI)

This gene has 4 transcripts (splice variants), 281 orthologues and 2 paralogues. Biased expression in brain (RPKM 6.6), testis (RPKM 2.8) and 7 other tissues.

功能概要

该基因编码的蛋白质属于胞苷酰转移酶家族。它参与磷脂酰胆碱生物合成的调节。已经为该基因发现了几种编码不同亚型的可变剪接转录物变体。[RefSeq 提供,2009 年 9 月]

The protein encoded by this gene belongs to the cytidylyltransferase family. It is involved in the regulation of phosphatidylcholine biosynthesis. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

PCYT1B 基因产物(3)

mRNA Protein Name
NM_001163264.2 NP_001156736.1 choline-phosphate cytidylyltransferase B isoform 2
NM_001163265.2 NP_001156737.1 choline-phosphate cytidylyltransferase B isoform 3
NM_004845.5 NP_004836.2 choline-phosphate cytidylyltransferase B 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 choline-phosphate cytidylyltransferase activity IDA
IDA: 通过直接分析推断
10480912 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
32296183 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 CDP-choline pathway IDA
IDA: 通过直接分析推断
10480912 GOA
involved in phosphatidylcholine biosynthetic process IDA
IDA: 通过直接分析推断
10480912 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
10480912 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

PCYT1B 蛋白结构

CTP_transf_like

CTP_transf_like: Cytidylyltransferase-like (80 - 208)

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

choline-phosphate cytidylyltransferase B

CCT B

关联疾病

疾病名称 别名
Froelich Syndrome

Froehlich'S Syndrome

Froelich'S Syndrome

Adiposogenital Syndrome

Babinski-Froelich Syndrome

Froehlich Syndrome

Newborn Respiratory Distress Syndrome

Hyaline Membrane Disease

Respiratory Distress Syndrome Of Newborn

Neonatal Respiratory Distress

Hmd - Hyaline Membrane Disease

Neonatal Respiratory Distress Syndrome

Pulmonary Hyaline Membrane Disease

Pulmonary Hypoperfusion Syndrome Of Newborn

Respiratory Distress Syndrome, Newborn

Respiratory Distress Syndrome

Cardiorespiratory Distress Syndrome Of Newborn

Distress Respiratory Syndrome Newborn

Idiopathic Respiratory Distress Syndrome

Idiopathic Respiratory Distress Syndrome Of Newborn

Newborn Idiopathic Respiratory Distress Syndrome

Respiratory Distress Syndrome In Newborn

Rds - [Respiratory Distress Syndrome] Of Newborn

Newborn Cardiorespiratory Distress Syndrome

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1

Infantile Epileptic-Dyskinetic Encephalopathy

DEE1

Eiee1

Issx1

Xmesid

X-Linked Infantile Spasm Syndrome 1

X-Linked Infantile Spasm Syndrome

X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome

Developmental And Epileptic Encephalopathy, 1

Infantile Epileptic Dyskinetic Encephalopathy

Infantile Spasm Syndrome, X-Linked 1

West Syndrome, X-Linked

Ohtahara Syndrome, X-Linked

Early Infantile Epileptic Encephalopathy 1

Early Infantile Epileptic Encephalopathy-1

Issx

X-Linked Ohtahara Syndrome

X-Linked West Syndrome

Infantile Spasm Syndrome X-Linked 1

Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity

Ohtahara Syndrome X-Linked

West Syndrome X-Linked

Encephalopathy, Epileptic, Early Infantile, Type 1

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 PCYT1B RGD RGD:708434
Canis familiaris PCYT1B VGNC VGNC:44330
Felis catus PCYT1B VGNC VGNC:68740
Bos taurus PCYT1B VGNC VGNC:32653
Macaca mulatta PCYT1B VGNC VGNC:75790
Mus musculus PCYT1B MGD MGI:2147987