1. Gene
  2. PCK1 - phosphoenolpyruvate carboxykinase 1 Gene

PCK1 - phosphoenolpyruvate carboxykinase 1 Gene

中文名称:磷酸烯醇丙酮酸羧激酶 1

种属: Homo sapiens

同用名: PCKDC; PEPCK1; PEPCKC; PEPCK-C

基因 ID: 5105 | 基因类型: protein coding

关于 PCK1

Cytogenetic location: 20q13.31 Genomic coordinates (GRCh38): 20:57,561,110-57,568,121 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 1 paralogue and is associated with 2 phenotypes. Biased expression in liver (RPKM 471.7), kidney (RPKM 448.1) and 4 other tissues.

功能概要

该基因是调节糖异生的主要控制点。由该基因编码的胞质酶与 GTP 一起催化草酰乙酸形成磷酸烯醇丙酮酸,同时释放二氧化碳和 GDP。该基因的表达可以通过胰岛素、糖皮质激素、胰高血糖素、cAMP 和饮食进行调节。该基因的缺陷是细胞溶质磷酸烯醇丙酮酸羧激酶缺乏症的原因。所编码蛋白质的线粒体同功酶也已被表征。[RefSeq 提供,2008 年 7 月]

This gene is a main control point for the regulation of gluconeogenesis. The cytosolic enzyme encoded by this gene, along with GTP, catalyzes the formation of phosphoenolpyruvate from oxaloacetate, with the release of carbon dioxide and GDP. The expression of this gene can be regulated by Insulin, glucocorticoids, glucagon, cAMP, and diet. Defects in this gene are a cause of cytosolic phosphoenolpyruvate carboxykinase deficiency. A mitochondrial isozyme of the encoded protein also has been characterized. [provided by RefSeq, Jul 2008]

PCK1 基因产物(1)

mRNA Protein Name
NM_002591.4 NP_002582.3 phosphoenolpyruvate carboxykinase, cytosolic [GTP]
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 GTP binding IDA
IDA: 通过直接分析推断
11851336 GOA
enables carboxylic acid binding IDA
IDA: 通过直接分析推断
11851336 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
11851336 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
11851336 GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity EXP
EXP: 通过实验结果推断
11851336 GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity IDA
IDA: 通过直接分析推断
30193097 GOA
enables phosphoenolpyruvate carboxykinase (GTP) activity IMP
IMP: 通过突变表型推断
26971250 GOA
enables protein serine kinase activity (using GTP as donor) IDA
IDA: 通过直接分析推断
32322062 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to glucose stimulus IDA
IDA: 通过直接分析推断
30193097 GOA
involved in cellular response to insulin stimulus IDA
IDA: 通过直接分析推断
32322062 GOA
involved in gluconeogenesis IDA
IDA: 通过直接分析推断
30193097 GOA
involved in gluconeogenesis IMP
IMP: 通过突变表型推断
26971250 GOA
involved in glucose metabolic process IMP
IMP: 通过突变表型推断
14764811 GOA
involved in oxaloacetate metabolic process IDA
IDA: 通过直接分析推断
30193097 GOA
involved in peptidyl-serine phosphorylation IDA
IDA: 通过直接分析推断
32322062 GOA
involved in positive regulation of lipid biosynthetic process IDA
IDA: 通过直接分析推断
32322062 GOA
involved in regulation of lipid biosynthetic process IDA
IDA: 通过直接分析推断
32322062 GOA
involved in response to insulin IDA
IDA: 通过直接分析推断
14764811 GOA
involved in tricarboxylic acid metabolic process IDA
IDA: 通过直接分析推断
30193097 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
32322062 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
32322062 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

PCK1 蛋白结构

PEPCK_C

PEPCK_C: Phosphoenolpyruvate carboxykinase C-terminal P-loop domain (29 - 621)

  • 0
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  • 500
  • 622 a.a.
蛋白主名 其他名称

phosphoenolpyruvate carboxykinase, cytosolic [GTP]

PEP carboxykinase

PCK1 抗体

目录号 产品名 应用 反应物种
HY-P80267 PCK1 Antibody (YA242) ICC/IF, IHC-P, WB Human

关联疾病

疾病名称 别名
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic

PCKDC

Pck1 Deficiency, Cytosolic

Pepck Deficiency, Cytosolic

Deficiency, Phosphoenolpyruvate Carboxykinase, Cytosolic

Pepck 1 Deficiency

Phosphoenolpyruvate Carboxykinase Deficiency

Phosphoenolpyruvate Carboxykinase Deficiency

Pep Carboxykinase Deficiency

Phosphoenolpyruvate Carboxykinase-1 Deficiency

Phosphoenolpyruvate Carboxylase Deficiency

Phosphopyruvate Carboxylase Deficiency

Pepck Deficiency

Hypoglycemia

Hypoglycaemia

Low Blood Sugar

Hypoglycaemia Nos

Spontaneous Hypoglycaemia

Nondiabetic Hypoglycaemia

Hypoglycaemic Disorder Nos

Hypoglycaemic Syndrome

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Diabetes Mellitus

Diabetes

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
Mus musculus PCK1 MGD MGI:97501
Canis familiaris PCK1 VGNC VGNC:44307
Macaca mulatta PCK1 VGNC VGNC:75779
Felis catus PCK1 VGNC VGNC:68726
Bos taurus PCK1 VGNC VGNC:32631
Rattus norvegicus PCK1 RGD RGD:3267