PGK1 - phosphoglycerate kinase 1 Gene

中文名称：磷酸甘油酸激酶 1

种属: Homo sapiens

同用名: PGKA; MIG10; HEL-S-68p

基因 ID: 5230 | 基因类型: protein coding

关于 PGK1

Cytogenetic location: Xq21.1 Genomic coordinates (GRCh38): X:78,104,248-78,129,295 (from NCBI)

This gene has 6 transcripts (splice variants), 223 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 128.3), heart (RPKM 120.1) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种糖酵解酶，可催化 1,3-二磷酸甘油酸转化为 3-磷酸甘油酸。编码的蛋白质也可以作为聚合酶 α 的辅助因子。此外，这种蛋白质由肿瘤细胞分泌，通过减少丝氨酸蛋白酶纤溶酶中的二硫键参与血管生成，从而导致肿瘤血管抑制剂血管抑制素的释放。编码的蛋白质已被确定为基于其执行机械不同功能的能力的兼职蛋白质。这种酶的缺乏与广泛的临床表型溶血性贫血和神经功能障碍有关。该基因的假基因已在 19 号、21 号染色体和 X 染色体上定义。[RefSeq 提供，2014 年 1 月]

The protein encoded by this gene is a glycolytic Enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. The encoded protein may also act as a cofactor for polymerase alpha. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine Protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Deficiency of the Enzyme is associated with a wide range of clinical phenotypes hemolytic anemia and neurological impairment. Pseudogenes of this gene have been defined on chromosomes 19, 21 and the X chromosome. [provided by RefSeq, Jan 2014]

PGK1 基因产物(1)

mRNA	Protein	Name
NM_000291.4	NP_000282.1	phosphoglycerate kinase 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 phosphoglycerate kinase activity	EXP EXP: 通过实验结果推断	1278465	GOA
enables phosphoglycerate kinase activity	IMP IMP: 通过突变表型推断	7391028	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	20392205	GOA
enables protein-disulfide reductase (NAD(P)H) activity	IMP IMP: 通过突变表型推断	11130727	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cellular response to hypoxia	IDA IDA: 通过直接分析推断	11130727	GOA
involved in epithelial cell differentiation	IEP IEP: 通过表达模式推断	21492153	GOA
involved in glycolytic process	IMP IMP: 通过突变表型推断	7391028	GOA
involved in negative regulation of angiogenesis	IMP IMP: 通过突变表型推断	11130727	GOA
involved in plasminogen activation	IMP IMP: 通过突变表型推断	11130727	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in extracellular space	IDA IDA: 通过直接分析推断	11130727	GOA
located in membrane raft	IDA IDA: 通过直接分析推断	25204797	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

PGK1 蛋白结构

PGK

0
100
200
300
417 a.a.

蛋白主名

其他名称

phosphoglycerate kinase 1

PRP 2

重组 PGK1 蛋白

目录号	产品名	蛋白编号	纯度
HY-P71049	PGK1 Protein, Human (HEK293, His)	P00558-1 (S2-I417)	≥95%

关联疾病

疾病名称

别名

Phosphoglycerate Kinase 1 Deficiency

Pgk1 Deficiency	Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase Deficiency	Pgk Deficiency
Glycogenosis Due To Phosphoglycerate Kinase 1 Deficiency	Gsd Due To Phosphoglycerate Kinase 1 Deficiency
Deficiency Of Phosphoglycerate Kinase	PGK1D
Deficiency, Phosphoglycerate Kinase 1

Male Infertility Due To Obstructive Azoospermia

Male Infertility Due To Impaired Sperm Transport

Hemolytic Anemia

Anemia, Hemolytic	Anemia Hemolytic
Anaemia Due To Other Disorders Of Glutathione Metabolism	Chronic Non Spherocytic Anaemia
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia	Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia	Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
Favism Anaemia	Haemolytic Anaemia Due Tog6pd Deficiency
Favism	Pentose Phosphate Pathway Disorder Anaemia
Anaemia Due To Pentose Phosphate Pathway Defect

Menkes Disease

Copper Transport Disease	Menkes Syndrome
MNK	Kinky Hair Disease
Steely Hair Disease	Menkes Kinky-Hair Syndrome
Mk	Steely Hair Syndrome
Menkea Syndrome	Md
Menkes Kinky Hair Syndrome	Hypocupremia, Congenital
Kinky Hair Syndrome	X-Linked Copper Deficiency
Menkes Kinky Hair Disease

Myoglobinuria

Adenosquamous Carcinoma

Adenosquamous Cell Carcinoma	Mixed Adenocarcinoma And Squamous Carcinoma
Carcinoma Adenosquamous	Carcinoma, Adenosquamous

Myopathy

Muscular Diseases

Myopathies

Plantar Fascial Fibromatosis

Dupuytren'S Contracture Of Foot	Ledderhose'S Disease
Fibromatosis, Plantar	Ledderhose Disease

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-134205A	CBR-470-1	Activator	98.03%	否
HY-15154	NG 52	Inhibitor	99.97%	否
HY-W195984	Z57346765	Inhibitor	99.55%	否
HY-153917	CRT0063465		99.59%	否
HY-RS10384	PGK1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	PGK1	VGNC	VGNC:49941
Bos taurus	PGK1	VGNC	VGNC:32789
Rattus norvegicus	PGK1	RGD	RGD:619878
Mus musculus	PGK1	MGD	MGI:97555
Others	PGK1	NCBI

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