GCLC - glutamate-cysteine ligase catalytic subunit Gene

中文名称：谷氨酸-半胱氨酸连接酶催化亚基

种属: Homo sapiens

同用名: GCL; GCS; GLCL; GLCLC

基因 ID: 2729 | 基因类型: protein coding

关于 GCLC

Cytogenetic location: 6p12.1 Genomic coordinates (GRCh38): 6:53,497,341-53,545,101 (from NCBI)

This gene has 14 transcripts (splice variants), 219 orthologues and is associated with 4 phenotypes. Ubiquitous expression in liver (RPKM 39.8), urinary bladder (RPKM 19.1) and 24 other tissues.

功能概要

谷氨酸-半胱氨酸连接酶，又称γ-谷氨酰半胱氨酸合成酶，是谷胱甘肽合成的第一限速酶。该酶由两个亚基组成，一个重催化亚基和一个轻调节亚基。该基因座编码催化亚基，而调节亚基来自位于染色体 1p22-p21 上的不同基因。由于γ-谷氨酰半胱氨酸合成酶缺乏和心肌梗塞易感性，该位点的突变与溶血性贫血有关。[RefSeq 提供，2010 年 10 月]

Glutamate-cysteine Ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting Enzyme of glutathione synthesis. The Enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the catalytic subunit, while the regulatory subunit is derived from a different gene located on chromosome 1p22-p21. Mutations at this locus have been associated with hemolytic anemia due to deficiency of gamma-glutamylcysteine synthetase and susceptibility to myocardial infarction.[provided by RefSeq, Oct 2010]

GCLC 基因产物(2)

mRNA	Protein	Name
NM_001197115.2	NP_001184044.1	glutamate--cysteine ligase catalytic subunit isoform b
NM_001498.4	NP_001489.1	glutamate--cysteine ligase catalytic subunit isoform a

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 ADP binding	IDA IDA: 通过直接分析推断	24639	GOA
enables glutamate binding	IDA IDA: 通过直接分析推断	9841880	GOA
enables glutamate-cysteine ligase activity	IDA IDA: 通过直接分析推断	8104187	GOA
enables glutamate-cysteine ligase activity	IMP IMP: 通过突变表型推断	9841880	GOA
enables magnesium ion binding	IDA IDA: 通过直接分析推断	24639	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	9675072	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in blood vessel diameter maintenance	IMP IMP: 通过突变表型推断	12598062	GOA
involved in cell redox homeostasis	IDA IDA: 通过直接分析推断	10439045	GOA
involved in cysteine metabolic process	IDA IDA: 通过直接分析推断	2294991	GOA
involved in glutamate metabolic process	IDA IDA: 通过直接分析推断	2294991	GOA
involved in glutathione biosynthetic process	IDA IDA: 通过直接分析推断	8104187	GOA
involved in glutathione biosynthetic process	IMP IMP: 通过突变表型推断	12663448	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	10439045	GOA
involved in negative regulation of apoptotic process	IDA IDA: 通过直接分析推断	10439045	GOA
involved in response to heat	IDA IDA: 通过直接分析推断	8104187	GOA
involved in response to hormone	IDA IDA: 通过直接分析推断	8104187	GOA
involved in response to oxidative stress	IDA IDA: 通过直接分析推断	10395918	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of glutamate-cysteine ligase complex	IDA IDA: 通过直接分析推断	9675072	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

GCLC 蛋白结构

GCS

0
100
200
300
400
500
600
637 a.a.

蛋白主名

其他名称

glutamate--cysteine ligase catalytic subunit

GCS heavy chain

GCLC 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	GCLC	P48506	GCLM	Homo sapiens	P48507	Anti Tag CoIP	28514442
种属内	GCLC	P48506	GCLM	Homo sapiens	P48507	Anti Tag CoIP	33961781

种属间: 跨种属相互作用 种属内: 同种属相互作用

GCLC 抗体

目录号	产品名	应用	反应物种
HY-P83153	GCLC Antibody (YA2898)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency	HAGGSD
Anemia, Hemolytic, Due To Gamma-Glutamylcysteine Synthetase Deficiency	Glutamate-Cysteine Ligase Deficiency

Glutamate-Cysteine Ligase Deficiency

Gamma-Glutamylcysteine Synthetase Deficiency	Hemolytic Anemia Due To Gamma-Glutamylcysteine Synthetase Deficiency
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To

Myocardial Infarction

Heart Attack	Myocardial Infarction, Susceptibility To
Myocardial Infarction 1	Myocardial Infarction, Protection Against
Myocardial Infarction, Decreased Susceptibility To	Myocardial Infarction, Decreased
Myocardial Infarct	MCI1
Premature Myocardial Infarction	Myocardial Infarction, Susceptibility To, Type 1

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

Cystic Fibrosis

Mucoviscidosis	CF
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis	Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
Cystic Fibrosis Lung Disease, Modifier Of	Cystic Fibrosis Of Pancreas
Fibrocystic Disease Of Pancreas	Cf - [Cystic Fibrosis]
Cystic Fibrosis Nos	Fibrocystic Disease
Fibrocystic Disease Of The Pancreas	Mucoviscidosis Of Pancreas
Nonproliferative Fibrocystic Disease	Pancreatic Cystic Fibrosis

Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy

Autosomal Dominant Adult-Onset Proximal Sma	Autosomal Dominant Late-Onset Spinal Muscular Atrophy, Finkel Type
Finkel Disease	Smafk
Adult-Onset Proximal Spinal Muscular Atrophy, Autosomal Dominant	Autosomal Dominant Adult Proximal Spinal Muscular Atrophy
Finkel Late-Adult Type Sma

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Ovarian Cancer

Ovarian Carcinoma	Ovarian Neoplasm
Malignant Tumour Of Ovary	Cancer Of The Ovary
Epithelial Ovarian Cancer	Neoplasm Of Ovary
Ovarian Neoplasms	Ovarian Cancers
Malignant Neoplasm Of Ovary	Primary Malignant Neoplasm Of Ovary
Ovarian Cancer, Somatic	Malignant Ovarian Tumor
Ovary Neoplasm	Primary Ovarian Cancer
Tumor Of The Ovary	Malignant Neoplasm Of The Ovary
Malignant Tumor Of The Ovary	Ovarian Malignant Tumor
OC	Ovarian Carcinomas
Cancer, Ovarian	Cancer Of Ovary
Ovary Cancer	Ca Ovary

Co-Trimoxazole Allergy

Bactrim Allergy	Cotrimoxazol Allergy
Tmp/Smx Allergy	Trimethoprim/Sulfamethoxazole Allergy

Intravascular Fasciitis

Intravascular Pseudosarcomatous Fasciitis

Myopathy

Muscular Diseases

Myopathies

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-147517	Keap1-Nrf2-IN-9	Inhibitor	98.52%	否
HY-RS05333	GCLC Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	GCLC	VGNC	VGNC:72923
Canis familiaris	GCLC	VGNC	VGNC:41147
Mus musculus	GCLC	MGD	MGI:104990
Rattus norvegicus	GCLC	RGD	RGD:619868
Bos taurus	GCLC	VGNC	VGNC:29289
Felis catus	GCLC	VGNC	VGNC:62494

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GCLC - glutamate-cysteine ligase catalytic subunit Gene

关于 GCLC

功能概要

GCLC 基因产物(2)

GCLC 蛋白结构

GCLC 蛋白互作信息

GCLC 抗体

关联疾病

直系同源

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GCLC - glutamate-cysteine ligase catalytic subunit Gene

关于 GCLC

功能概要

GCLC 基因产物(2)

GCLC 蛋白结构

GCLC 蛋白互作信息

GCLC 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z