GCLM - glutamate-cysteine ligase modifier subunit Gene

中文名称：谷氨酸-半胱氨酸连接酶修饰亚基

种属: Homo sapiens

同用名: GLCLR

基因 ID: 2730 | 基因类型: protein coding

关于 GCLM

Cytogenetic location: 1p22.1 Genomic coordinates (GRCh38): 1:93,885,199-93,909,430 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 1 phenotype. Ubiquitous expression in liver (RPKM 13.0), thyroid (RPKM 9.9) 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。 γ 谷氨酰半胱氨酸合成酶缺乏与某些形式的溶血性贫血有关。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供，2015 年 4 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. Gamma glutamylcysteine synthetase deficiency has been implicated in some forms of hemolytic anemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]

GCLM 基因产物(2)

mRNA	Protein	Name
NM_001308253.2	NP_001295182.1	glutamate--cysteine ligase regulatory subunit isoform 2
NM_002061.4	NP_002052.1	glutamate--cysteine ligase regulatory subunit 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
contributes to glutamate-cysteine ligase activity	IMP IMP: 通过突变表型推断	16183645	GOA
enables glutamate-cysteine ligase catalytic subunit binding	IPI IPI: 通过物理相互作用推断	9675072	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	12975258	GOA
involved in glutamate metabolic process	IDA IDA: 通过直接分析推断	9841880	GOA
involved in glutathione biosynthetic process	IDA IDA: 通过直接分析推断	9675072	GOA
involved in glutathione biosynthetic process	IMP IMP: 通过突变表型推断	12081989	GOA
involved in response to oxidative stress	IDA IDA: 通过直接分析推断	10395918	GOA
involved in response to xenobiotic stimulus	IDA IDA: 通过直接分析推断	9895302	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

GCLM 蛋白结构

Aldo_ket_red

0
100
200
274 a.a.

蛋白主名

其他名称

glutamate--cysteine ligase regulatory subunit

GCS light chain

GCLM 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	GCLM	P48507	GCLC	Homo sapiens	P48506	Anti Tag CoIP	33961781
种属内	GCLM	P48507	GCLC	Homo sapiens	P48506	Chromatography	9675072
种属内	GCLM	P48507	OSGIN1	Homo sapiens	Q9UJX0	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

GCLM 抗体

目录号	产品名	应用	反应物种
HY-P81662	GCLM Antibody (YA1407)	WB, IHC-P, ICC/IF, IP, FC	Human, Mouse, Rat

关联疾病

疾病名称

别名

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

Parkinson Disease 4, Autosomal Dominant

Autosomal Dominant Parkinson Disease 4	PARK4
Parkinson Disease 4, Autosomal Dominant Lewy Body	Parkinson Disease 4
Parkinson'S Disease 4	Autosomal Dominant Lewy Body Parkinson Disease 4
Autosomal Dominant Parkinson'S Disease 4	Parkinson Disease 4 Autosomal Dominant Lewy Body
Parkinson Disease Autosomal Dominant 4	Parkinson Disease Familial Type 4
Parkinson Disease, Type 4

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-121523	MIND4-17	Activator	99.93%	否
HY-147517	Keap1-Nrf2-IN-9	Inhibitor	98.52%	否
HY-RS05334	GCLM 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	GCLM	VGNC	VGNC:41148
Rattus norvegicus	GCLM	RGD	RGD:619871
Bos taurus	GCLM	VGNC	VGNC:29290
Felis catus	GCLM	VGNC	VGNC:80218
Macaca mulatta	GCLM	VGNC	VGNC:72924
Mus musculus	GCLM	MGD	MGI:104995

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