CTH - cystathionine gamma-lyase Gene

中文名称：胱硫醚γ裂解酶

种属: Homo sapiens

同用名: CGL; CSE

基因 ID: 1491 | 基因类型: protein coding

关于 CTH

Cytogenetic location: 1p31.1 Genomic coordinates (GRCh38): 1:70,411,268-70,439,851 (from NCBI)

This gene has 5 transcripts (splice variants), 220 orthologues and is associated with 2 phenotypes. Biased expression in liver (RPKM 17.3), adrenal (RPKM 4.0) and 12 other tissues.

功能概要

该基因编码转硫途径中的一种细胞质酶，该途径将甲硫氨酸衍生的胱硫醚转化为半胱氨酸。肝脏中谷胱甘肽的合成取决于半胱氨酸的可用性。该基因的突变会导致胱硫醚尿症。该基因的可变剪接导致编码不同亚型的三种转录变体。[RefSeq 提供，2010 年 6 月]

This gene encodes a cytoplasmic Enzyme in the trans-sulfuration pathway that converts cystathione derived from methionine into cysteine. Glutathione synthesis in the liver is dependent upon the availability of cysteine. Mutations in this gene cause cystathioninuria. Alternative splicing of this gene results in three transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]

CTH 基因产物(3)

mRNA	Protein	Name
NM_001190463.2	NP_001177392.1	cystathionine gamma-lyase isoform 3
NM_001902.6	NP_001893.2	cystathionine gamma-lyase isoform 1
NM_153742.5	NP_714964.2	cystathionine gamma-lyase isoform 2

基因本体论

分子功能
生物过程

分子功能 GO 注释	逻辑证据	参考文献	来源
enables L-cystine L-cysteine-lyase (deaminating)	IMP IMP: 通过突变表型推断	22169477	GOA
enables cystathionine gamma-lyase activity	IDA IDA: 通过直接分析推断	10212249	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	22169477	GOA
enables pyridoxal phosphate binding	IDA IDA: 通过直接分析推断	10212249	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in cysteine biosynthetic process	IDA IDA: 通过直接分析推断	10212249	GOA
involved in cysteine biosynthetic process via cystathionine	IDA IDA: 通过直接分析推断	19428278	GOA
involved in hydrogen sulfide biosynthetic process	IDA IDA: 通过直接分析推断	19019829	GOA
involved in positive regulation of aortic smooth muscle cell differentiation	IMP IMP: 通过突变表型推断	21659522	GOA
involved in protein homotetramerization	IPI IPI: 通过物理相互作用推断	19019829	GOA
involved in protein sulfhydration	IMP IMP: 通过突变表型推断	22169477	GOA
involved in protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	IDA IDA: 通过直接分析推断	19019829	GOA
involved in transsulfuration	IDA IDA: 通过直接分析推断	19428278	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

CTH 蛋白结构

Cys_Met_Meta_PP

0
100
200
300
405 a.a.

蛋白主名

其他名称

cystathionine gamma-lyase

cystathionase (cystathionine gamma-lyase)

CTH 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	CTH	P32929	RECK	Homo sapiens	Q6P9E2	Validated Y2H	25416956
种属内	CTH	P32929	RECK	Homo sapiens	Q6P9E2	Validated Y2H	32296183
种属内	CTH	P32929	GUCD1	Homo sapiens	Q96NT3-2	Validated Y2H	32296183
种属内	CTH	P32929	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	25416956
种属内	CTH	P32929	NTAQ1	Homo sapiens	Q96HA8	Y2H Prey Pooling	25416956
种属内	CTH	P32929	CTH	Homo sapiens	P32929	Y2H Pooling	16189514
种属内	CTH	P32929	CTH	Homo sapiens	P32929	MAPPIT	32296183
种属内	CTH	P32929	CTH	Homo sapiens	P32929	Y2H Prey Pooling	32296183
种属内	CTH	P32929	SDCBP2	Homo sapiens	Q9H190	Y2H Array	21988832
种属内	CTH	P32929	CTH	Homo sapiens	P32929	Validated Y2H	32296183
种属内	CTH	P32929	CTH	Homo sapiens	P32929	Y2H Array	25416956
种属内	CTH	P32929	GAPDHS	Homo sapiens	O14556	Anti Tag CoIP	33961781
种属内	CTH	P32929	CTH	Homo sapiens	P32929	Complementation	32296183
种属内	CTH	P32929	YWHAZ	Homo sapiens	P63104	Pull Down	15161933
种属内	CTH	P32929	CTH	Homo sapiens	P32929	Y2H Array	32296183
种属内	CTH	P32929	GUCD1	Homo sapiens	Q96NT3	Validated Y2H	25416956
种属内	CTH	P32929	GUCD1	Homo sapiens	Q96NT3	Y2H Array	25416956

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 CTH 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70025	Cystathionine gamma-lyase/CTH Protein, Human	P32929 (M1-S405)	≥95%

关联疾病

疾病名称

别名

Cystathioninuria

Cystathionase Deficiency	Gamma-Cystathionase Deficiency
Cystathione Gamma-Lyase Deficiency Syndrome	Cystathionine Gamma-Lyase Deficiency Syndrome
CSTNU

Hyperhomocysteinemia

Methionine Adenosyltransferase I/Iii Deficiency

Mat I/Iii Deficiency	Mat Deficiency
Methionine Adenosyltransferase Deficiency, Autosomal Recessive	Hypermethioninemia, Persistent, Autosomal Dominant, Due To Methionine Adenosyltransferase I/Iii Deficiency
Methionine Adenosyltransferase Deficiency	Hypermethioninemia, Isolated Persistent
Brain Demyelination Due To Methionine Adenosyltransferase Deficiency	MATD
Isolated Persistent Hypermethioninemia	Hepatic Methionine Adenosyltransferase Deficiency
Deficiency Of Acetyl-Coa Acetyltransferase

Encephalopathy, Ethylmalonic

Ethylmalonic Encephalopathy	EE
Epema Syndrome	Encephalopathy, Petechiae, And Ethylmalonic Aciduria
Ethe1 Deficiency	Eme
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency	Deficiency Of Methionine Adenosyltransferase
Glycine N-Methyltransferase Deficiency	Met
S-Adenosylhomocysteine Hydrolase Deficiency	Gnmt Deficiency
Mat Deficiency	Methionine Adenosyltransferase Deficiency
Methioninemia	Deficiency Of Acetyl-Coa Acetyltransferase

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Hypertension, Essential

Essential Hypertension	Hypertension
High Blood Pressure	Hypertension, Essential, Susceptibility To
Hypertensive Disease	Primary Hypertension
EHT	Hypertension, Salt-Sensitive Essential, Susceptibility To
Hyperpiesia	Idiopathic Hypertension
Hypertensive Disorder	Hypertension, Essential, Susceptibility To, 3
Hypertension, Essential 3	Hypertension, Essential, Salt-Sensitive
Hypertension, Essential, Susceptibility To, 6	Hypertension, Essential 6
Hypertension, Salt-Sensitive Essential	Hypertension, Susceptibility To
Hypertension, Essential, Susceptibility To, 4	Hypertension, Essential 4
Hypertension, Essential, Susceptibility To, 2	Hypertension, Essential 2
Hypertension, Essential, Susceptibility To, 1	Hypertension, Essential 1
Hypertension, Essential, Susceptibility To, 5	Hypertension, Essential 5
Htn	Vascular Hypertensive Disorder
Systemic Primary Arterial Hypertension	Hbp - [High Blood Pressure]
Systemic Arterial Hypertensive Disorder	Elevated Blood Pressure
Arterial Hypertension Nos	Hypertension Nos
Benign Hypertension	Systemic Arterial Hypertension
Systemic Hypertension	Artery Htn
Benign Htn	Vascular Htn
Vascular Hypertension	Cholesterol Hypertension
Cholesterol Htn	Idiopathic Htn
Malignant Hypertension	Malignant Htn
Raised Blood Pressure	Cardiovascular Hypertension
Primary Htn - [Hypertension]	High Arterial Tension
High Blood Pressure Disorder	Ht - [Hypertension]
Htn - [Hypertension]	Hypertensive Vascular Disease
Hypertensive Vascular Degeneration

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-W013673	2,3-Diaminopropionic acid hydrochloride		≥98.0%	否
HY-RS03296	CTH Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	CTH	VGNC	VGNC:61250
Mus musculus	CTH	MGD	MGI:1339968
Bos taurus	CTH	VGNC	VGNC:27795
Rattus norvegicus	CTH	RGD	RGD:2443
Canis familiaris	CTH	VGNC	VGNC:39697
Macaca mulatta	CTH	VGNC	VGNC:99872
Others	CTH	NCBI

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