GCSH - glycine cleavage system protein H Gene

中文名称：甘氨酸裂解系统蛋白 H

种属: Homo sapiens

同用名: GCE; NKH

基因 ID: 2653 | 基因类型: protein coding

关于 GCSH

Cytogenetic location: 16q23.2 Genomic coordinates (GRCh38): 16:81,081,945-81,096,395 (from NCBI)

This gene has 10 transcripts (splice variants), 227 orthologues and is associated with 5 phenotypes. Broad expression in thyroid (RPKM 44.9), kidney (RPKM 31.4) and 23 other tissues.

功能概要

甘氨酸的降解是由甘氨酸裂解系统引起的，该系统由四种线粒体蛋白质成分组成：P 蛋白 (一种磷酸吡哆醛依赖性甘氨酸脱羧酶) 、H 蛋白 (一种含硫辛酸的蛋白) 、T 蛋白 (一种四氢叶酸-需要酶) 和 L 蛋白 (硫辛酰胺脱氢酶) 。该基因编码的蛋白质是 H 蛋白，它将甘氨酸的甲胺基团从 P 蛋白转移到 T 蛋白。该基因的缺陷是非酮症高甘氨酸血症 (NKH) 的一个原因。已发现该基因的两种转录变体，一种编码蛋白质，另一种可能不编码蛋白质。此外，该基因的几个转录和非转录假基因存在于整个基因组中。[RefSeq 提供，2010 年 1 月]

Degradation of glycine is brought about by the glycine cleavage system, which is composed of four mitochondrial protein components: P protein (a pyridoxal phosphate-dependent glycine decarboxylase), H protein (a lipoic acid-containing protein), T protein (a tetrahydrofolate-requiring Enzyme), and L protein (a lipoamide dehydrogenase). The protein encoded by this gene is the H protein, which transfers the methylamine group of glycine from the P protein to the T protein. Defects in this gene are a cause of nonketotic hyperglycinemia (NKH). Two transcript variants, one protein-coding and the Other probably not protein-coding,have been found for this gene. Also, several transcribed and non-transcribed pseudogenes of this gene exist throughout the genome.[provided by RefSeq, Jan 2010]

GCSH 基因产物(1)

mRNA	Protein	Name
NM_004483.5	NP_004474.2	glycine cleavage system H protein, mitochondrial precursor

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 protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in protein lipoylation	IDA IDA: 通过直接分析推断	1671321	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

GCSH 蛋白结构

GCV_H

0
100
173 a.a.

蛋白主名

其他名称

glycine cleavage system H protein, mitochondrial

glycine cleavage system protein H (aminomethyl carrier)

GCSH 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	GCSH	P23434	MAGEA6	Homo sapiens	P43360	Y2H Prey Pooling	32296183
种属内	GCSH	P23434	MAGEA6	Homo sapiens	P43360	Validated Y2H	32296183
种属内	GCSH	P23434	MAGEA6	Homo sapiens	P43360	Y2H Array	32296183
种属内	GCSH	P23434	MIS18A	Homo sapiens	Q9NYP9	Validated Y2H	32296183
种属内	GCSH	P23434	MIS18A	Homo sapiens	Q9NYP9	Y2H Prey Pooling	32296183
种属内	GCSH	P23434	MIS18A	Homo sapiens	Q9NYP9	Y2H Array	32296183
种属内	GCSH	P23434	RHBDD2	Homo sapiens	Q6NTF9-3	Y2H Prey Pooling	32296183
种属内	GCSH	P23434	RHBDD2	Homo sapiens	Q6NTF9-3	Y2H Array	32296183
种属内	GCSH	P23434	RHBDD2	Homo sapiens	Q6NTF9-3	Validated Y2H	32296183
种属内	GCSH	P23434	NMI	Homo sapiens	Q13287	Y2H Prey Pooling	32296183
种属内	GCSH	P23434	NMI	Homo sapiens	Q13287	Validated Y2H	32296183
种属内	GCSH	P23434	NMI	Homo sapiens	Q13287	Y2H Array	32296183
种属内	GCSH	P23434	MED11	Homo sapiens	Q9P086	Validated Y2H	32296183
种属内	GCSH	P23434	MED11	Homo sapiens	Q9P086	Y2H Array	32296183
种属内	GCSH	P23434	MED11	Homo sapiens	Q9P086	Y2H Prey Pooling	32296183
种属内	GCSH	P23434	CIDEB	Homo sapiens	Q9UHD4	Y2H Prey Pooling	32296183
种属内	GCSH	P23434	CIDEB	Homo sapiens	Q9UHD4	Validated Y2H	32296183
种属内	GCSH	P23434	CIDEB	Homo sapiens	Q9UHD4	Y2H Array	32296183
种属内	GCSH	P23434	MAGEA11	Homo sapiens	P43364	Y2H Array	32296183
种属内	GCSH	P23434	MAGEA11	Homo sapiens	P43364	Y2H Prey Pooling	32296183
种属内	GCSH	P23434	MAGEA11	Homo sapiens	P43364	Validated Y2H	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GCSH 蛋白

目录号	产品名	蛋白编号	纯度
HY-P76358	GCSH Protein, Human (His)	P23434 (S49-E173)	≥95%

关联疾病

疾病名称

别名

Glycine Encephalopathy

Non-Ketotic Hyperglycinemia	Nonketotic Hyperglycinemia
NKH	GCE
Hyperglycinemia, Nonketotic	Hyperglycinemia Nonketotic
Infantile Glycine Encephalopathy	Encephalopathy, Glycine
Glycine Synthase Deficiency	Nka
Neonatal Glycine Encephalopathy	Classic Glycine Encephalopathy
Neonatal Nkh	Neonatal Non-Ketotic Hyperglycinemia
Infantile Nkh	Infantile Non-Ketotic Hyperglycinemia
Non-Ketotic Hyperglycinaemia	Glycine Cleavage Deficiency
Nonketotic Hyperglycinaemia

Atypical Glycine Encephalopathy

Atypical Nka

Atypical Non-Ketotic Hyperglycinemia

Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant	Autosomal Dominant Cutis Laxa
ADCL1	Adcl
Autosomal Dominant Cutis Laxa 1	Cutis Laxa, Autosomal Dominant, 1
Cutis Laxa, Autosomal Dominant, Type 1

Combined Oxidative Phosphorylation Deficiency 23

COXPD23	Combined Oxidative Phosphorylation Defect Type 23
Oxidative Phosphorylation Deficiency, Combined, Type 23

Molybdenum Cofactor Deficiency

Combined Molybdoflavoprotein Enzyme Deficiency	Mocod
Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase, And Aldehyde Oxidase	Combined Deficiency Of Sulfite Oxidase, Xanthine Dehydrogenase And Aldehyde Oxidase
Combined Xanthine Oxidase And Sulfite Oxidase And Aldehyde Oxidase Deficiency	Deficiency Of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor

Propionic Acidemia

Ketotic Hyperglycinemia	Propionyl-Coa Carboxylase Deficiency
Pcc Deficiency	Propionicacidemia
Glycinemia, Ketotic	Hyperglycinemia With Ketoacidosis And Leukopenia
Ketotic Glycinemia	Propionic Aciduria
Prop	Acidemia, Propionic
PA-1	Ketotic Ii Glycinemia
Hyperglycinemia, Ketotic	Propionic Acidemia Type I
Propionic Acidemia Type Ii	PA-2
Propionicaciduria

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-RS05344	GCSH 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	GCSH	VGNC	VGNC:53389
Mus musculus	GCSH	MGD	MGI:1915383
Rattus norvegicus	GCSH	RGD	RGD:619946
Macaca mulatta	GCSH	VGNC	VGNC:104728
Others	GCSH	NCBI

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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）

GCSH - glycine cleavage system protein H Gene

关于 GCSH

功能概要

GCSH 基因产物(1)

GCSH 蛋白结构

GCSH 蛋白互作信息

重组 GCSH 蛋白

关联疾病

直系同源

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GCSH - glycine cleavage system protein H Gene

关于 GCSH

功能概要

GCSH 基因产物(1)

GCSH 蛋白结构

GCSH 蛋白互作信息

重组 GCSH 蛋白

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