NGLY1 - N-glycanase 1 Gene

中文名称：N-聚糖酶 1

种属: Homo sapiens

同用名: CDDG; PNG1; CDG1V; PNG-1; PNGase

基因 ID: 55768 | 基因类型: protein coding

关于 NGLY1

Cytogenetic location: 3p24.2 Genomic coordinates (GRCh38): 3:25,718,944-25,790,039 (from NCBI)

This gene has 21 transcripts (splice variants), 215 orthologues and is associated with 3 phenotypes. Broad expression in testis (RPKM 28.0), lymph node (RPKM 11.3) and 25 other tissues.

功能概要

该基因编码一种酶，该酶催化 N (4) - (乙酰基-β-D-氨基葡萄糖) 天冬酰胺残基水解为 N-乙酰-β-D-氨基葡萄糖胺和含有天冬氨酸残基的肽。编码的酶可能在蛋白酶体介导的错误折叠糖蛋白降解中发挥作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 2 月]

This gene encodes an Enzyme that catalyzes hydrolysis of an N(4)-(acetyl-beta-D-glucosaminyl) asparagine residue to N-acetyl-beta-D-glucosaminylamine and a peptide containing an aspartate residue. The encoded Enzyme may play a role in the proteasome-mediated degradation of misfolded glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]

NGLY1 基因产物(4)

mRNA	Protein	Name
NM_001145293.2	NP_001138765.1	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 2
NM_001145294.2	NP_001138766.1	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 3
NM_001145295.2	NP_001138767.1	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase isoform 4
NM_018297.4	NP_060767.2	peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase 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
enables peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity	IGI IGI: 通过遗传相互作用推断	28826503	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15358861	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in glycoprotein catabolic process	IDA IDA: 通过直接分析推断	15358861	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	15358861	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

NGLY1 蛋白结构

PUB

Transglut_core

PAW

0
200
400
600
654 a.a.

蛋白主名

其他名称

peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase

hPNGase

NGLY1 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
Intra	NGLY1	Q96IV0	BICRAL	Homo sapiens	Q6AI39	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	BICRAL	Homo sapiens	Q6AI39	Y2H Array	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0-2	Validated Y2H	25416956
Intra	NGLY1	Q96IV0	TCF12	Homo sapiens	Q99081-3	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	TCF12	Homo sapiens	Q99081-3	Y2H Array	32296183
Intra	NGLY1	Q96IV0	TCF12	Homo sapiens	Q99081-3	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	GUCD1	Homo sapiens	Q96NT3-2	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Array	32296183
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	TRAFD1	Homo sapiens	O14545	Y2H Array	25416956
Intra	NGLY1	Q96IV0	UBXN2B	Homo sapiens	Q14CS0	Y2H Array	31515488
Intra	NGLY1	Q96IV0	UBXN2B	Homo sapiens	Q14CS0	Validated Y2H	25416956
Intra	NGLY1	Q96IV0	UBXN2B	Homo sapiens	Q14CS0	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Validated Y2H	25416956
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	TRIM54	Homo sapiens	Q9BYV2	Y2H Array	32296183
Intra	NGLY1	Q96IV0	VMAC	Homo sapiens	Q2NL98	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	VMAC	Homo sapiens	Q2NL98	Y2H Array	32296183
Intra	NGLY1	Q96IV0	PAX5	Homo sapiens	Q02548	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	PAX5	Homo sapiens	Q02548	Y2H Array	32296183
Intra	NGLY1	Q96IV0	NPAS2	Homo sapiens	Q99743	Y2H Array	32296183
Intra	NGLY1	Q96IV0	NPAS2	Homo sapiens	Q99743	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	NPAS2	Homo sapiens	Q99743	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Validated Y2H	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Array	32296183
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	UBQLN1	Homo sapiens	Q9UMX0	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Array	32296183
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Array	31515488
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Prey Pooling	25416956
Intra	NGLY1	Q96IV0	RAD23A	Homo sapiens	P54725	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	PAX6	Homo sapiens	P26367	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	PAX6	Homo sapiens	P26367	Y2H Array	32296183
Intra	NGLY1	Q96IV0	GUCD1	Homo sapiens	Q96NT3	Y2H Array	25416956
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Pull Down	22119785
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Prey Pooling	32296183
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Array	25416956
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Array	32296183
Intra	NGLY1	Q96IV0	RAD23B	Homo sapiens	P54727	Y2H Array	31515488

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Congenital Disorder Of Deglycosylation 1

Congenital Disorder Of Deglycosylation	CDDG1
Cddg	Congenital Disorder Of Glycosylation, Type Iv, Formerly
Cdg1v, Formerly	Cdg1v
Cdgiv	Congenital Disorder Of Glycosylation 1v
Congenital Disorder Of Glycosylation Type Iv	Deglycosylation, Congenital Disorder Of

Ngly1-Deficiency

Deficiency Of N-Glycanase 1	Ngly1-Cddg
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Ngly1 Deficiency
Congenital Disorder Of Deglycosylation	Congenital Disorder Of Glycosylation Type Iv
Congenital Disorder Of Deglycosylation	Cddg
Congenital Disorder Of Glycosylation Type Iv	Cdg1v

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Hypotonia

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Autoinflammation, Panniculitis, And Dermatosis Syndrome

Otulipenia	Otulin-Related Autoinflammatory Syndrome
AIPDS	Oras
Infantile-Onset Periodic Fever-Panniculitis-Dermatosis Syndrome	Autoinflammation, Panniculitis And Dermatosis Syndrome
Otulin Deficiency

Aspartylglucosaminuria

Aspartylglycosaminuria	Glycosylasparaginase Deficiency
Aspartylglucosaminidase Deficiency	Aga Deficiency
AGU	Aspartylglucosamidase Deficiency
Glycoasparaginase	Aspartylglucosamidase Deficiency
Hyperammonemia, Type Iii

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-129225	WRR139		99.71%	否
HY-N9446	H-Asn(glcnac-beta-D)-OH		98.65%	否
HY-RS09279	NGLY1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否
HY-P2064	Lariatin A	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	NGLY1	RGD	RGD:1308518
Felis catus	NGLY1	VGNC	VGNC:63795
Bos taurus	NGLY1	VGNC	VGNC:32063
Macaca mulatta	NGLY1	VGNC	VGNC:75200
Mus musculus	NGLY1	MGD	MGI:1913276
Canis familiaris	NGLY1	VGNC	VGNC:43796

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

NGLY1 - N-glycanase 1 Gene

关于 NGLY1

功能概要

NGLY1 基因产物(4)

NGLY1 蛋白结构

NGLY1 蛋白互作信息

关联疾病

直系同源

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NGLY1 - N-glycanase 1 Gene

关于 NGLY1

功能概要

NGLY1 基因产物(4)

NGLY1 蛋白结构

NGLY1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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C

F

G

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