GNPTAB - N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Gene

中文名称：N-乙酰葡糖胺-1-磷酸转移酶亚基α和β

种属: Homo sapiens

同用名: ICD; GNPTA

基因 ID: 79158 | 基因类型: protein coding

关于 GNPTAB

Cytogenetic location: 12q23.2 Genomic coordinates (GRCh38): 12:101,745,499-101,830,959 (from NCBI)

This gene has 11 transcripts (splice variants), 219 orthologues and is associated with 5 phenotypes. Ubiquitous expression in colon (RPKM 16.4), lung (RPKM 13.5) and 25 other tissues.

功能概要

该基因编码膜结合酶 N-乙酰葡糖胺-1-磷酸转移酶的三种亚基类型中的两种，这是一种由两个 α、两个 β 和两个 γ 亚基组成的异六聚体复合物。编码的蛋白质在 Lys928-Asp929 键处被蛋白水解切割，产生成熟的 alpha 和 beta 多肽，而 gamma 亚基是不同基因的产物 (GeneID 84572) 。在高尔基体中，异六聚体复合物催化在新合成的溶酶体酶的某些寡糖上合成甘露糖 6-磷酸识别标记的第一步。这些识别标记对于溶酶体酶的适当运输至关重要。该基因的突变与粘脂贮积症 II 和粘脂贮积症 IIIA 有关。[RefSeq 提供，2010 年 5 月]

This gene encodes two of three subunit types of the membrane-bound Enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal Enzymes. These recognition markers are essential for appropriate trafficking of lysosomal Enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.[provided by RefSeq, May 2010]

GNPTAB 基因产物(1)

mRNA	Protein	Name
NM_024312.5	NP_077288.2	N-acetylglucosamine-1-phosphotransferase subunits alpha/beta precursor

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 UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IDA IDA: 通过直接分析推断	19955174	GOA
enables UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IMP IMP: 通过突变表型推断	25505245	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in N-glycan processing to lysosome	IMP IMP: 通过突变表型推断	19938078	GOA
involved in carbohydrate phosphorylation	IDA IDA: 通过直接分析推断	19955174	GOA
involved in lysosome organization	IMP IMP: 通过突变表型推断	21719679	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	21719679	GOA
located in Golgi membrane	IDA IDA: 通过直接分析推断	23733939	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

GNPTAB 蛋白结构

Stealth_CR2

Notch

DMAP_binding

0
200
400
600
800
1000
1256 a.a.

蛋白主名

其他名称

N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

GlcNAc phosphotransferase

GNPTAB 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	GNPTAB	Q3T906	ZNF250	Homo sapiens	P15622-3	Validated Y2H	25416956
种属内	GNPTAB	Q3T906	PSMA1	Homo sapiens	P25786	Y2H Prey Pooling	25416956
种属内	GNPTAB	Q3T906	GNPTG	Homo sapiens	Q9UJJ9	Anti Tag CoIP	26385638
种属内	GNPTAB	Q3T906	FAM90A1	Homo sapiens	Q86YD7	Y2H Prey Pooling	25416956
种属内	GNPTAB	Q3T906	FAM90A1	Homo sapiens	Q86YD7	Validated Y2H	25416956
种属内	GNPTAB	Q3T906	FAM90A1	Homo sapiens	Q86YD7	Y2H Array	25416956
种属内	GNPTAB	Q3T906	STAMBPL1	Homo sapiens	Q96FJ0	Y2H Prey Pooling	25416956
种属内	GNPTAB	Q3T906	STAMBPL1	Homo sapiens	Q96FJ0	Validated Y2H	25416956
种属内	GNPTAB	Q3T906	AEN	Homo sapiens	Q8WTP8	Y2H Prey Pooling	25416956
种属内	GNPTAB	Q3T906	AEN	Homo sapiens	Q8WTP8	Y2H Array	25416956

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

Mucolipidosis Ii Alpha/Beta

I-Cell Disease	Mucolipidosis Type Ii
Mucolipidosis Ii	Icd
Inclusion Cell Disease	Inclusion-Cell Disease
I Cell Disease	Mucolipidosis 2
MLII	Ml Ii
Ml Ii Alpha/Beta	Gnpta
Leroy Disease	Ml 2
Ml Disorder Type 2	N-Acetylglucosamine 1phosphotransferase Deficiency
Mucolipidosis Type Ii Alpha/Beta	N-Acetylglucosamine 1-Phosphotransferase Deficiency
Deficiency Of N-Acetylglucosamine-1-Phosphotransferase	Mucolipidosis, Type Ii, Alpha/Beta
Ml2	Type Ii Mucolipidosis

Mucolipidosis Iii Alpha/Beta

Pseudo-Hurler Polydystrophy	Mucolipidosis Iii
Ml Iii Alpha/Beta	Mucolipidosis Iiia
Ml Iiia	Ml Iii
Ml 3 A	Ml3
Mucolipidosis Type 3a	Mucolipidosis Iii, Variant
Mucolipidosis Type Iii Alpha/Beta	Ml 3 Alpha/Beta
Mucolipidosis Type 3 Alpha/Beta	Mucolipidosis Type 3
Mucolipidosis Type Iii Complementation Group A	MLIIIA
Cariant Pseudo-Hurler Polydystrophy	Mucolipidosis, Type Iii Alpha/Beta
Mucolipidosis, Type Iii, Alpha/Beta

Mucolipidosis

Mucolipidoses

Gnptab-Related Disorders

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

Scheuermann Disease

Scheuermann'S Disease	Spinal Osteochondrosis
Juvenile Osteochondrosis Of Spine	Familial Scheuermann Disease
Familial Scheuermann Juvenile Kyphosis	Familial Spinal Osteochondrosis
Scheuermann Juvenile Kyphosis	Juvenile Osteochondritis Of The Spine
Juvenile Osteochondrosis Of Scheurermann	Scheuermann'S Kyphosis
Sherman'S Disease	Juvenile Kyphosis
Scheuermann Kyphosis	[X]Spinal Osteochondrosis, Unspecified

Legg-Calve-Perthes Disease

Perthes Disease	LCPD
Coxa Plana	Legg-Perthes Disease
Juvenile Osteochondrosis Of Hip And Pelvis	Pseudocoxalgia
Legg-Calvé-Perthes Disease	Lcp
Calve - Perthes' Disease	Juvenile Osteochond-Hip/Pelvis
Juvenile Osteochondrosis Of Hip And/Or Pelvis	Legg-Calve-Perthes Symptom
Osteochondrosis Of Legg-Calve-Perthes	Perthe'S Disease
Legg-Calve-Perthes Syndrome	Osteochondritis Deformans
Calve-Perthes Disease	Aseptic Necrosis Of The Capital Femoral Epiphysis
Osteochondrosis Of The Capital Femoral Epiphysis	Legg-Calvé-Perthes Syndrome
Avascular Necrosis Of The Capital Femoral Epiphysis

Stuttering

Stammering	Familial Persistent Stuttering
Stuttering, Familial Persistent 1

Chronic Rheumatic Pericarditis

Chronic Rheumatic Mediastinopericarditis	Chronic Rheumatic Myopericarditis
Inactive Or Quiescent Rheumatic Fever In Pericarditis	Pericarditis With Inactive Or Quiescent Rheumatic Fever

Endometriosis Of Pelvic Peritoneum

Disseminated Chorioretinitis

Fungal Gastritis

Mucolipidosis Iii Gamma

Pseudo-Hurler Polydystrophy	Mucolipidosis Type Iii Gamma
Ml Iii Gamma	Mucolipidosis Iiic
Ml Iiic	Mucolipidosis Type Iii
Mucolipidosis Iii, Complementation Group C	Mucolipidosis Iii, Iranian Variant Form
Mucolipidosis Iii, Variant Form	Mucolipidosis Iii
Mucolipidosis Iii, Variant	Ml 3 Gamma
Mucolipidosis Type 3 Gamma	Mucolipidosis Type Iii Complementation Group C
MLIIIC	Variant Pseudo-Hurler Polydystrophy
Mucolipidosis, Type Iii, Gamma

Speech Disorder

Speech Disorders

Articulation Disorder

Phonological Disorder	Articulation Disorders
Articulation Impairment	Speech Sound Disorders

46,Xy Sex Reversal 7

SRXY7	46,Xy Sex Reversal, Partial Or Complete, Dhh-Related
46,Xy Gonadal Dysgenesis, Partial Or Complete, Dhh-Related	Gdxym
Gonadal Dysgenesis, Xy, Male-Limited	46xy Sex Reversal 7
Gonadal Dysgenesis, Xy, Male Limited	Complete Pure Gonadal Dysgenesis 46,Xy Type
Male-Limited Gonadal Dysgenesis 46,Xy	46,Xy Gonadal Dysgenesis, Complete Or Partial, Dhh-Related

Her2-Receptor Positive Breast Cancer

Dyslexia

Hurler Syndrome

Mucopolysaccharidosis Ih	Mucopolysaccharidosis Type Ih
Mps1-H	MPS1H
Hurler Disease	Mpsih
Mucopolysaccharidosis Type 1h	Alpha-L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Hurler Disease Mps Type 1h
Hurler-Pfaundler Syndrome	L-Iduronidase Deficiency, Hurler Type
Mucopolysaccharidosis Type I Severe Form	Mucopolysaccharidosis 1h
Hurler'S Syndrome	Mps Ih
Mps-Ih	Pfaundler-Hurler Syndrome
Mucopolysaccharidosis I

Charcot-Marie-Tooth Disease, Axonal, Type 2v

CMT2V	Charcot-Marie-Tooth Disease Axonal Type 2v
Charcot-Marie-Tooth Neuropathy, Type 2v	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2v
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2v	Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2v
Charcot-Marie-Tooth Neuropathy Type 2v	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Naglu Mutation
Hereditary Adult-Onset Painful Axonal Polyneuropathy	Charcot-Marie-Tooth Disease 2v

Alcoholic Gastritis

Alcoholic Gastritis, With Hemorrhage	Alcoholic Gastritis, Without Mention Of Hemorrhage
Alcohol Gastritis	Etoh Gastritis

Gingival Hypertrophy

Hypertrophy Of Gingivae

Acute Laryngitis

Acute Laryngitis Nos	Laryngeal Inflammation
Laryngitis Nos	Larynx Inflammation

Tarsal Tunnel Syndrome

Neuropathy Of The Posterior Tibial Nerve And Its Branches	Posterior Tibial Nerve Neuralgia
Compression Of Posterior Tibial Nerve In Tarsal Tunnel

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis	Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
MPSPS	Mucopolysaccharidoses
Mps	Mucopolysaccharidosis-Like Plus Disease
Disorders Of Glycosaminoglycan Metabolism

Tibial Neuropathy

Posterior Tibial Neuropathy

Vitamin D Hydroxylation-Deficient Rickets, Type 1b

VDDR1B	Vitamin D-Dependent Rickets Type 1b
Vitamin D-Dependent Rickets, Type 1b	25-Hydroxyvitamin D3 Deficiency, Selective
Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency	Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency
Rickets Vitamin D-Dependent 1b	25-Hydroxyvitamimn D3 Deficiency Selective
25-Hydroxyvitamin D(3) Deficiency	Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency
Selective 25-Hydroxyvitamin D(3) Deficiency	Rickets Due To Defect In Vitamin D 25-Hydroxylation

Cornelia De Lange Syndrome 1

De Lange Syndrome	CDLS1
Cdl	Cdls
Typus Degenerativus Amstelodamensis	Brachmann-De Lange Syndrome
Bdls	Amstelodamensis Typus Degenerativus
Cornelia De Lange Syndrome, Type 1

Specific Language Impairment

Language Impairment, Specific

Deficiency Anemia

Anemia	Deficiency Anemias
Anaemia

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-E70305	GlcNAc-1-Phosphotransferase		/	否
HY-RS05574	GNPTAB 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	GNPTAB	VGNC	VGNC:41334
Rattus norvegicus	GNPTAB	RGD	RGD:1564821
Felis catus	GNPTAB	VGNC	VGNC:62633
Mus musculus	GNPTAB	MGD	MGI:3643902
Bos taurus	GNPTAB	VGNC	VGNC:29479
Macaca mulatta	GNPTAB	VGNC	VGNC:73036

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