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

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

Stealth_CR2: Stealth protein CR2, conserved region 2 (322 - 426)

Notch

Notch: LNR domain (434 - 469)

Notch

Notch: LNR domain (502 - 535)

DMAP_binding

DMAP_binding: DMAP1-binding Domain (700 - 813)

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

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