1. Gene
  2. GNPTG - N-acetylglucosamine-1-phosphate transferase subunit gamma Gene

GNPTG - N-acetylglucosamine-1-phosphate transferase subunit gamma Gene

中文名称:N-乙酰葡糖胺-1-磷酸转移酶γ亚基

种属: Homo sapiens

同用名: RJD9; GNPTAG; LP2537; C16orf27

基因 ID: 84572 | 基因类型: protein coding

关于 GNPTG

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:1,351,931-1,364,113 (from NCBI)

This gene has 14 transcripts (splice variants), 180 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 53.6), kidney (RPKM 34.3) and 25 other tissues.

功能概要

该基因编码 N-乙酰葡糖胺-1-磷酸转移酶复合物的 γ sunbunit。这种由 α、β 和 γ 亚基组成的六聚体复合物催化合成甘露糖 6-磷酸溶酶体识别标记物的第一步。这种酶复合物是将溶酶体水解酶靶向溶酶体所必需的。编码 γ 亚基的基因突变与粘脂贮积症 IIIC 有关,也称为粘脂贮积症 III gamma。[RefSeq 提供,2010 年 2 月]

This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This Enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]

GNPTG 基因产物(1)

mRNA Protein Name
NM_032520.5 NP_115909.1 N-acetylglucosamine-1-phosphotransferase subunit gamma 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 protein binding IPI
IPI: 通过物理相互作用推断
26385638 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in carbohydrate phosphorylation IDA
IDA: 通过直接分析推断
19955174 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
27038293 GOA
part of UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase complex IPI
IPI: 通过物理相互作用推断
26385638 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

GNPTG 蛋白结构

PRKCSH_1

PRKCSH_1: Glucosidase II beta subunit-like protein (64 - 173)

  • 0
  • 100
  • 200
  • 305 a.a.
蛋白主名 其他名称

N-acetylglucosamine-1-phosphotransferase subunit gamma

N-acetylglucosamine-1-phosphate transferase gamma subunit

GNPTG 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
GNPTG Q9UJJ9 GNPTAB Homo sapiens Q3T906
Anti Tag CoIP
26385638
种属内
GNPTG Q9UJJ9 GNPTAB Homo sapiens Q3T906
Anti Tag CoIP
28514442
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 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

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

Mucolipidoses
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

Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Articulation Disorder

Phonological Disorder

Articulation Disorders

Articulation Impairment

Speech Sound Disorders

Speech Disorder

Speech Disorders

Tarsal Tunnel Syndrome

Neuropathy Of The Posterior Tibial Nerve And Its Branches

Posterior Tibial Nerve Neuralgia

Compression Of Posterior Tibial Nerve In Tarsal Tunnel

Tibial Neuropathy

Posterior Tibial Neuropathy

Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency Of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

MANSA

Mannosidosis, Alpha-, Types I And Ii

Alpha-D-Mannosidosis

Alpha-Mannosidase Deficiency

Α-Mannosidosis

Alpha Mannosidase B Deficiency

Mannosidosis, Alpha B Lysosomal

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Alpha-Mannosidosis, Adult Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis Types I And Ii

Mannosidase Deficiency Diseases

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

Dysostosis

Dysostoses

Gingival Hypertrophy

Hypertrophy Of Gingivae

Specific Language Impairment

Language Impairment, Specific

Scoliosis
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

Cerebrooculofacioskeletal Syndrome 1

Cofs Syndrome

COFS1

Pena-Shokeir Syndrome Type 2

Cofs

Pena-Shokeir Syndrome, Type Ii

Cerebrooculofacioskeletal Syndrome

Cerebro-Oculo-Facio-Skeletal Syndrome 1

Pena Shokeir Syndrome Type 2

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
Mus musculus GNPTG MGD MGI:2147006
Macaca mulatta GNPTG VGNC VGNC:99511
Rattus norvegicus GNPTG RGD RGD:1311614
Bos taurus GNPTG VGNC VGNC:29480
Felis catus GNPTG VGNC VGNC:62634
Canis familiaris GNPTG VGNC VGNC:41335