2. Gene
  3. NAGPA - N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Gene

NAGPA - N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：N-乙酰葡糖胺-1-磷酸二酯α-N-乙酰葡糖胺酶

种属: Homo sapiens

同用名: UCE; APAA

基因 ID: 51172 | 基因类型: protein coding

关于 NAGPA

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:5,024,844-5,033,935 (from NCBI)

This gene has 18 transcripts (splice variants), 207 orthologues and 4 paralogues. Ubiquitous expression in spleen (RPKM 5.3), stomach (RPKM 4.9) and 25 other tissues.

功能概要

水解酶在与反式高尔基体网络中的甘露糖 6-磷酸受体结合后被转运至溶酶体。该基因编码的酶催化溶酶体水解酶上甘露糖 6-磷酸识别标记形成的第二步。通常称为“揭露酶”或 UCE，这种酶从 GlcNAc-α-P-甘露糖部分去除 N-乙酰-D-葡糖胺 (GlcNAc) 残基，从而产生识别标记。编码的前原蛋白由弗林蛋白酶进行蛋白水解处理，生成成熟酶，即两个二硫键连接的同源二聚体的同源四聚体。该基因的突变与人类患者的发育性口吃有关。[RefSeq 提供，2015 年 10 月]

Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by Furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]

NAGPA 基因产物(1)

mRNA Protein Name
NM_016256.4 NP_057340.2 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase precursor
基因本体论
  • 分子功能
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
26544806 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

NAGPA 蛋白结构

NAGPA

NAGPA: Phosphodiester glycosidase (132 - 324)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 515 a.a.
蛋白主名 其他名称

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase

alpha-N-acetylglucosaminyl phosphodiesterase

关联疾病

疾病名称 别名
Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1
Articulation Disorder

Phonological Disorder

Articulation Disorders

Articulation Impairment

Speech Sound Disorders
Speech Disorder

Speech Disorders
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
Dyslexia
Mucolipidosis
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
Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder
Specific Language Impairment

Language Impairment, Specific
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

相关产品

Pre-clinical Phase
生物活性分子 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09012 NAGPA Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS22668 Nagpa Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS29182 Nagpa Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus NAGPA VGNC VGNC:63714
Canis familiaris NAGPA VGNC VGNC:43610
Rattus norvegicus NAGPA RGD RGD:1308972
Mus musculus NAGPA MGD MGI:1351598
Bos taurus NAGPA VGNC VGNC:31870
Macaca mulatta NAGPA VGNC VGNC:74978
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