1. Gene
  2. GMPPA - GDP-mannose pyrophosphorylase A Gene

GMPPA - GDP-mannose pyrophosphorylase A Gene

中文名称:GDP-甘露糖焦磷酸化酶 A

种属: Homo sapiens

同用名: AAMR

基因 ID: 29926 | 基因类型: protein coding

关于 GMPPA

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:219,498,891-219,506,989 (from NCBI)

This gene has 48 transcripts (splice variants), 216 orthologues, 3 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 13.3), prostate (RPKM 10.8) and 25 other tissues.

功能概要

该基因被认为编码 GDP-甘露糖焦磷酸化酶。该酶催化将 1-磷酸甘露糖和 GTP 转化为 GDP-甘露糖的反应,后者参与 N-连接寡糖的生产。[RefSeq 提供,2008 年 7 月]

This gene is thought to encode a GDP-mannose pyrophosphorylase. This Enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

GMPPA 基因产物(4)

mRNA Protein Name
NM_001374294.1 NP_001361223.1 mannose-1-phosphate guanyltransferase alpha
NM_001374295.1 NP_001361224.1 mannose-1-phosphate guanyltransferase alpha
NM_013335.4 NP_037467.2 mannose-1-phosphate guanyltransferase alpha
NM_205847.3 NP_995319.1 mannose-1-phosphate guanyltransferase alpha
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 enzyme binding IPI
IPI: 通过物理相互作用推断
33986552 GOA
enables enzyme inhibitor activity IDA
IDA: 通过直接分析推断
33986552 GOA
NOT enables mannose-1-phosphate guanylyltransferase (GTP) activity IDA
IDA: 通过直接分析推断
33986552 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in GDP-mannose metabolic process IMP
IMP: 通过突变表型推断
33986552 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of GDP-mannose pyrophosphorylase complex IDA
IDA: 通过直接分析推断
33986552 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

GMPPA 蛋白结构

NTP_transferase

NTP_transferase: Nucleotidyl transferase (3 - 194)

Hexapep

Hexapep: Bacterial transferase hexapeptide (six repeats) (286 - 319)

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

mannose-1-phosphate guanyltransferase alpha

GMPP-alpha

GMPPA 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
GMPPA Q96IJ6 GTF3C3 Homo sapiens Q9Y5Q9
Y2H Pooling
32814053
种属内
GMPPA Q96IJ6 GTF3C3 Homo sapiens Q9Y5Q9
Validated Y2H
32814053
种属内
GMPPA Q96IJ6 GTF3C3 Homo sapiens Q9Y5Q9
Y2H Array
32814053
种属内
GMPPA Q96IJ6 BTC Homo sapiens P35070
Validated Y2H
25416956
种属内
GMPPA Q96IJ6 BTC Homo sapiens P35070
Y2H Prey Pooling
25416956
种属内
GMPPA Q96IJ6 GMPPB Homo sapiens Q9Y5P6
Y2H Prey Pooling
25416956
种属内
GMPPA Q96IJ6 GMPPB Homo sapiens Q9Y5P6
Validated Y2H
32296183
种属内
GMPPA Q96IJ6 GMPPB Homo sapiens Q9Y5P6
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
Alacrima, Achalasia, And Mental Retardation Syndrome

AAMR

Alacrima, Achalasia, And Intellectual Disability Syndrome

Alacrima, Achalasia, And Impaired Intellectual Development Syndrome

Intellectual Disability

Achalasia-Addisonianism-Alacrima Syndrome

Allgrove Syndrome

Triple-A Syndrome

Achalasia-Addisonianism-Alacrimia Syndrome

Alacrima-Achalasia-Adrenal Insufficiency Neurologic Disorder

Triple A Syndrome

Aaa Syndrome

AAAS

Glucocorticoid Deficiency With Achalasia

Glucocorticoid Deficiency And Achalasia

Addisonian-Achalasia Syndrome

Hypoadrenalism With Achalasia

Alacrima-Achalasia-Addisonianism

Aaa

Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima

Achalasia Addisonianism Alacrimia Syndrome

Achalasia Alacrima Syndrome

Addisonian Achalasia Syndrome

Achalasia-Addisonian Syndrome

Achalasia-Alacrima Syndrome

2a Syndrome

3a Syndrome

4a Syndrome

Adrenal Insufficiency-Achalasia-Alacrima Syndrome

Double A Syndrome

Quaternary A Syndrome

Acth-Resistant Adrenal Insufficiency With Achalasia And Alacrima

Allgrove'S Syndrome

Adrenal Gland Hypofunction

Adrenal Cortical Hypofunction

Gastroesophageal Reflux

Gastroesophageal Reflux Disease

Gerd

GER

Gastroesophageal Reflux, Pediatric

Acid Reflux

Gastresophageal Reflux

Gastro-Esophageal Reflux

Gerd - Gastro-Esophageal Reflux Disease

Achalasia

Cardiospasm

Achalasia Of Cardia

Esophageal Achalasia

Hypertensive Lower Esophageal Sphincter

Idiopathic Achalasia

Achalasia Cardia

Idiopathic Achalasia Of Esophagus

Primary Achalasia

Achalasia Of Esophagus

Lack Of Reflex Relaxation Of Lower Oesophageal Sphincter

Aperistalsis Of The Oesophagus

Achalasia Of Oesophagus

Oesophageal Achalasia

Achalasia Nos

Cardia Spasm

Cardia Achalasia

Oesophageal Cardiospasm

Oesophagus Achalasia

Reflex Cardiospasm

Anisocoria
Developmental And Epileptic Encephalopathy 42

DEE42

Epileptic Encephalopathy, Early Infantile, 42

Eiee42

Developmental And Epileptic Encephalopathy, 42

Early Infantile Epileptic Encephalopathy 42

Encephalopathy, Epileptic, Early Infantile, Type 42

Congenital Disorder Of Glycosylation, Type Iiq

CDG2Q

Cdg Iiq

Cdgiiq

Congenital Disorder Of Glycosylation Type Iiq

Cog2-Cdg

Cog2-Related Congenital Disorder Of Glycosylation

Cdgiidq

Congenital Disorder Of Glycosylation 2q

Cdg-Iiq

Developmental And Epileptic Encephalopathy 15

DEE15

Epileptic Encephalopathy, Early Infantile, 15

Eiee15

Developmental And Epileptic Encephalopathy, 15

Early Infantile Epileptic Encephalopathy 15

Encephalopathy, Epileptic, Early Infantile, Type 15

Early Infantile Epileptic Encephalopathy With Suppression Bursts

X-Linked Infantile Spasm Syndrome

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

Congenital Disorder Of Glycosylation, Type Iin

CDG2N

Slc39a8-Cdg

Cdg Iin

Congenital Disorder Of Glycosylation Type Iin

Cdgiin

Carbohydrate Deficient Glycoprotein Syndrome Type Iin

Cdg Syndrome Type Iin

Congenital Disorder Of Glycosylation Type 2n

Cdg-Iin

Cdgiidn

Slc39a8 Deficiency

Congenital Disorder Of Glycosylation 2n

Glycosylation, Congenital Disorder Of, Type Iin

Congenital Disorder Of Glycosylation, Type Iii

CDG2I

Congenital Disorder Of Glycosylation Type Iii

Cdgiii

Carbohydrate Deficient Glycoprotein Syndrome Type Iii

Congenital Disorder Of Glycosylation Type 2i

Cog5-Cdg

Cdgiidi

Congenital Disorder Of Glycosylation 2i

Glycosylation, Congenital Disorder Of, Type Iii

Congenital Disorder Of Glycosylation, Type I-Iix

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

Walker-Warburg Syndrome

Hard Syndrome

Walker-Warburg Congenital Muscular Dystrophy

Cerebroocular Dysplasia-Muscular Dystrophy Syndrome

Cod-Md Syndrome

Chemke Syndrome

Hydrocephalus, Agyria And Retinal Dysplasia

Cerebroocular Dysgenesis

Cerebroocular Dysplasia Muscular Dystrophy Syndrome

Hard +/- E Syndrome

Pagon Syndrome

Warburg Syndrome

Hydrocephalus, Agyria, And Retinal Dysplasia

Mddga

Muscular Dystrophy-Dystroglycanopathy , Type A

Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A

Hydrocephalus-Agyria-Retinal Dysplasia Syndrome

Wws

Dystrophy, Muscular, Dystroglycanopathy, Type A

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 GMPPA VGNC VGNC:41292
Felis catus GMPPA VGNC VGNC:62610
Bos taurus GMPPA VGNC VGNC:29440
Macaca mulatta GMPPA VGNC VGNC:72983
Mus musculus GMPPA MGD MGI:1916330
Rattus norvegicus GMPPA RGD RGD:1560644