1. Gene
  2. GLUL - glutamate-ammonia ligase Gene

GLUL - glutamate-ammonia ligase Gene

中文名称:谷氨酸氨连接酶

种属: Homo sapiens

同用名: GS; GLNS; PIG43; PIG59

基因 ID: 2752 | 基因类型: protein coding

关于 GLUL

Cytogenetic location: 1q25.3 Genomic coordinates (GRCh38): 1:182,378,098-182,391,790 (from NCBI)

This gene has 13 transcripts (splice variants), 297 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 227.2), brain (RPKM 128.5) and 24 other tissues.

功能概要

该基因编码的蛋白质属于谷氨酰胺合成酶家族。它在 ATP 依赖性反应中催化谷氨酸和氨合成谷氨酰胺。这种蛋白质在氨和谷氨酸解毒、酸碱稳态、细胞信号传导和细胞增殖中发挥作用。谷氨酰胺是一种丰富的氨基酸,对多种氨基酸、嘧啶和嘌呤的生物合成很重要。该基因的突变与先天性谷氨酰胺缺乏症有关,并且在一些原发性肝癌样本中观察到该基因的过度表达。在 2 号、5 号、9 号、11 号和 12 号染色体上发现了该基因的六个假基因。可变剪接导致多个转录变体。[RefSeq 提供,2014 年 12 月]

The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several Amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver Cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GLUL 基因产物(3)

mRNA Protein Name
NM_001033044.4 NP_001028216.1 glutamine synthetase
NM_001033056.4 NP_001028228.1 glutamine synthetase
NM_002065.7 NP_002056.2 glutamine synthetase

GLUL 蛋白结构

Gln-synt_N

Gln-synt_N: Glutamine synthetase, beta-Grasp domain (26 - 103)

Gln-synt_C

Gln-synt_C: Glutamine synthetase, catalytic domain (111 - 358)

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

glutamine synthetase

cell proliferation-inducing protein 59

重组 GLUL 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70294 Glutamine synthetase/GLUL Protein, Human (His) P15104 (T2-N373) ≥95%

关联疾病

疾病名称 别名
Glutamine Deficiency, Congenital

Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency

Glutamine Synthase Deficiency, Congenital Systemic

Congenital Glutamine Deficiency

Glutamine Synthetase Deficiency, Congenital Systemic

Inherited Gs Deficiency

Inherited Glutamine Synthetase Deficiency

Congenital Systemic Glutamine Deficiency

CSGD

Hepatocellular Carcinoma

Liver Cancer

Primary Liver Cancer

HCC

Hepatoma

Malignant Neoplasm Of Liver

Liver Neoplasms

Cancer, Hepatocellular

Liver Cell Carcinoma

Lcc

Hepatoblastoma, Somatic

Hepatic Cancer

Primary Malignant Neoplasm Of Liver

Rare Tumor Of Liver And Intrahepatic Biliary Tract

Hepatocellular Carcinoma, Somatic

Hepatocellular Carcinoma, Childhood Type, Somatic

Hepatocellular Cancer, Somatic

Ca Liver - Primary

Hepatic Neoplasm

Malignant Hepato-Biliary Neoplasm

Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

Malignant Neoplasm Of Liver, Primary

Malignant Tumor Of Liver

Neoplasm Of Liver

Non-Resectable Primary Hepatic Malignant Neoplasm

Resectable Malignant Neoplasm Of Liver

Resectable Malignant Neoplasm Of The Liver

Primary Liver Carcinoma

Primary Malignant Liver Neoplasm

Primary Cancer Of Liver

Primary Tumor Of The Liver

Rare Tumor Of Liver And Ibt

Hepatocellular Cancer

Neoplasm Of The Liver

Carcinoma, Hepatocellular

Hepatomas

Liver Neoplasm

Liver Carcinoma

Liver And Intrahepatic Biliary Tract Carcinoma

Malignant Hepatobiliary Neoplasm

Adult Primary Hepatocellular Carcinoma

Hepatoblastoma

Carcinoma Of Liver

Malignant Liver Tumour

Malignant Hepatic Tumour

Hepatic Encephalopathy

Encephalopathy, Hepatic

Portal-Systemic Encephalopathy

Hepatoencephalopathy

He - [Hepatic Encephalopathy]

Hepatic Encephalopathy Nos

Hepatic Encephalopathy, Stage Unspecified

Hepatic Coma

Hepatocerebral Encephalopathy

Hepatocerebral Intoxication

Hepatocellular Adenoma

Adenoma Hepatocellular

Brain Edema

Cerebral Edema

Intracranial Swelling

Wet Brain

Liver Benign Neoplasm

Epithelial Hepatic And Intrahepatic Bile Duct Neoplasm

Reye Syndrome

Reye'S Syndrome

Rasmussen Encephalitis

Fatty Liver With Encephalopathy

Rasmussen'S Encephalitis

Re

Rs

Rasmussen Syndrome

Liver Fatty Metamorphosis--Acute Encephalopathy Syndrome

Reye Encephalopathy

Retinal Detachment

Retinal Detachments

Rhegmatogenous Retinal Detachment

Ruptured Retina With Detachment

Retinal Hole With Detachment

Temporal Lobe Epilepsy

Epilepsy, Temporal Lobe

Epilepsy Temporal Lobe

Glutathione Synthetase Deficiency

5-Oxoprolinuria

Pyroglutamic Aciduria

Pyroglutamicaciduria

Glutathione Synthetase Deficiency With 5-Oxoprolinuria

GSSD

Oxoprolinase Deficiency

5-Oxoprolinemia

Deficiency Of Glutathione Synthase

Deficiency Of Glutathione Synthetase

Pyroglutamic Acidemia

GSS DEFICIENCY

Gluthathione Synthetase Deficiency

5-Oxoprolinase Deficiency

Oligodendroglioma

Oligodendroglial Neoplasm

Oligodendroglial Tumor

Oligodendroglial Tumors

Well Differentiated Oligodendroglioma

Preretinal Fibrosis

Cellophane Maculopathy

Macular Puckering Of Retina

Macular Retinal Puckering

Epiretinal Membrane

Vitreoretinopathy, Neovascular Inflammatory

Proliferative Vitreoretinopathy

Adniv

Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy

VRNI

Pvr

Neovascular Inflammatory Vitreoretinopathy

Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant

Retinitis Proliferans

Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant

Vitreoretinopathy Proliferative

Vitreoretinopathy, Proliferative

Proliferative Vitreo-Retinopathy

Peliosis Hepatis

Hepatic Peliosis

Telangiectasis Of Liver

Angiomatosis Of Liver

Ph - [Peliosis Hepatis]

Hepatic Angiomatosis

Hepatoblastoma
Hepatic Coma

Hepatic Encephalopathy

Hepatocerebral Intoxication

Hyperinsulinism

Hyperinsulinemia

Fibrolamellar Carcinoma

Fibrolamellar Hepatocellular Carcinoma

Fhcc

Fibrolamellar Hepatocarcinoma

Hepatocellular Carcinoma, Fibrolamellar

Oncocytic Hepatocellular Tumor

Eosinophilic Glassy Cell Hepatoma

Eosinophilic Hepatocellular Carcinoma With Lamellar Fibrosis

Fl-Hcc

Fibrolamellar Oncocytic Hepatoma

Hepatocellular Carcinoma With Increased Stromal Fibrosis

Polygonal Cell Hepatocellular Carcinoma With Fibrous Stroma

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Mycobacterium Tuberculosis 1

Tuberculosis

Tuberculoma

Tuberculosis, Susceptibility To

Mycobacterium Tuberculosis, Susceptibility To, 1

Mtbs1

TB

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Myopathy

Muscular Diseases

Myopathies

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Rattus norvegicus GLUL RGD RGD:2710
Mus musculus GLUL MGD MGI:95739
Felis catus GLUL VGNC VGNC:97445
Canis familiaris GLUL VGNC VGNC:103678
Macaca mulatta GLUL VGNC VGNC:99962
Bos taurus GLUL VGNC VGNC:29426
Others GLUL NCBI