1. Gene
  2. GLS - glutaminase Gene

GLS - glutaminase Gene

中文名称:谷氨酰胺酶

种属: Homo sapiens

同用名: GAC; GAM; KGA; GLS1; AAD20; DEE71; GDPAG; CASGID; EIEE71

基因 ID: 2744 | 基因类型: protein coding

关于 GLS

Cytogenetic location: 2q32.2 Genomic coordinates (GRCh38): 2:190,880,821-190,965,552 (from NCBI)

This gene has 15 transcripts (splice variants), 305 orthologues, 1 paralogue and is associated with 5 phenotypes. Broad expression in kidney (RPKM 48.0), small intestine (RPKM 21.8) and 22 other tissues.

功能概要

该基因编码 K 型线粒体谷氨酰胺酶。编码的蛋白质是一种磷酸盐激活的酰胺水解酶,可催化谷氨酰胺水解为谷氨酸和氨。这种蛋白质主要在大脑和肾脏中表达,在为新陈代谢产生能量、合成大脑神经递质谷氨酸和维持肾脏酸碱平衡方面起着至关重要的作用。交替剪接导致多个转录本变体。[RefSeq 提供,2012 年 1 月]

This gene encodes the K-type mitochondrial Glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

GLS 基因产物(8)

mRNA Protein Name
XM_047443960.1 XP_047299916.1 glutaminase kidney isoform, mitochondrial isoform X4
XM_005246467.3 XP_005246524.1 glutaminase kidney isoform, mitochondrial isoform X2
XM_047443957.1 XP_047299913.1 glutaminase kidney isoform, mitochondrial isoform X3
XR_007072653.1
NM_014905.5 NP_055720.3 glutaminase kidney isoform, mitochondrial isoform 1 precursor
XM_047443958.1 XP_047299914.1 glutaminase kidney isoform, mitochondrial isoform X4
NM_001256310.2 NP_001243239.1 glutaminase kidney isoform, mitochondrial isoform 2
XM_006712435.1 XP_006712498.1 glutaminase kidney isoform, mitochondrial isoform X1
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 glutaminase activity IDA
IDA: 通过直接分析推断
22049910 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16899818 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glutamate biosynthetic process IDA
IDA: 通过直接分析推断
16899818 GOA
involved in glutamine catabolic process IDA
IDA: 通过直接分析推断
22049910 GOA
involved in intracellular glutamate homeostasis IMP
IMP: 通过突变表型推断
30239721 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
22049910 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
16899818 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

GLS 蛋白结构

Glutaminase

Glutaminase: Glutaminase (244 - 530)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (557 - 643)

  • 0
  • 200
  • 400
  • 600
  • 669 a.a.
蛋白主名 其他名称

glutaminase kidney isoform, mitochondrial

K-glutaminase

L-glutamine amidohydrolase

glutaminase C

glutaminase, phosphate-activated

GLS 抗体

目录号 产品名 应用 反应物种
HY-P80690 Glutaminase Antibody (YA406) WB, ICC/IF, IP Human, Mouse, Rat
HY-P86596 Glutaminase Antibody (YA6288) WB, IHC-P, ICC/IF, IP, ELISA Human, Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development

CASGID

Esophageal Atresia

Tracheoesophageal Fistula

Congenital Atresia Of Esophagus

Congenital Imperforate Esophagus

Imperforate Esophagus

Oesophageal Atresia

Te Fistula

Tef

Tracheoesophageal Fistula With Or Without Esophageal Atresia

Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine

GDPAG

Glutaminase Deficiency With Impaired Intellectual Development And Progressive Ataxia

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Developmental And Epileptic Encephalopathy 71

DEE71

Epileptic Encephalopathy, Early Infantile, 71

Glutaminase Deficiency With Neonatal Epileptic Encephalopathy

Eiee71

Developmental And Epileptic Encephalopathy, 71

Early Infantile Epileptic Encephalopathy 71

Neonatal Epileptic Encephalopathy Due To Glutaminase Deficiency

Hepatic Encephalopathy

Encephalopathy, Hepatic

Portal-Systemic Encephalopathy

Hepatoencephalopathy

He - [Hepatic Encephalopathy]

Hepatic Encephalopathy Nos

Hepatic Encephalopathy, Stage Unspecified

Hepatic Coma

Hepatocerebral Encephalopathy

Hepatocerebral Intoxication

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

Spastic Ataxia-Dysarthria Due To Glutaminase Deficiency
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Pylorus Cancer

Ca Pylorus - Stomach

Malignant Neoplasm Of Prepylorus

Malignant Neoplasm Of Pylorus Of Stomach

Malignant Tumor Of Pylorus

Malignant Neoplasm Of Pylorus

Autosomal Recessive Disease

Autosomal Recessive Disorder

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
Felis catus GLS VGNC VGNC:62594
Mus musculus GLS MGD MGI:95752
Macaca mulatta GLS VGNC VGNC:99365
Bos taurus GLS VGNC VGNC:29419
Canis familiaris GLS VGNC VGNC:41276
Rattus norvegicus GLS RGD RGD:2707