2. Gene
  3. GATB - glutamyl-tRNA amidotransferase subunit B Gene

GATB - glutamyl-tRNA amidotransferase subunit B Gene

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

中文名称：谷氨酰 tRNA 氨基转移酶 B 亚基

种属: Homo sapiens

同用名: PET112; COXPD41; HSPC199; PET112L

基因 ID: 5188 | 基因类型: protein coding

关于 GATB

Cytogenetic location: 4q31.3 Genomic coordinates (GRCh38): 4:151,670,504-151,761,007 (from NCBI)

This gene has 14 transcripts (splice variants), 210 orthologues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 11.7), kidney (RPKM 7.9) and 25 other tissues.

功能概要

启用谷氨酰胺酰-tRNA 合酶 (谷氨酰胺水解) 活性。通过转酰胺作用和线粒体翻译参与谷氨酰胺酰-tRNAGln 生物合成。位于线粒体中。谷氨酰-tRNA (Gln) 氨基转移酶复合物的一部分。涉及联合氧化磷酸化缺陷 41。[由基因组资源联盟提供，2022 年 4 月]

Enables glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined Oxidative Phosphorylation deficiency 41. [provided by Alliance of Genome Resources, Apr 2022]

GATB 基因产物(2)

mRNA Protein Name
NM_001363341.2 NP_001350270.1 glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 2 precursor
NM_004564.3 NP_004555.1 glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial isoform 1 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
contributes to glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity IDA
IDA: 通过直接分析推断
19805282 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19805282 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glutaminyl-tRNAGln biosynthesis via transamidation IDA
IDA: 通过直接分析推断
19805282 GOA
involved in mitochondrial translation IMP
IMP: 通过突变表型推断
19805282 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of glutamyl-tRNA(Gln) amidotransferase complex IDA
IDA: 通过直接分析推断
19805282 GOA
part of glutamyl-tRNA(Gln) amidotransferase complex IPI
IPI: 通过物理相互作用推断
19805282 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
9878253 GOA
located in mitochondrion IMP
IMP: 通过突变表型推断
30283131 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

GATB 蛋白结构

GatB_N

GatB_N: GatB/GatE catalytic domain (65 - 350)

GatB_Yqey

GatB_Yqey: GatB domain (406 - 555)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 557 a.a.
蛋白主名 其他名称

glutamyl-tRNA(Gln) amidotransferase subunit B, mitochondrial

PET112 homolog

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 41

COXPD41
Combined Oxidative Phosphorylation Deficiency
Bejel

Njovera

Dichuchwa

Nonvenereal Endemic Syphilis

Endemic Syphilis

Frenga

Nonvenereal Syphilis

Treponemal Infections

Non-Venereal Endemic Syphilis

Siti

Skerljevo

Belesh
St. Louis Encephalitis

Saint Louis Encephalitis

Neuroinvasive St. Louis Encephalitis Virus Infection

Encephalitis, St. Louis

Neuroinvasive Saint Louis Encephalitis Virus Infection

St. Louis Encephalitis Virus Infection

St. Louis Encephalitis Virus Neuroinvasive Disease

St. Louis Viral Disease

Type C Lethargic Encephalitis

Encephalitis Type C
Chromosome 6q24-Q25 Deletion Syndrome

Chromosome 6q25-Q25 Deletion Syndrome

6q25 Microdeletion Syndrome

Monosomy 6q25

Del(6)(Q25)
Filarial Elephantiasis

Lymphatic Filariasis

Elephantiasis

Filariasis

Bancroftian Elephantiasis

Bancroftian Filarial Chyluria

Elephantiasis Of Eyelid

Bancroftian Filariasis

Elephantitis

Malayi Tropical Eosinphilia

Wuchereria Bancrofti Infection

Wuchereriasis

Elephantiasis, Filarial

Filarial Elephantiases

Infection By Wuchereria Bancrofti

Filarial Lymphangitis

Tropical Elephantiasis

Filarial Chylocele
Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic
Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis
Inflammatory Bowel Disease 1

Inflammatory Bowel Disease 1

IBD1

Crohn Disease-Associated Growth Failure

Crohn Disease

Regional Enteritis

Ulcerative Colitis

Crohn Disease-Associated Growth Failure, Susceptibility To

Inflammatory Bowel Disease 1, Crohn Disease

Bowel Disease, Inflammatory, Type 1
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS05298 GATB Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus GATB VGNC VGNC:53903
Canis familiaris GATB VGNC VGNC:41128
Macaca mulatta GATB VGNC VGNC:72929
Rattus norvegicus GATB RGD RGD:1307864
Felis catus GATB VGNC VGNC:68789
Mus musculus GATB MGD MGI:2442496
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