QRSL1 - glutaminyl-tRNA amidotransferase subunit QRSL1 Gene

中文名称：谷氨酰胺酰 tRNA 氨基转移酶亚基 QRSL1

种属: Homo sapiens

同用名: GatA; COXPD40

基因 ID: 55278 | 基因类型: protein coding

关于 QRSL1

Cytogenetic location: 6q21 Genomic coordinates (GRCh38): 6:106,629,578-106,668,417 (from NCBI)

This gene has 3 transcripts (splice variants), 210 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 7.2), thyroid (RPKM 5.6) 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 40。[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 40. [provided by Alliance of Genome Resources, Apr 2022]

QRSL1 基因产物(1)

mRNA	Protein	Name
NM_018292.5	NP_060762.3	glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

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	19805282	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

QRSL1 蛋白结构

Amidase

0
100
200
300
400
500
528 a.a.

蛋白主名

其他名称

glutamyl-tRNA(Gln) amidotransferase subunit A, mitochondrial

QRSL1, glutaminyl-tRNA amidotransferase subunit A

QRSL1 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	QRSL1	Q9H0R6	GATB	Homo sapiens	O75879	Anti Tag CoIP	33961781
种属内	QRSL1	Q9H0R6	GATB	Homo sapiens	O75879	GMS	19805282
种属内	QRSL1	Q9H0R6	GATB	Homo sapiens	O75879	Anti Tag CoIP	28514442
种属内	QRSL1	Q9H0R6	GATC	Homo sapiens	O43716	GMS	19805282

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

Combined Oxidative Phosphorylation Deficiency 40

COXPD40	Qrsl1-Related Coxpd
Qrsl1-Related Combined Oxidative Phosphorylation Defect

Combined Oxidative Phosphorylation Deficiency

Ornithosis

Psittacosis	Chlamydial Pneumonia
Chlamydia Psittaci Infection	Chlamydia Psittaci

Hypoparathyroidism-Deafness-Renal Disease Syndrome

Barakat Syndrome	Hypoparathyroidism, Deafness, Renal Disease Syndrome
Hdr Syndrome	Hypoparathyroidism, Sensorineural Deafness, And Renal Disease

Lymphogranuloma Venereum

Climatic Or Tropical Bubo	Durand-Nicolas-Favre Disease
Lymphogranuloma Inguinale	Poradenitis Inguinale
Strumous Bubo	Lgv

Granuloma Inguinale

Donovanosis	Pudendal Ulcer
Granuloma Inguinale Tropicum	Granuloma Pudendi Tropicum

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

Glycerol Kinase Deficiency

Hyperglycerolemia	GKD
Gk Deficiency	Gk1 Deficiency
Deficiency Of Glycerol Kinase	Isolated Glycerol Kinase Deficiency
Glycerol Kinase Deficiency, Adult Form	Glycerol Kinase Deficiency, Juvenile Form
Deficiency, Glycerol Kinase

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11507	QRSL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	QRSL1	VGNC	VGNC:56807
Rattus norvegicus	QRSL1	RGD	RGD:1359490
Felis catus	QRSL1	VGNC	VGNC:64460
Macaca mulatta	QRSL1	VGNC	VGNC:83455
Mus musculus	QRSL1	MGD	MGI:1923813

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