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  2. VARS1 - valyl-tRNA synthetase 1 Gene

VARS1 - valyl-tRNA synthetase 1 Gene

中文名称:缬氨酰-tRNA 合成酶 1

种属: Homo sapiens

同用名: G7A; VARS; VARS2; NDMSCA

基因 ID: 7407 | 基因类型: protein coding

关于 VARS1

Cytogenetic location: 6p21.33 Genomic coordinates (GRCh38): 6:31,777,518-31,795,752 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 200 orthologues, 7 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 30.0), appendix (RPKM 11.3) and 25 other tissues.

功能概要

氨酰-tRNA 合成酶通过其同源氨基酸催化 tRNA 的氨酰化。由于它们在将氨基酸与 tRNA 中包含的核苷酸三联体连接起来方面起着核心作用,因此氨酰-tRNA 合成酶被认为是出现在进化过程中的首批蛋白质之一。该基因编码的蛋白质属于 I 类氨酰-tRNA 合成酶家族,位于主要组织相容性复合体的 III 类区域。[RefSeq 提供,2008 年 7 月]

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking Amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. The protein encoded by this gene belongs to class-I Aminoacyl-tRNA Synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

VARS1 基因产物(1)

mRNA Protein Name
NM_006295.3 NP_006286.1 valine--tRNA ligase

VARS1 蛋白结构

GST_N

GST_N: Glutathione S-transferase, N-terminal domain (2 - 81)

GST_C

GST_C: Glutathione S-transferase, C-terminal domain (125 - 198)

tRNA-synt_1

tRNA-synt_1: tRNA synthetases class I (I, L, M and V) (309 - 939)

Anticodon_1

Anticodon_1: Anticodon-binding domain of tRNA (984 - 1131)

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  • 1264 a.a.
蛋白主名 其他名称

valine--tRNA ligase

protein G7a

关联疾病

疾病名称 别名
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy

NDMSCA

Neurodevelopmental Disorder With Microcephaly, Seizures, Cortical Atrophy

Combined Oxidative Phosphorylation Deficiency 20

COXPD20

Combined Oxidative Phosphorylation Defect Type 20

Oxidative Phosphorylation Deficiency, Combined, Type 20

Combined Oxidative Phosphorylation Deficiency 2

COXPD2

Combined Oxidative Phosphorylation Defect Type 2

Agenesis Of Corpus Callosum With Dysmorphism And Fatal Lactic Acidosis

Corpus Callosum, Agenesis Of, With Dysmorphism And Fatal Lactic Acidosis

Combined Oxidative Phosphorylation Deficiency, Type 2

Pulmonary Embolism And Infarction
Combined Oxidative Phosphorylation Deficiency 23

COXPD23

Combined Oxidative Phosphorylation Defect Type 23

Oxidative Phosphorylation Deficiency, Combined, Type 23

Combined Oxidative Phosphorylation Deficiency 24

COXPD24

Combined Oxidative Phosphorylation Defect Type 24

Oxidative Phosphorylation Deficiency, Combined, Type 24

Charcot-Marie-Tooth Disease, Axonal, Type 2u

CMT2U

Charcot-Marie-Tooth Disease Axonal Type 2u

Charcot-Marie-Tooth Neuropathy, Type 2u

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u

Charcot-Marie-Tooth Neuropathy Type 2u

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation

Charcot-Marie-Tooth Disease 2u

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Combined Oxidative Phosphorylation Deficiency 12

COXPD12

Ltbl

Leukoencephalopathy With Thalamus And Brainstem Involvement And High Lactate

Leukoencephalopathy-Thalamus And Brainstem Anomalies-High Lactate Syndrome

Combined Oxidative Phosphorylation Defect Type 12

Combined Oxidative Phosphorylation Deficiency, Type 12

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System 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
Mus musculus VARS1 MGD MGI:90675
Felis catus VARS1 VGNC VGNC:66919
Bos taurus VARS1 VGNC VGNC:36765
Rattus norvegicus VARS1 RGD RGD:3950
Macaca mulatta VARS1 VGNC VGNC:78755
Canis familiaris VARS1 VGNC VGNC:48231