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  2. WARS1 - tryptophanyl-tRNA synthetase 1 Gene

WARS1 - tryptophanyl-tRNA synthetase 1 Gene

中文名称:色氨酰 tRNA 合成酶 1

种属: Homo sapiens

同用名: HMN9; WARS; IFI53; IFP53; GAMMA-2

基因 ID: 7453 | 基因类型: protein coding

关于 WARS1

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,333,790-100,376,327 (from NCBI)

This gene has 44 transcripts (splice variants), 201 orthologues, 1 paralogue and is associated with 1 phenotype. Broad expression in placenta (RPKM 128.2), appendix (RPKM 87.1) and 24 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。存在两种形式的色氨酸-tRNA 合成酶,一种是细胞质形式,称为 WARS,另一种是线粒体形式,称为 WARS2。色氨酸-tRNA 合成酶 (WARS) 催化 tRNA (trp) 与色氨酸的氨酰化,并由干扰素诱导。色氨酸-tRNA 合成酶属于 I 类 tRNA 合成酶家族。已发现该基因编码两种不同亚型的四种转录变体。[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. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. Tryptophanyl-tRNA synthetase (WARS) catalyzes the aminoacylation of tRNA(trp) with tryptophan and is induced by interferon. Tryptophanyl-tRNA synthetase belongs to the class I tRNA synthetase family. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WARS1 基因产物(4)

mRNA Protein Name
NM_004184.4 NP_004175.2 tryptophan--tRNA ligase, cytoplasmic isoform a
NM_173701.2 NP_776049.1 tryptophan--tRNA ligase, cytoplasmic isoform a
NM_213645.2 NP_998810.1 tryptophan--tRNA ligase, cytoplasmic isoform b
NM_213646.2 NP_998811.1 tryptophan--tRNA ligase, cytoplasmic isoform b

WARS1 蛋白结构

WHEP-TRS

WHEP-TRS: WHEP-TRS domain (12 - 68)

tRNA-synt_1b

tRNA-synt_1b: tRNA synthetases class I (W and Y) (152 - 439)

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  • 471 a.a.
蛋白主名 其他名称

tryptophan--tRNA ligase, cytoplasmic

epididymis secretory sperm binding protein

重组 WARS1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71134 WARS Protein, Human (His) P23381 (M1-Q471) ≥95%
HY-P73540 WARS Protein, Human (sf9, His) P23381 (P2-Q471) ≥95%

关联疾病

疾病名称 别名
Neuronopathy, Distal Hereditary Motor, Type Ix

HMN9

Dhmn9

Neuropathy, Distal Hereditary Motor, Type Ix

Neuronopathy, Distal Hereditary Motor, Type 9

Distal Hereditary Motor Neuronopathy Type 9

Distal Hereditary Motor Neuropathy Type Ix

Neuronopathy, Distal Hereditary Motor, 9

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Developmental And Epileptic Encephalopathy 29

DEE29

Epileptic Encephalopathy, Early Infantile, 29

Eiee29

Developmental And Epileptic Encephalopathy, 29

Early Infantile Epileptic Encephalopathy 29

Encephalopathy, Developmental And Epileptic, Type 29

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

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

Charcot-Marie-Tooth Disease Type 2d

CMT2D

Charcot-Marie-Tooth Disease, Type 2d

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

Charcot-Marie-Tooth Disease Neuronal Type 2d

Charcot-Marie-Tooth Neuropathy Type 2d

Charcot-Marie-Tooth Disease, Neuronal, Type 2d

Charcot-Marie-Tooth Neuropathy, Type 2d

Charcot-Marie-Tooth Disease 2d

Charcot-Marie-Tooth Disease Axonal Type 2d

Osteopetrosis, Autosomal Dominant 2

OPTA2

Autosomal Dominant Osteopetrosis 2

Osteopetrosis Autosomal Dominant Type 2

Osteopetrosis, Autosomal Dominant, Type Ii

Albers-Schonberg Osteopetrosis

Autosomal Dominant Albers-Schonberg Disease

Osteopetrosis

Marble Bones, Autosomal Dominant

Osteosclerosis Fragilis Generalisata

Albers-Schonberg Disease, Autosomal Dominant

Autosomal Dominant Osteopetrosis Type Ii

Albers-Schönberg Osteopetrosis

Autosomal Dominant Osteopetrosis Type 2

Marble Disease Autosomal Dominant

Osteopetrosis, Autosomal Dominant, Type 2

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy

Autosomal Dominant Dhmn

Autosomal Dominant Distal Spinal Muscular Atrophy

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Canis familiaris WARS1 VGNC VGNC:48331
Mus musculus WARS1 MGD MGI:104630
Rattus norvegicus WARS1 RGD RGD:1308278
Bos taurus WARS1 VGNC VGNC:36863
Felis catus WARS1 VGNC VGNC:66999
Macaca mulatta WARS1 VGNC VGNC:78779
Others WARS1 NCBI