2. Gene
  3. CARS1 - cysteinyl-tRNA synthetase 1 Gene

CARS1 - cysteinyl-tRNA synthetase 1 Gene

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

中文名称：半胱氨酰-tRNA 合成酶 1

种属: Homo sapiens

同用名: CARS; MDBH; CYSRS; MCDDBH; MGC:11246

基因 ID: 833 | 基因类型: protein coding

关于 CARS1

Cytogenetic location: 11p15.4 Genomic coordinates (GRCh38): 11:3,000,929-3,057,423 (from NCBI)

This gene has 15 transcripts (splice variants), 1 gene allele, 203 orthologues, 1 paralogue and is associated with 69 phenotypes. Ubiquitous expression in thyroid (RPKM 12.8), brain (RPKM 10.8) and 25 other tissues.

功能概要

该基因编码 1 类氨酰-tRNA 合成酶、半胱氨酰-tRNA 合成酶。二十种氨酰-tRNA 合成酶中的每一种都催化特定 tRNA 或 tRNA 同工酶家族与同源氨基酸的氨酰化。该基因是位于染色体 11p15.5 印迹基因域附近的几个基因之一，这是一个重要的肿瘤抑制基因区域。该区域的改变与 Beckwith-Wiedemann 综合征、肾母细胞瘤、横纹肌肉瘤、肾上腺皮质癌以及肺癌、卵巢癌和乳腺癌有关。该基因的可变剪接导致多个转录变体。[RefSeq 提供，2010 年 8 月]

This gene encodes a class 1 Aminoacyl-tRNA Synthetase, cysteinyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. This gene is one of several located near the imprinted gene domain on chromosome 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2010]

CARS1 基因产物(9)

mRNA Protein Name
NM_001014437.3 NP_001014437.1 cysteine--tRNA ligase, cytoplasmic isoform c
NM_001194997.2 NP_001181926.1 cysteine--tRNA ligase, cytoplasmic isoform e
NM_001378136.1 NP_001365065.1 cysteine--tRNA ligase, cytoplasmic isoform f
NM_001378137.1 NP_001365066.1 cysteine--tRNA ligase, cytoplasmic isoform g
NM_001378138.1 NP_001365067.1 cysteine--tRNA ligase, cytoplasmic isoform h
NM_001378139.1 NP_001365068.1 cysteine--tRNA ligase, cytoplasmic isoform h
NM_001378140.1 NP_001365069.1 cysteine--tRNA ligase, cytoplasmic isoform i
NM_001751.6 NP_001742.1 cysteine--tRNA ligase, cytoplasmic isoform b
NM_139273.4 NP_644802.1 cysteine--tRNA ligase, cytoplasmic isoform a

CARS1 蛋白结构

tRNA-synt_1e

tRNA-synt_1e: tRNA synthetases class I (C) catalytic domain (45 - 452)

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

cysteine--tRNA ligase, cytoplasmic

cysteine tRNA ligase 1, cytoplasmic

关联疾病

疾病名称 别名
Microcephaly, Developmental Delay, And Brittle Hair Syndrome

MDBH
Inflammatory Myofibroblastic Tumor

Inflammatory Fibrosarcoma
Secondary Hyperparathyroidism

Hyperparathyroidism Secondary

Hyperparathyroidism, Secondary

Secondary Hyperparathyroidism Nec
Hypocalcemia, Autosomal Dominant 1

Autosomal Dominant Hypocalcemia

Autosomal Dominant Hypocalcemia 1

HYPOC1

Hypocalcemia, Autosomal Dominant

Hypercalciuric Hypocalcemia

Hypocalcemia, Autosomal Dominant, With Bartter Syndrome

Familial Hypocalcemia

Hypocalcemia, Familial

Hypoc

Adh

Autosomal Dominant Hypoparathyroidism

Familial Hypercalciuric Hypocalcemia

Ad Hypocalcemia

Autosomal Dominant Hypocalcemia With Bartter Syndrome

Hypoparathyroidism - Autosomal Dominant

Hypocalcemia
Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Fanconi Anemia, Complementation Group D2

Fanconi Anemia Complementation Group D2

FANCD2

Fad2

Fa4

Fancd

Fanconi Pancytopenia Type 4

Fanconi Anemia, Complementation Group D

Fanconi Pancytopenia, Type 4

Facd

Fanconi Anemia Complementation Group D
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

Approval
生物活性分子 (1)
目录号 产品名 作用方式
纯度 是否罕见病
HY-B0349 Meclizine dihydrochloride 99.95% 否
Pre-clinical Phase
生物活性分子 (5)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-B0349S Meclizine-d8 / 否
HY-B0349S2 Meclizine-d8 dihydrochloride 98.75% 否
HY-RS01905 Car1 Mouse Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01906 Car1 Rat Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS01933 CARS1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus CARS1 MGD MGI:1351477
Felis catus CARS1 VGNC VGNC:60374
Canis familiaris CARS1 VGNC VGNC:38726
Macaca mulatta CARS1 VGNC VGNC:70540
Rattus norvegicus CARS1 RGD RGD:1310747
Bos taurus CARS1 VGNC VGNC:26773
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