2. Gene
  3. FARSB - phenylalanyl-tRNA synthetase subunit beta Gene

FARSB - phenylalanyl-tRNA synthetase subunit beta Gene

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

中文名称：苯丙氨酰-tRNA 合成酶β亚基

种属: Homo sapiens

同用名: FRSB; PheHB; PheRS; FARSLB; RILDBC; HSPC173; NEDBLLA; RILDBC1

基因 ID: 10056 | 基因类型: protein coding

关于 FARSB

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:222,566,899-222,656,092 (from NCBI)

This gene has 2 transcripts (splice variants), 212 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 8.3), testis (RPKM 8.2) and 25 other tissues.

功能概要

该基因编码一种高度保守的酶，属于氨酰-tRNA 合成酶 IIc 类亚家族。该酶包含与两个催化性 α 亚基形成四聚体的调节性 β 亚基。在 ATP 存在的情况下，该四聚体负责将 L-苯丙氨酸连接到适当 tRNA 的末端腺苷。已鉴定出位于 10 号染色体上的假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 1 月]

This gene encodes a highly conserved Enzyme that belongs to the Aminoacyl-tRNA Synthetase class IIc subfamily. This Enzyme comprises the regulatory beta subunits that form a tetramer with two catalytic alpha subunits. In the presence of ATP, this tetramer is responsible for attaching L-phenylalanine to the terminal adenosine of the appropriate tRNA. A pseudogene located on chromosome 10 has been identified. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

FARSB 基因产物(1)

mRNA Protein Name
NM_005687.5 NP_005678.3 phenylalanine--tRNA ligase beta subunit
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
enables phenylalanine-tRNA ligase activity IDA
IDA: 通过直接分析推断
20223217 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20223217 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phenylalanyl-tRNA aminoacylation IDA
IDA: 通过直接分析推断
20223217 GOA
involved in protein heterotetramerization IDA
IDA: 通过直接分析推断
20223217 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of phenylalanine-tRNA ligase complex IDA
IDA: 通过直接分析推断
20223217 GOA
part of phenylalanine-tRNA ligase complex IPI
IPI: 通过物理相互作用推断
20223217 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

FARSB 蛋白结构

B3_4

B3_4: B3/4 domain (118 - 279)

B5

B5: tRNA synthetase B5 domain (308 - 374)

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

phenylalanine--tRNA ligase beta subunit

phenylalanine tRNA ligase 1, beta, cytoplasmic

FARSB 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
Intra FARSB Q9NSD9 FARSA Homo sapiens Q9Y285
Anti Tag CoIP
33961781
Intra FARSB Q9NSD9 FARSA Homo sapiens Q9Y285
Validated Y2H
32296183
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
Rajab Interstitial Lung Disease With Brain Calcifications 1

Rajab Interstitial Lung Disease With Brain Calcifications

Rajab Syndrome

RILDBC1

Rildbc

Developmental Delay, Small Stature, Microcephaly, And Brain Calcifications, Formerly

Neurodevelopmental Disorder With Brain, Liver, And Lung Abnormalities, Formerly

Nedblla, Formerly

Developmental Delay, Small Stature, Microcephaly, And Brain Calcifications

Nedblla

Neurodevelopmental Disorder With Brain, Liver, And Lung Abnormalities
Liver Cirrhosis

Cirrhosis

Cirrhosis Of Liver

CIRRH

Cryptogenic Cirrhosis

Cirrhosis, Cryptogenic

Cirrhosis Nos
Brain Calcification, Rajab Type
Interstitial Lung And Liver Disease

Severe Early-Onset Pulmonary Alveolar Proteinosis Due To Mars Deficiency

ILLD

Pulmonary Alveolar Proteinosis, Reunion Island

Infantile Liver Failure Syndrome 2

Infantile Liver Failure Syndrome 2, Formerly

Ilfs2, Formerly

Hereditary Pulmonary Alveolar Proteinosis With Hepatic Involvement

Pap, Reunion Island Type

Pulmonary Alveolar Proteinosis, Reunion Island Type

Ilfs2

Lung And Liver Disease, Interstitial
Interstitial Lung Disease

Ild

Lung Diseases, Interstitial

Lung Diseases Interstitial

Interstitial Lung Diseases
Lung Disease

Lung Diseases

Disorder Of Lung

Abnormality Of The Lung
Niemann-Pick Disease, Type C2

NPC2

Niemann-Pick Disease Type C2

Niemann-Pick C2 Disease

Niemann-Pick Disease C2
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-RS04750 FARSB Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus FARSB RGD RGD:1303210
Macaca mulatta FARSB VGNC VGNC:72522
Mus musculus FARSB MGD MGI:1346035
Felis catus FARSB VGNC VGNC:80210
Bos taurus FARSB VGNC VGNC:28868
Canis familiaris FARSB VGNC VGNC:97196
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