1. Gene
  2. THG1L - tRNA-histidine guanylyltransferase 1 like Gene

THG1L - tRNA-histidine guanylyltransferase 1 like Gene

中文名称:tRNA-组氨酸鸟苷酸转移酶 1 样

种属: Homo sapiens

同用名: IHG1; THG1; ICF45; IHG-1; hTHG1; SCAR28

基因 ID: 54974 | 基因类型: protein coding

关于 THG1L

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,731,420-157,741,449 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 4.1), colon (RPKM 3.8) and 25 other tissues.

功能概要

该基因编码的蛋白质是一种线粒体蛋白质,由高水平葡萄糖诱导,与糖尿病肾病有关。编码的蛋白质似乎增加了线粒体的生物发生,这可能导致肾纤维化。这种蛋白质的另一个功能是鸟苷转移酶,将 GMP 添加到 tRNA (His) 的 5' 端。已发现该基因编码不同亚型的几种转录变体。[RefSeq 提供,2015 年 12 月]

The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

THG1L 基因产物(4)

mRNA Protein Name
NM_001317824.2 NP_001304753.1 probable tRNA(His) guanylyltransferase isoform 2
NM_001317825.2 NP_001304754.1 probable tRNA(His) guanylyltransferase isoform 3
NM_001317826.2 NP_001304755.1 probable tRNA(His) guanylyltransferase isoform 4
NM_017872.5 NP_060342.2 probable tRNA(His) guanylyltransferase isoform 1
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 ATP binding IDA
IDA: 通过直接分析推断
21059936 GOA
enables GTP binding IDA
IDA: 通过直接分析推断
21059936 GOA
enables guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
25008184 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21059936 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
21059936 GOA
enables nucleotidyltransferase activity EXP
EXP: 通过实验结果推断
21059936 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21044950 GOA
enables tRNA guanylyltransferase activity IDA
IDA: 通过直接分析推断
21059936 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial fusion IDA
IDA: 通过直接分析推断
25008184 GOA
involved in protein homotetramerization IPI
IPI: 通过物理相互作用推断
21059936 GOA
involved in response to oxidative stress IDA
IDA: 通过直接分析推断
25008184 GOA
involved in stress-induced mitochondrial fusion IDA
IDA: 通过直接分析推断
25008184 GOA
involved in tRNA processing IDA
IDA: 通过直接分析推断
21059936 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transferase complex IDA
IDA: 通过直接分析推断
21059936 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

THG1L 蛋白结构

Thg1

Thg1: tRNAHis guanylyltransferase (35 - 164)

Thg1C

Thg1C: Thg1 C terminal domain (165 - 294)

  • 0
  • 100
  • 200
  • 298 a.a.
蛋白主名 其他名称

probable tRNA(His) guanylyltransferase

induced by high glucose-1

THG1L 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
THG1L Q9NWX6 TERF1 Homo sapiens P54274 21044950
种属内
THG1L Q9NWX6 TERF1 Homo sapiens P54274 21044950
种属内
THG1L Q9NWX6 SDCBP Homo sapiens O00560 25416956
种属内
THG1L Q9NWX6 SPS1 Saccharomyces cerevisiae P08458 27107014
种属内
THG1L Q9NWX6 THG1L Homo sapiens Q9NWX6 21059936
种属内
THG1L Q9NWX6 THG1L Homo sapiens Q9NWX6
Y2H
21516116
种属内
THG1L Q9NWX6 THG1L Homo sapiens Q9NWX6
GMS
21059936
种属内
THG1L Q9NWX6 SPS1 Saccharomyces cerevisiae P08458 27107014
种属内
THG1L Q9NWX6 THG1L Homo sapiens Q9NWX6 25416956
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
Spinocerebellar Ataxia, Autosomal Recessive 28

SCAR28

Spinocerebellar Ataxia, Autosomal Recessive, 28

Renal Fibrosis
Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16

Charcot-Marie-Tooth Disease Type 2a2b

Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency

Ar-Cmt2, Ouvrier Type

Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type

Seoan Due To Mfn2 Deficiency

Charcot-Marie-Tooth Disease, Axonal, Type 2a2b

Cmt2a2b

Charcot-Marie-Tooth Disease, Type 2a2b

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6

HSAN6

Hsan Vi

Hereditary Sensory And Autonomic Neuropathy Type Vi

Familial Dysautonomia With Contractures

Neuropathy, Hereditary Sensory And Autonomic, 6

Hereditary Sensory Neuropathy Type Vi

Hsn Vi

Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

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 THG1L MGD MGI:1913878
Rattus norvegicus THG1L RGD RGD:1359513
Canis familiaris THG1L VGNC VGNC:47345
Bos taurus THG1L VGNC VGNC:35837
Felis catus THG1L VGNC VGNC:66163
Macaca mulatta THG1L VGNC VGNC:110428