2. Gene
  3. TRMT1 - tRNA methyltransferase 1 Gene

TRMT1 - tRNA methyltransferase 1 Gene

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

中文名称：tRNA 甲基转移酶 1

种属: Homo sapiens

同用名: TRM1; MRT68

基因 ID: 55621 | 基因类型: protein coding

关于 TRMT1

Cytogenetic location: 19p13.13 Genomic coordinates (GRCh38): 19:13,104,907-13,116,740 (from NCBI)

This gene has 23 transcripts (splice variants), 194 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 12.4), lymph node (RPKM 11.5) and 25 other tissues.

功能概要

该基因编码一种 tRNA 修饰酶，该酶充当二甲基转移酶，修饰 tRNA 26 位的单个鸟嘌呤残基。编码的酶在外源表达时具有单甲基酶和二甲基酶活性，并使用 S-腺苷甲硫氨酸作为甲基供体。编码蛋白的 C 端区域具有锌指基序和富含精氨酸/脯氨酸的区域。该基因的突变与常染色体隐性智力障碍 (ARID) 有关。可变剪接导致编码不同异构体的多个转录变体。 X 染色体上有该基因的假基因。[RefSeq 提供，2017 年 5 月]

This gene encodes a tRNA-modifying enzyme that acts as a dimethyltransferase, modifying a single guanine residue at position 26 of the tRNA. The encoded enzyme has both mono- and dimethylase activity when exogenously expressed, and uses S-adenosyl methionine as a methyl donor. The C-terminal region of the encoded protein has both a zinc finger motif, and an arginine/proline-rich region. Mutations in this gene have been implicated in autosomal recessive intellectual disorder (ARID). Alternative splicing results in multiple transcript variants encoding different isoforms. There is a pseudogene of this gene on the X chromosome. [provided by RefSeq, May 2017]

TRMT1 基因产物(6)

mRNA Protein Name
NM_001136035.4 NP_001129507.1 tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1
NM_001142554.3 NP_001136026.1 tRNA (guanine(26)-N(2))-dimethyltransferase isoform 2
NM_001351760.2 NP_001338689.1 tRNA (guanine(26)-N(2))-dimethyltransferase isoform 2
NM_001351761.2 NP_001338690.1 tRNA (guanine(26)-N(2))-dimethyltransferase isoform 3
NM_001351762.2 NP_001338691.1 tRNA (guanine(26)-N(2))-dimethyltransferase isoform 4
NM_017722.5 NP_060192.1 tRNA (guanine(26)-N(2))-dimethyltransferase isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables tRNA (guanine(26)-N2)-dimethyltransferase activity EXP
EXP: 通过实验结果推断
10982862 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

TRMT1 蛋白结构

TRM

TRM: N2,N2-dimethylguanosine tRNA methyltransferase (58 - 500)

zf-CCCH

zf-CCCH: Zinc finger C-x8-C-x5-C-x3-H type (and similar) (602 - 626)

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

tRNA (guanine(26)-N(2))-dimethyltransferase

N(2),N(2)-dimethylguanosine tRNA methyltransferase

TRMT1 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
TRMT1 Q9NXH9 MAGEA11 Homo sapiens P43364-2
Y2H Array
25416956
种属内
TRMT1 Q9NXH9 MAGEA11 Homo sapiens P43364-2
Y2H Prey Pooling
25416956
种属内
TRMT1 Q9NXH9 TERF1 Homo sapiens P54274
Pull Down
21044950
种属内
TRMT1 Q9NXH9 MAGEA11 Homo sapiens P43364
Y2H Array
32296183
种属内
TRMT1 Q9NXH9 MAGEA11 Homo sapiens P43364
Y2H Prey Pooling
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
Intellectual Developmental Disorder, Autosomal Recessive 68

MRT68

Mental Retardation, Autosomal Recessive 68

Autosomal Recessive Intellectual Developmental Disorder 68
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Developmental And Epileptic Encephalopathy 24

DEE24

Epileptic Encephalopathy, Early Infantile, 24

Eiee24

Developmental And Epileptic Encephalopathy, 24

Early Infantile Epileptic Encephalopathy 24

Encephalopathy, Epileptic, Early Infantile, Type 24
Urethral Calculus

Calculus In Urethra

Urethral Stone

Urethrolithiasis

Urethra Calculi Impaction

Urethra Calculus Impaction

Urethra Stone

Calculous Urethritis

Urethral Calculi Impaction

Urethral Calculus Impaction
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy
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 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15086 TRMT1 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS15097 TRMU Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS19490 Trmt1 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS25984 Trmt1 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris TRMT1 VGNC VGNC:47850
Felis catus TRMT1 VGNC VGNC:66565
Bos taurus TRMT1 VGNC VGNC:36365
Mus musculus TRMT1 MGD MGI:1289155
Rattus norvegicus TRMT1 RGD RGD:1305992
Macaca mulatta TRMT1 VGNC VGNC:79562
Others TRMT1 NCBI
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