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  2. TRDMT1 - tRNA aspartic acid methyltransferase 1 Gene

TRDMT1 - tRNA aspartic acid methyltransferase 1 Gene

中文名称:tRNA 天冬氨酸甲基转移酶 1

种属: Homo sapiens

同用名: DMNT2; DNMT2; PUMET; RNMT1; MHSAIIP

基因 ID: 1787 | 基因类型: protein coding

关于 TRDMT1

Cytogenetic location: 10p13 Genomic coordinates (GRCh38): 10:17,137,336-17,201,672 (from NCBI)

This gene has 12 transcripts (splice variants), 201 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 1.0), endometrium (RPKM 0.6) and 25 other tissues.

功能概要

该基因编码负责天冬氨酸转移 RNA 甲基化的蛋白质,特别是在反密码子环中的胞嘧啶 38 残基处。该酶还具有残留的 DNA- (胞嘧啶-C5) 甲基转移酶活性。虽然在序列和结构上与 DNA 胞嘧啶甲基转移酶相似,但该基因在分类单元中的功能是独特且高度保守的。[RefSeq 提供,2010 年 6 月]

This gene encodes a protein responsible for the methylation of aspartic acid transfer RNA, specifically at the cytosine-38 residue in the anticodon loop. This Enzyme also possesses residual DNA-(cytosine-C5) methyltransferase activity. While similar in sequence and structure to DNA cytosine methyltransferases, this gene is distinct and highly conserved in its function among taxa. [provided by RefSeq, Jun 2010]

TRDMT1 基因产物(8)

mRNA Protein Name
NM_001321006.2 NP_001307935.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform f
NM_001321007.2 NP_001307936.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform g
NM_001351219.2 NP_001338148.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform h
NM_001351220.2 NP_001338149.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform i
NM_001351221.2 NP_001338150.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform j
NM_001351222.2 NP_001338151.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform k
NM_001351223.2 NP_001338152.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform k
NM_004412.7 NP_004403.1 tRNA (cytosine(38)-C(5))-methyltransferase isoform a
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 tRNA (cytidine-5-)-methyltransferase activity EXP
EXP: 通过实验结果推断
16424344 GOA
enables tRNA (cytidine-5-)-methyltransferase activity IDA
IDA: 通过直接分析推断
16424344 GOA
enables tRNA methyltransferase activity IDA
IDA: 通过直接分析推断
16424344 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within tRNA methylation IDA
IDA: 通过直接分析推断
16424344 GOA
involved in tRNA modification IDA
IDA: 通过直接分析推断
16424344 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
16424344 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

TRDMT1 蛋白结构

DNA_methylase

DNA_methylase: C-5 cytosine-specific DNA methylase (5 - 388)

  • 0
  • 100
  • 200
  • 300
  • 391 a.a.
蛋白主名 其他名称

tRNA (cytosine(38)-C(5))-methyltransferase

DNA (cytosine-5)-methyltransferase-like protein 2

重组 TRDMT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75711 DNMT2 Protein, Human (sf9, GST) O14717 (M1-E391) ≥95%

关联疾病

疾病名称 别名
Dubowitz Syndrome

Dubowitz'S Syndrome

Dwarfism-Eczema-Peculiar Facies Syndrome

Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type

CHH

Mckusick Type Metaphyseal Chondrodysplasia

Metaphyseal Dysplasia Without Hypotrichosis

Cartilage Hair Hypoplasia Like Syndrome

Metaphyseal Chondrodysplasia Mckusick Type

Chhv

Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only

Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency

Cartilage-Hair Syndrome

Mckusick'S Metaphyseal Chondrodysplasia Syndrome

Metaphyseal Chondrodysplasia, Recessive Type

Autosomal Recessive Metaphyseal Chondrodysplasia

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf

Chromophobe Renal Cell Carcinoma

Chromophobe Adenocarcinoma

Chromophobe Carcinoma Of Kidney

Kidney Chromophobe

Renal Cell Carcinoma, Chromophobe Cell

Crcc

Chrcc

Chromophobe Renal Cell Adenocarcinoma

Chromophobe Renal Carcinoma

Chromophobe Carcinoma

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
Bos taurus TRDMT1 VGNC VGNC:36296
Rattus norvegicus TRDMT1 RGD RGD:1306292
Mus musculus TRDMT1 MGD MGI:1274787
Canis familiaris TRDMT1 VGNC VGNC:47790
Macaca mulatta TRDMT1 VGNC VGNC:106112
Others TRDMT1 NCBI