2. Gene
  3. METTL1 - methyltransferase 1, tRNA methylguanosine Gene

METTL1 - methyltransferase 1, tRNA methylguanosine Gene

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

中文名称：甲基转移酶 1，tRNA 甲基鸟苷

种属: Homo sapiens

同用名: TRM8; TRMT8; C12orf1; YDL201w

基因 ID: 4234 | 基因类型: protein coding

关于 METTL1

Cytogenetic location: 12q14.1 Genomic coordinates (GRCh38): 12:57,768,471-57,772,105 (from NCBI)

This gene has 8 transcripts (splice variants) and 190 orthologues. Ubiquitous expression in kidney (RPKM 7.6), thyroid (RPKM 7.3) and 25 other tissues.

功能概要

该基因在序列上与酿酒酵母 YDL201w 基因相似。该基因产物包含一个保守的 S-腺苷甲硫氨酸结合基序，并被磷酸化失活。已经为该基因描述了编码不同蛋白质同种型的可变剪接变体。已在 X 染色体上鉴定出一个假基因。[RefSeq 提供，2008 年 7 月]

This gene is similar in sequence to the S. cerevisiae YDL201w gene. The gene product contains a conserved S-adenosylmethionine-binding motif and is inactivated by phosphorylation. Alternative splice variants encoding different protein isoforms have been described for this gene. A pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2008]

METTL1 基因产物(2)

mRNA Protein Name
NM_005371.6 NP_005362.3 tRNA (guanine-N(7)-)-methyltransferase isoform a
NM_023033.4 NP_075422.3 tRNA (guanine-N(7)-)-methyltransferase isoform c
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 internal mRNA (guanine-N7-)-methyltransferase activity IDA
IDA: 通过直接分析推断
31031084 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15861136 GOA
enables tRNA (guanine(46)-N7)-methyltransferase activity IDA
IDA: 通过直接分析推断
12403464 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in RNA (guanine-N7)-methylation IDA
IDA: 通过直接分析推断
37379838 GOA
involved in cellular response to stress IDA
IDA: 通过直接分析推断
37379838 GOA
involved in tRNA (guanine-N7)-methylation IDA
IDA: 通过直接分析推断
36599982 GOA
involved in tRNA modification IDA
IDA: 通过直接分析推断
12403464 GOA
involved in tRNA stabilization IDA
IDA: 通过直接分析推断
36599982 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
15861136 GOA
part of tRNA (m7G46) methyltransferase complex IDA
IDA: 通过直接分析推断
36599982 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

METTL1 蛋白结构

Methyltransf_4

Methyltransf_4: Putative methyltransferase (55 - 258)

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

tRNA (guanine-N(7)-)-methyltransferase

D1075-like gene product

重组 METTL1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75926 METTL1 Protein, Human (His) Q9UBP6-1/NP_005362.3 (D32-Q265) ≥95%

关联疾病

疾病名称 别名
Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Primordial Dwarfism

Isolated Growth Hormone Deficiency Type Ia

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism
Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome
Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-162080 METTL1-WDR4-IN-1 Inhibitor 98.87% 否
HY-162082 METTL1-WDR4-IN-2 Inhibitor 99.71% 否
HY-RS08353 METTL1 Human Pre-designed siRNA Set A / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus METTL1 MGD MGI:1339986
Bos taurus METTL1 VGNC VGNC:31400
Rattus norvegicus METTL1 RGD RGD:1593036
Macaca mulatta METTL1 VGNC VGNC:100078
Canis familiaris METTL1 VGNC VGNC:43169
Others METTL1 NCBI
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