2. Gene
  3. METTL5 - methyltransferase 5, N6-adenosine Gene

METTL5 - methyltransferase 5, N6-adenosine Gene

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

中文名称：甲基转移酶 5，N6-腺苷

种属: Homo sapiens

同用名: MRT72; HSPC133

基因 ID: 29081 | 基因类型: protein coding

关于 METTL5

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:169,811,757-169,824,905 (from NCBI)

This gene has 12 transcripts (splice variants), 209 orthologues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 27.8), thyroid (RPKM 17.4) and 25 other tissues.

功能概要

启用 S-腺苷-L-甲硫氨酸结合活性和 rRNA (腺嘌呤-N6-) -甲基转移酶活性。参与翻译和 rRNA 甲基化的正调控。位于细胞核；突触后;和突触前。涉及常染色体隐性智力发育障碍 72。 [由基因组资源联盟提供，2022 年 4 月]

Enables S-adenosyl-L-methionine binding activity and rRNA (adenine-N6-)-methyltransferase activity. Involved in positive regulation of translation and rRNA methylation. Located in nucleus; postsynapse; and presynapse. Implicated in autosomal recessive intellectual developmental disorder-72. [provided by Alliance of Genome Resources, Apr 2022]

METTL5 基因产物(3)

mRNA Protein Name
NM_001293186.2 NP_001280115.1 rRNA N6-adenosine-methyltransferase METTL5
NM_001293187.2 NP_001280116.1 rRNA N6-adenosine-methyltransferase METTL5
NM_014168.4 NP_054887.2 rRNA N6-adenosine-methyltransferase METTL5
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 S-adenosyl-L-methionine binding IDA
IDA: 通过直接分析推断
31328227 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
31328227 GOA
enables rRNA (adenine-N6-)-methyltransferase activity IDA
IDA: 通过直接分析推断
31328227 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of translation IMP
IMP: 通过突变表型推断
33357433 GOA
involved in rRNA methylation IDA
IDA: 通过直接分析推断
31328227 GOA
involved in rRNA processing IDA
IDA: 通过直接分析推断
33428944 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
31564433 GOA
located in postsynapse IDA
IDA: 通过直接分析推断
31564433 GOA
located in presynapse IDA
IDA: 通过直接分析推断
31564433 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

METTL5 蛋白结构

MTS

MTS: Methyltransferase small domain (46 - 145)

  • 0
  • 100
  • 209 a.a.
蛋白主名 其他名称

rRNA N6-adenosine-methyltransferase METTL5

methyltransferase like 5

METTL5 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
METTL5 Q9NRN9 TRMT112 Homo sapiens Q9UI30
Confocal
34948388
种属内
METTL5 Q9NRN9 TRMT112 Homo sapiens Q9UI30
Y2H Prey Pooling
32296183
种属内
METTL5 Q9NRN9 TRMT112 Homo sapiens Q9UI30
Anti Tag CoIP
34948388
种属内
METTL5 Q9NRN9 TRMT112 Homo sapiens Q9UI30
Validated Y2H
32296183
种属内
METTL5 Q9NRN9 TRMT112 Homo sapiens Q9UI30
Y2H Array
32296183
种属内
METTL5 Q9NRN9 ZBTB5 Homo sapiens O15062
Y2H Array
32296183
种属内
METTL5 Q9NRN9 ZBTB5 Homo sapiens O15062
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 72

MRT72

Mental Retardation, Autosomal Recessive 72

Autosomal Recessive Intellectual Developmental Disorder 72

Autosomal Recessive Intellectual Developmental Disorder-72

Autosomal Recessive Mental Retardation 72
Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly
Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor
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-RS08366 METTL5 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus METTL5 MGD MGI:1922672
Macaca mulatta METTL5 VGNC VGNC:99381
Felis catus METTL5 VGNC VGNC:80280
Rattus norvegicus METTL5 RGD RGD:1566062
Canis familiaris METTL5 VGNC VGNC:43179
Bos taurus METTL5 VGNC VGNC:31414
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