1. Gene
  2. METTL8 - methyltransferase 8, methylcytidine Gene

METTL8 - methyltransferase 8, methylcytidine Gene

中文名称:甲基转移酶 8,甲基胞苷

种属: Homo sapiens

同用名: TIP

基因 ID: 79828 | 基因类型: protein coding

关于 METTL8

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:171,315,746-171,434,772 (from NCBI)

This gene has 17 transcripts (splice variants), 183 orthologues and 3 paralogues. Ubiquitous expression in skin (RPKM 2.5), esophagus (RPKM 2.0) and 24 other tissues.

功能概要

启用 mRNA 甲基转移酶活性。参与 mRNA 甲基化。预测位于细胞质和细胞核中。 [由基因组资源联盟提供,2022 年 4 月]

Enables mRNA methyltransferase activity. Involved in mRNA methylation. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

METTL8 基因产物(10)

mRNA Protein Name
NM_001321154.2 NP_001308083.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1
NM_001321155.2 NP_001308084.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1
NM_001321156.2 NP_001308085.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 1
NM_001321157.2 NP_001308086.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 2 precursor
NM_001321158.2 NP_001308087.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 3
NM_001321159.2 NP_001308088.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 4
NM_001321160.2 NP_001308089.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 5
NM_001321161.2 NP_001308090.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 6
NM_001321162.2 NP_001308091.1 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial isoform 7
NM_024770.5 NP_079046.2 tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial 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
NOT enables mRNA methyltransferase activity IDA
IDA: 通过直接分析推断
34774131 GOA
enables mRNA methyltransferase activity IMP
IMP: 通过突变表型推断
28655767 GOA
enables tRNA (cytidine-3-)-methyltransferase activity IDA
IDA: 通过直接分析推断
34774131 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA metabolic process IMP
IMP: 通过突变表型推断
28655767 GOA
involved in mitochondrial tRNA modification IDA
IDA: 通过直接分析推断
34774131 GOA
involved in positive regulation of mitochondrial translation IDA
IDA: 通过直接分析推断
34774131 GOA
involved in tRNA C3-cytosine methylation IDA
IDA: 通过直接分析推断
34774131 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
NOT is active in cytoplasm IDA
IDA: 通过直接分析推断
34774131 GOA
is active in mitochondrial matrix IDA
IDA: 通过直接分析推断
35017528 GOA
is active in mitochondrion IDA
IDA: 通过直接分析推断
34774131 GOA
NOT is active in nucleus IDA
IDA: 通过直接分析推断
34774131 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

METTL8 蛋白结构

Methyltransf_25

Methyltransf_25: Methyltransferase domain (200 - 282)

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

tRNA N(3)-methylcytidine methyltransferase METTL8, mitochondrial

mRNA N(3)-methylcytidine methyltransferase METTL8

关联疾病

疾病名称 别名
Woodhouse-Sakati Syndrome

Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome

Woodhouse Sakati Syndrome

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome

WDSKS

Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia

Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome

Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia

Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome

Neuroectodermal Endocrine Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities

Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome

Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities

Wss

Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc

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
Macaca mulatta METTL8 VGNC VGNC:104543
Mus musculus METTL8 MGD MGI:2385142
Canis familiaris METTL8 VGNC VGNC:43182
Felis catus METTL8 VGNC VGNC:63468
Bos taurus METTL8 VGNC VGNC:31417
Rattus norvegicus METTL8 RGD RGD:1561059