2. Gene
  3. ALKBH8 - alkB homolog 8, tRNA methyltransferase Gene

ALKBH8 - alkB homolog 8, tRNA methyltransferase Gene

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

中文名称：alkB 同系物 8，tRNA 甲基转移酶

种属: Homo sapiens

同用名: ABH8; TRM9; MRT71; TRMT9; TRMT9A

基因 ID: 91801 | 基因类型: protein coding

关于 ALKBH8

Cytogenetic location: 11q22.3 Genomic coordinates (GRCh38): 11:107,502,727-107,565,735 (from NCBI)

This gene has 7 transcripts (splice variants), 196 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 3.3), lymph node (RPKM 3.0) and 25 other tissues.

功能概要

启用 tRNA (尿嘧啶) 甲基转移酶活性； tRNA 结合活性；和锌离子结合活性。参与细胞对 DNA 损伤刺激的反应； tRNA 甲基化；和 tRNA 摆动尿苷修饰。位于细胞质和核体中。与常染色体隐性非综合征性智力障碍有关。 [由基因组资源联盟提供，2022 年 4 月]

Enables tRNA (uracil) methyltransferase activity; tRNA binding activity; and zinc ion binding activity. Involved in cellular response to DNA damage stimulus; tRNA methylation; and tRNA wobble uridine modification. Located in cytosol and nuclear body. Implicated in autosomal recessive non-syndromic intellectual disability. [provided by Alliance of Genome Resources, Apr 2022]

ALKBH8 基因产物(3)

mRNA Protein Name
NM_001301010.3 NP_001287939.2 alkylated DNA repair protein alkB homolog 8 isoform 1
NM_001378133.1 NP_001365062.1 alkylated DNA repair protein alkB homolog 8 isoform 3
NM_138775.3 NP_620130.2 alkylated DNA repair protein alkB homolog 8 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
enables protein binding IPI
IPI: 通过物理相互作用推断
20123966 GOA
enables tRNA (uridine) methyltransferase activity IDA
IDA: 通过直接分析推断
20308323 GOA
enables tRNA binding IDA
IDA: 通过直接分析推断
22065580 GOA
enables zinc ion binding IDA
IDA: 通过直接分析推断
22065580 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
20308323 GOA
involved in tRNA methylation IDA
IDA: 通过直接分析推断
20308323 GOA
involved in tRNA methylation IMP
IMP: 通过突变表型推断
31079898 GOA
involved in tRNA wobble uridine modification IDA
IDA: 通过直接分析推断
21285950 GOA
involved in tRNA wobble uridine modification IMP
IMP: 通过突变表型推断
31079898 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
34948388 GOA
located in cytosol IDA
IDA: 通过直接分析推断
20308323 GOA
located in nucleus IDA
IDA: 通过直接分析推断
20308323 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

ALKBH8 蛋白结构

DUF1891

DUF1891: Domain of unknown function (DUF1891) (1 - 37)

2OG-FeII_Oxy_2

2OG-FeII_Oxy_2: 2OG-Fe(II) oxygenase superfamily (151 - 334)

Methyltransf_11

Methyltransf_11: Methyltransferase domain (412 - 501)

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

alkylated DNA repair protein alkB homolog 8

AlkB homologue 8

ALKBH8 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
ALKBH8 Q96BT7 TRMT112 Homo sapiens Q9UI30
Anti Tag CoIP
20308323
种属内
ALKBH8 Q96BT7 TRMT112 Homo sapiens Q9UI30
Confocal
34948388
种属内
ALKBH8 Q96BT7 TRMT112 Homo sapiens Q9UI30
Anti Tag CoIP
34948388
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 71

MRT71

Mental Retardation, Autosomal Recessive 71

Autosomal Recessive Intellectual Developmental Disorder 71
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Syndromic Intellectual Disability
Cardiomyopathy, Familial Restrictive, 1

RCM1

Restrictive Cardiomyopathy 1

Rcm

Familial Restrictive Cardiomyopathy 1

Cardiomyopathy, Familial Restrictive 1

Cardiomyopathy, Restrictive, Familial, Type 1

Rcm-1
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 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-153100A (S)-mchm5U 98.87% 否
HY-RS00609 ALKBH8 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ALKBH8 VGNC VGNC:37808
Bos taurus ALKBH8 VGNC VGNC:25839
Mus musculus ALKBH8 MGD MGI:1914917
Macaca mulatta ALKBH8 VGNC VGNC:99541
Rattus norvegicus ALKBH8 RGD RGD:1304687
Felis catus ALKBH8 VGNC VGNC:81899
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