2. Gene
  3. METTL23 - methyltransferase like 23 Gene

METTL23 - methyltransferase like 23 Gene

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

中文名称：甲基转移酶 23

种属: Homo sapiens

同用名: MRT44; C17orf95

基因 ID: 124512 | 基因类型: protein coding

关于 METTL23

Cytogenetic location: 17q25.1 Genomic coordinates (GRCh38): 17:76,726,041-76,733,881 (from NCBI)

This gene has 15 transcripts (splice variants), 191 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 11.1), thyroid (RPKM 8.5) and 25 other tissues.

功能概要

由该基因编码的蛋白质在人类认知的转录途径中充当转录因子调节因子。它是 GA 结合蛋白转录因子的 α 亚基的伴侣。该基因的突变会导致轻度常染色体隐性智力障碍。可变剪接导致多个转录本变体。[RefSeq 提供，2014 年 11 月]

The protein encoded by this gene functions as a transcription factor regulator in the transcriptional pathway for human cognition. It is a partner of the alpha subunit of the GA-binding protein transcription factor. Mutations in this gene cause mild autosomal recessive intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

METTL23 基因产物(16)

mRNA Protein Name
NM_001080510.5 NP_001073979.3 histone-arginine methyltransferase METTL23 isoform 1
NM_001206983.3 NP_001193912.1 histone-arginine methyltransferase METTL23 isoform 1
NM_001206984.3 NP_001193913.1 histone-arginine methyltransferase METTL23 isoform 1
NM_001206985.3 NP_001193914.1 histone-arginine methyltransferase METTL23 isoform 2
NM_001206986.3 NP_001193915.1 histone-arginine methyltransferase METTL23 isoform 2
NM_001206987.3 NP_001193916.1 histone-arginine methyltransferase METTL23 isoform 2
NM_001302703.2 NP_001289632.1 histone-arginine methyltransferase METTL23 isoform 1
NM_001302704.2 NP_001289633.1 histone-arginine methyltransferase METTL23 isoform 2
NM_001302705.2 NP_001289634.1 histone-arginine methyltransferase METTL23 isoform 3
NM_001378348.1 NP_001365277.1 histone-arginine methyltransferase METTL23 isoform 1
NM_001378349.1 NP_001365278.1 histone-arginine methyltransferase METTL23 isoform 1
NM_001378350.1 NP_001365279.1 histone-arginine methyltransferase METTL23 isoform 3
NM_001378351.1 NP_001365280.1 histone-arginine methyltransferase METTL23 isoform 3
NM_001378352.1 NP_001365281.1 histone-arginine methyltransferase METTL23 isoform 3
NM_001378353.1 NP_001365282.1 histone-arginine methyltransferase METTL23 isoform 3
NM_001378354.1 NP_001365283.1 histone-arginine methyltransferase METTL23 isoform 2
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 DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
24501276 GOA
enables heat shock protein binding IPI
IPI: 通过物理相互作用推断
23349634 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
23349634 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cognition IMP
IMP: 通过突变表型推断
24501276 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
24501276 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
23349634 GOA
located in nucleus IDA
IDA: 通过直接分析推断
24501276 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
23349634 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

METTL23 蛋白结构

Methyltransf_16

Methyltransf_16: Lysine methyltransferase (2 - 133)

  • 0
  • 100
  • 190 a.a.
蛋白主名 其他名称

histone-arginine methyltransferase METTL23

probable methyltransferase-like protein 23

methyltransferase-like protein 23

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 44

MRT44

Mental Retardation, Autosomal Recessive 44

Autosomal Recessive Intellectual Developmental Disorder 44

Mental Retardation, Autosomal Recessive, Type 44
Autosomal Recessive Non-Syndromic Intellectual Disability

Ar-Nsid

Ns-Arid
Pontocerebellar Hypoplasia, Type 2a

Pontocerebellar Hypoplasia Type 2a

PCH2A

Pch2

Pontocerebellar Hypoplasia With Progressive Cerebral Atrophy

Volendam Neurodegenerative Disease

Pontocerebellar Hypoplasia 2a

Hypoplasia, Pontocerebellar, Type 2a
Pontocerebellar Hypoplasia, Type 2e

Pontocerebellar Hypoplasia Type 2

Pontocerebellar Hypoplasia Type 2e

Pch2

PCH2E

Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy

Pontocerebellar Hypoplasia 2e

Pcca2

Progressive Cerebello-Cerebral Atrophy Type 2

Doid:0112328

Hypoplasia, Pontocerebellar, Type 2e

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2a
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-RS08362 METTL23 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus METTL23 VGNC VGNC:97284
Felis catus METTL23 VGNC VGNC:97505
Mus musculus METTL23 MGD MGI:1921569
Rattus norvegicus METTL23 RGD RGD:1306284
Macaca mulatta METTL23 VGNC VGNC:104631
Canis familiaris METTL23 VGNC VGNC:97207
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