1. Gene
  2. TRMT10A - tRNA methyltransferase 10A Gene

TRMT10A - tRNA methyltransferase 10A Gene

中文名称:tRNA 甲基转移酶 10A

种属: Homo sapiens

同用名: MSSGM; TRM10; MSSGM1; RG9MTD2; HEL-S-88

基因 ID: 93587 | 基因类型: protein coding

关于 TRMT10A

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,546,711-99,564,039 (from NCBI)

This gene has 7 transcripts (splice variants), 201 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 4.1), thyroid (RPKM 2.7) and 25 other tissues.

功能概要

该基因编码一种属于 tRNA (Guanine-1) -甲基转移酶家族的蛋白质。酵母中的一个相似基因修饰了几种不同的 tRNA 种类。该基因的突变与小头畸形、身材矮小和葡萄糖代谢受损有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 10 月]

This gene encodes a protein that belongs to the tRNA (Guanine-1)-methyltransferase family. A similar gene in yeast modifies several different tRNA species. Mutations in this gene are associated with microcephaly, short stature, and impaired glucose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

TRMT10A 基因产物(6)

mRNA Protein Name
NM_001134665.3 NP_001128137.1 tRNA methyltransferase 10 homolog A isoform 1
NM_001134666.3 NP_001128138.1 tRNA methyltransferase 10 homolog A isoform 1
NM_001375880.1 NP_001362809.1 tRNA methyltransferase 10 homolog A isoform 1
NM_001375881.1 NP_001362810.1 tRNA methyltransferase 10 homolog A isoform 1
NM_001375882.1 NP_001362811.1 tRNA methyltransferase 10 homolog A isoform 2
NM_152292.5 NP_689505.1 tRNA methyltransferase 10 homolog A isoform 1

TRMT10A 蛋白结构

tRNA_m1G_MT

tRNA_m1G_MT: tRNA (Guanine-1)-methyltransferase (110 - 276)

  • 0
  • 100
  • 200
  • 300
  • 339 a.a.
蛋白主名 其他名称

tRNA methyltransferase 10 homolog A

RNA (guanine-9-)-methyltransferase domain-containing protein 2

TRMT10A 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
TRMT10A Q8TBZ6 TRIM7 Homo sapiens Q9C029 32296183
种属内
TRMT10A Q8TBZ6 TRIM7 Homo sapiens Q9C029 32296183
种属内
TRMT10A Q8TBZ6 TRIM7 Homo sapiens Q9C029 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
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1

MSSGM1

Mssgm

Microcephaly, Short Stature, And Impaired Glucose Metabolism

Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Hyperinsulinemic Hypoglycemia

Nesidioblastosis

Islet Cell Hyperplasia

Persistent Hyperinsulinemia Hypoglycemia Of Infancy

Hyperinsulinemic Hypoglycaemia

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Lipodystrophy, Congenital Generalized, Type 1

Congenital Generalized Lipodystrophy Type 1

Bscl1

CGL1

Berardinelli-Seip Congenital Lipodystrophy, Type 1

Brunzell Syndrome Agpat2-Related

Berardinelli-Seip Congenital Lipodystrophy Type 1

Lipodystrophy, Berardinelli-Seip Congenital, Type 1

Brunzell Syndrome, Agpat2-Related

Agpat2-Related Brunzell Syndrome

Congenital Generalized Lipodystrophy 1

Berardinelli-Seip Syndrome

Lipoatrophic Diabetes

Lipodystrophy Berardinelli Type

Total Lipodystrophy And Acromegaloid Gigantism

Lipodystrophy, Generalized, Congenital, Type 1

Familial Generalized Lipodystrophy

Lipoatrophic Diabetes Mellitus

Familial Partial Lipodystrophy, Type 2

Usher Syndrome, Type Iic

Usher Syndrome Type 2c

USH2C

Usher Syndrome, Type 2c

Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic

Usher Syndrome Type Iic

Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic

Usher Syndrome 2c

Usher'S Syndrome Type 2c

Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic

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

直系同源

种属 基因名 来源 基因 ID
Felis catus TRMT10A VGNC VGNC:66566
Macaca mulatta TRMT10A VGNC VGNC:107207
Bos taurus TRMT10A VGNC VGNC:36366
Mus musculus TRMT10A MGD MGI:1920421
Rattus norvegicus TRMT10A RGD RGD:1594565
Canis familiaris TRMT10A VGNC VGNC:47851