1. Gene
  2. TRIT1 - tRNA isopentenyltransferase 1 Gene

TRIT1 - tRNA isopentenyltransferase 1 Gene

中文名称:tRNA 异戊烯基转移酶 1

种属: Homo sapiens

同用名: IPT; GRO1; IPPT; MOD5; hGRO1; IPTase; COXPD35

基因 ID: 54802 | 基因类型: protein coding

关于 TRIT1

Cytogenetic location: 1p34.2 Genomic coordinates (GRCh38): 1:39,838,110-39,883,511 (from NCBI)

This gene has 16 transcripts (splice variants), 216 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 7.3), prostate (RPKM 6.7) and 25 other tissues.

功能概要

该基因编码一种靶向线粒体的蛋白质,并通过在第 37 位的腺嘌呤上添加二甲基烯丙基来修饰转移 RNA (tRNA) 。这种修饰对于在蛋白质翻译过程中保持正确的阅读框架很重要。该基因被认为是一种肿瘤抑制因子,其表达可以降低细胞生长。可变剪接导致多个转录本变体,其中大部分可能没有功能。[RefSeq 提供,2015 年 8 月]

This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]

TRIT1 基因产物(3)

mRNA Protein Name
NM_001312691.1 NP_001299620.1 tRNA dimethylallyltransferase isoform 2
NM_001312692.1 NP_001299621.1 tRNA dimethylallyltransferase isoform 3
NM_017646.6 NP_060116.2 tRNA dimethylallyltransferase isoform 1 precursor
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
32814053 GOA
enables tRNA dimethylallyltransferase activity EXP
EXP: 通过实验结果推断
24901367 GOA
enables tRNA dimethylallyltransferase activity IDA
IDA: 通过直接分析推断
24126054 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial tRNA modification IDA
IDA: 通过直接分析推断
24901367 GOA
involved in tRNA modification IDA
IDA: 通过直接分析推断
24126054 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in mitochondrion IDA
IDA: 通过直接分析推断
24901367 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

TRIT1 蛋白结构

IPPT

IPPT: IPP transferase (57 - 331)

zf-C2H2_jaz

zf-C2H2_jaz: Zinc-finger double-stranded RNA-binding (397 - 419)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 467 a.a.
蛋白主名 其他名称

tRNA dimethylallyltransferase

IPP transferase

关联疾病

疾病名称 别名
Combined Oxidative Phosphorylation Deficiency 35

COXPD35

Combined Oxidative Phosphorylation Deficiency
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD

Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome

Sifd Syndrome

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Early Myoclonic Encephalopathy

Myoclonic Epilepsy

Myoclonic Seizure

Epilepsies, Myoclonic

Epileptic Seizures - Myoclonic

Epileptic Seizures, Myoclonic

Myoclonia Epileptica

Myoclonic Seizure Disorder

Early Myoclonic Encephalopathy With Suppression-Bursts

Frontometaphyseal Dysplasia

Fmd

Dysplasia, Frontometaphyseal

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Rattus norvegicus TRIT1 RGD RGD:1304781
Canis familiaris TRIT1 VGNC VGNC:47848
Macaca mulatta TRIT1 VGNC VGNC:79239
Mus musculus TRIT1 MGD MGI:1914216
Felis catus TRIT1 VGNC VGNC:66563
Bos taurus TRIT1 VGNC VGNC:36363