1. Gene
  2. SELENOT - selenoprotein T Gene

SELENOT - selenoprotein T Gene

中文名称:硒蛋白 T

种属: Homo sapiens

同用名: SELT

基因 ID: 51714 | 基因类型: protein coding

关于 SELENOT

Cytogenetic location: 3q25.1 Genomic coordinates (GRCh38): 3:150,603,321-150,630,436 (from NCBI)

This gene has 6 transcripts (splice variants) and 224 orthologues. Ubiquitous expression in brain (RPKM 31.9), adrenal (RPKM 30.5) and 25 other tissues.

功能概要

该基因编码一种硒蛋白,在活性位点含有硒代半胱氨酸 (Sec) 残基。 Sec 由通常发出翻译终止信号的 UGA 密码子编码。硒蛋白 mRNA 的 3' UTR 包含一个保守的茎环结构,即 Sec 插入序列 (SECIS) 元件,这是将 UGA 识别为 Sec 密码子而不是终止信号所必需的。该蛋白质位于内质网中。它属于 SelWTH 家族,具有类似硫氧还蛋白的折叠和在几种氧化还原活性蛋白中发现的保守 CxxU (C 是半胱氨酸,U 是 Sec) 基序。对小鼠的研究表明,该基因在保护多巴胺能神经元免受帕金森病的氧化应激以及控制胰腺 β 细胞的葡萄糖稳态方面起着至关重要的作用。已在 9 号和 5 号染色体上鉴定出该基因座的假基因。[RefSeq 提供,2017 年 9 月]

This gene encodes a selenoprotein, containing a selenocysteine (Sec) residue at the active site. Sec is encoded by the UGA codon that normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is localized in the endoplasmic reticulum. It belongs to the SelWTH family that possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif found in several redox active proteins. Studies in mice indicate a crucial role for this gene in the protection of dopaminergic neurons against oxidative stress in Parkinson's disease, and in the control of glucose homeostasis in pancreatic beta-cells. Pseudogenes of this locus have been identified on chromosomes 9 and 5. [provided by RefSeq, Sep 2017]

SELENOT 基因产物(1)

mRNA Protein Name
NM_016275.5 NP_057359.2 thioredoxin reductase-like selenoprotein T precursor

SELENOT 蛋白结构

Rdx

Rdx: Rdx family (41 - 179)

  • 0
  • 100
  • 195 a.a.
蛋白主名 其他名称

thioredoxin reductase-like selenoprotein T

thioredoxin reductase-like enzyme

关联疾病

疾病名称 别名
Keshan Disease

Caused By Deficiency Of Selenium In The Diet

Enlarged Heart And Poor Heart Function

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome

RSMD1

Rss

Mdrs1

Eichsfeld Type Congenital Muscular Dystrophy

Desmin-Related Myopathy With Mallory Bodies

Classic Multiminicore Myopathy

Sepn1-Related Myopathy

Multicore Myopathy, Severe Classic Form

Minicore Myopathy, Severe Classic Form

Multiminicore Disease, Severe Classic Form

Muscular Dystrophy, Rigid Spine, 1

Classic Mmd

Classic Multiminicore Disease

Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity

Desmin-Related Myopathy With Mallory Body-Like Inclusions

Early-Onset Desmin-Related Myopathy

Myopathy, Sepn1-Related

Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity

Muscular Dystrophy, Congenital, Eichsfeld Type

Severe Classic Form Minicore Myopathy

Severe Classic Form Multicore Myopathy

Severe Classic Form Multiminicore Disease

Desmin-Related Myopathies With Mallory Bodies

Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity

Rigid Spine Muscular Dystrophy-1

Rigid Spine Congenital Muscular Dystrophy

Congenital Muscular Dystrophy Eichsfeld Type

Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity

Minicore Myopathy Severe Classic Form

Multicore Myopathy Severe Classic Form

Multiminicore Disease Severe Classic Form

Dystrophy, Muscular, Rigid Spine, Type 1

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
Bos taurus SELENOT VGNC VGNC:53604
Macaca mulatta SELENOT VGNC VGNC:84084
Canis familiaris SELENOT VGNC VGNC:52902
Mus musculus SELENOT MGD MGI:1916477
Rattus norvegicus SELENOT RGD RGD:1359128