1. Gene
  2. SEPHS2 - selenophosphate synthetase 2 Gene

SEPHS2 - selenophosphate synthetase 2 Gene

中文名称:硒磷酸合成酶 2

种属: Homo sapiens

同用名: SPS2

基因 ID: 22928 | 基因类型: protein coding

关于 SEPHS2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,443,631-30,445,874 (from NCBI)

This gene has 1 transcript (splice variant), 181 orthologues and 1 paralogue.

功能概要

该基因编码的酶可催化硒化物和 ATP 产生单硒磷酸 (MSP) 。 MSP 是合成硒代半胱氨酸 (Sec) 所需的硒供体,硒代半胱氨酸 (Sec) 在通常发出翻译终止信号的框内 UGA 密码子处共翻译并入硒蛋白。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。这种蛋白质本身是一种硒蛋白,在其活性位点含有一个 Sec 残基,表明存在一种自动调节机制。它优先在涉及硒蛋白合成的组织和血细胞发育部位表达。已在 5 号染色体上鉴定出该基因座的假基因。[RefSeq 提供,2017 年 5 月]

This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017]

SEPHS2 基因产物(1)

mRNA Protein Name
NM_012248.4 NP_036380.2 selenide, water dikinase 2
基因本体论
  • 分子功能
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
33961781 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

SEPHS2 蛋白结构

AIRS

AIRS: AIR synthase related protein, N-terminal domain (119 - 215)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (244 - 417)

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

selenide, water dikinase 2

selenium donor protein 2

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

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 SEPHS2 VGNC VGNC:82350
Rattus norvegicus SEPHS2 RGD RGD:1308827
Mus musculus SEPHS2 MGD MGI:108388
Macaca mulatta SEPHS2 VGNC VGNC:77277
Bos taurus SEPHS2 VGNC VGNC:54480