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  2. SELENOH - selenoprotein H Gene

SELENOH - selenoprotein H Gene

中文名称:硒蛋白 H

种属: Homo sapiens

同用名: SELH; C11orf31; C17orf10

基因 ID: 280636 | 基因类型: protein coding

关于 SELENOH

Cytogenetic location: 11q12.1 Genomic coordinates (GRCh38): 11:57,741,491-57,743,550 (from NCBI)

This gene has 6 transcripts (splice variants) and 49 orthologues. Ubiquitous expression in adrenal (RPKM 17.7), spleen (RPKM 16.5) and 25 other tissues.

功能概要

该基因编码属于 SelWTH 家族的核仁蛋白。它作为一种氧化还原酶发挥作用,并已被证明可以通过抑制凋亡细胞死亡途径保护神经元免受 UVB 诱导的损伤,促进线粒体生物发生和线粒体功能,并通过基因组维持和氧化还原调节抑制细胞衰老。这种蛋白质是一种硒蛋白,在其活性位点含有稀有氨基酸硒代半胱氨酸 (Sec) 。 Sec 由 UGA 密码子编码,通常表示翻译终止。硒蛋白 mRNA 的 3' UTR 包含一个保守的茎环结构,称为 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。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2016 年 5 月]

This gene encodes a nucleolar protein, which belongs to the SelWTH family. It functions as an oxidoreductase, and has been shown to protect neurons against UVB-induced damage by inhibiting apoptotic cell death pathways, promote mitochondrial biogenesis and mitochondrial function, and suppress cellular senescence through genome maintenance and redox regulation. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2016]

SELENOH 基因产物(2)

mRNA Protein Name
NM_001321335.2 NP_001308264.1 selenoprotein H
NM_170746.4 NP_734467.1 selenoprotein H

SELENOH 蛋白结构

Rdx

Rdx: Rdx family (35 - 119)

  • 0
  • 100
  • 122 a.a.
蛋白主名 其他名称

selenoprotein H

关联疾病

疾病名称 别名
Spina Bifida Occulta
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Anencephaly

Aprosencephaly

Anencephalus

Congenital Absence Of Brain

Absence Of A Large Part Of The Brain And The Skull

Anencephalia

Anencephalic Monster

Brain Absence

Brain Agenesis

Brain Aplasia

Absent Brain

Anencephalic

Congenital Absence Of Cerebrum

Congenital Hemicrania

Incomplete Anencephaly

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
Macaca mulatta SELENOH VGNC VGNC:82234
Felis catus SELENOH VGNC VGNC:81942
Mus musculus SELENOH MGD MGI:1919907
Rattus norvegicus SELENOH RGD RGD:1563348