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  2. SELENOW - selenoprotein W Gene

SELENOW - selenoprotein W Gene

中文名称:硒蛋白 W

种属: Homo sapiens

同用名: selW; SEPW1

基因 ID: 6415 | 基因类型: protein coding

关于 SELENOW

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:47,778,703-47,784,682 (from NCBI)

This gene has 14 transcripts (splice variants), 101 orthologues and 2 paralogues. Ubiquitous expression in heart (RPKM 246.5), brain (RPKM 150.5) and 23 other tissues.

功能概要

该基因编码含有硒代半胱氨酸 (Sec) 残基的硒蛋白,该残基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,它是将 UGA 识别为 Sec 密码子而不是终止信号所必需的。这种蛋白质在骨骼肌、心脏和大脑中高度表达。它属于 SelWTH 家族,具有硫氧还蛋白样折叠和保守的 CxxU (C 是半胱氨酸,U 是 Sec) 基序,表明该基因具有氧化还原功能。对小鼠的研究表明,这种硒蛋白参与肌肉生长和分化,以及在神经元发育过程中保护神经元免受氧化应激。已在 1 号染色体上鉴定出该基因座的逆转录假基因。[RefSeq 提供,2017 年 8 月]

This gene encodes a selenoprotein containing a selenocysteine (Sec) residue, which 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 highly expressed in skeletal muscle, heart and brain. It belongs to the SelWTH family, which possesses a thioredoxin-like fold and a conserved CxxU (C is cysteine, U is Sec) motif, suggesting a redox function for this gene. Studies in mouse show that this selenoprotein is involved in muscle growth and differentiation, and in the protection of neurons from oxidative stress during neuronal development. A retroprocessed pseudogene of this locus has been identified on chromosome 1. [provided by RefSeq, Aug 2017]

SELENOW 基因产物(1)

mRNA Protein Name
NM_003009.4 NP_003000.1 selenoprotein W

SELENOW 蛋白结构

Rdx

Rdx: Rdx family (5 - 70)

  • 0
  • 87 a.a.
蛋白主名 其他名称

selenoprotein W

selenoprotein W, 1

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

Pontocerebellar Hypoplasia, Type 2d

Pontocerebellar Hypoplasia Type 2d

Pcca

PCH2D

Progressive Cerebello-Cerebral Atrophy

Cerebellocerebral Atrophy, Progressive

Pontocerebellar Hypoplasia 2d

Progressive Cerebellocerebral Atrophy

Hypoplasia, Pontocerebellar, Type 2d

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
Felis catus SELENOW VGNC VGNC:109514
Rattus norvegicus SELENOW RGD RGD:3661
Canis familiaris SELENOW VGNC VGNC:45984
Bos taurus SELENOW VGNC VGNC:34423
Mus musculus SELENOW MGD MGI:1100878