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  2. SELENOF - selenoprotein F Gene

SELENOF - selenoprotein F Gene

中文名称:硒蛋白 F

种属: Homo sapiens

同用名: SEP15

基因 ID: 9403 | 基因类型: protein coding

关于 SELENOF

Cytogenetic location: 1p22.3 Genomic coordinates (GRCh38): 1:86,862,445-86,914,577 (from NCBI)

This gene has 7 transcripts (splice variants), 136 orthologues and 1 paralogue. Ubiquitous expression in thyroid (RPKM 119.6), urinary bladder (RPKM 69.9) and 25 other tissues.

功能概要

该基因编码的蛋白质属于 SEP15/硒蛋白 M 家族。这种蛋白质的确切功能尚不清楚;然而,已发现它与 UDP-葡萄糖:糖蛋白葡糖基转移酶 (UGTR) 相关,UGTR 是一种内质网 (ER) 常驻蛋白,参与蛋白质折叠的质量控制。与 UGTR 的结合将这种蛋白质保留在 ER 中,它可能在蛋白质折叠中发挥作用。它也被认为在癌症病因学中起作用。这种蛋白质是一种硒蛋白,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 11 月]

The protein encoded by this gene belongs to the SEP15/selenoprotein M family. The exact function of this protein is not known; however, it has been found to associate with UDP-glucose:glycoprotein glucosyltransferase (UGTR), an endoplasmic reticulum(ER)-resident protein, which is involved in the quality control of protein folding. The association with UGTR retains this protein in the ER, where it may play a role in protein folding. It has also been suggested to have a role in Cancer etiology. This protein is a selenoprotein, containing the rare amino acid selenocysteine (Sec). 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, Nov 2016]

SELENOF 基因产物(2)

mRNA Protein Name
NM_004261.5 NP_004252.2 selenoprotein F isoform 1 precursor
NM_203341.3 NP_976086.1 selenoprotein F isoform 2 precursor
基因本体论
  • 分子功能
  • 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
29410696 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in endoplasmic reticulum lumen IDA
IDA: 通过直接分析推断
11278576 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

SELENOF 蛋白结构

Sep15_SelM

Sep15_SelM: Sep15/SelM redox domain (85 - 160)

  • 0
  • 100
  • 162 a.a.
蛋白主名 其他名称

selenoprotein F

15 kDa selenoprotein

SELENOF 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SELENOF O60613 RDH11 Homo sapiens Q8TC12
Y2H
29410696
种属内
SELENOF O60613 RDH11 Homo sapiens Q8TC12 29410696
种属内
SELENOF O60613 RDH11 Homo sapiens Q8TC12 29410696
种属内
SELENOF O60613 RDH11 Homo sapiens Q8TC12 29410696
种属间: 跨种属相互作用 种属内: 同种属相互作用

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
Felis catus SELENOF VGNC VGNC:80354
Bos taurus SELENOF VGNC VGNC:109402
Mus musculus SELENOF MGD MGI:1927947
Rattus norvegicus SELENOF RGD RGD:621291