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  3. SELENOI - selenoprotein I Gene

SELENOI - selenoprotein I Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：硒蛋白 I

种属: Homo sapiens

同用名: EPT1; SELI; SEPI; SPG81

基因 ID: 85465 | 基因类型: protein coding

关于 SELENOI

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,346,143-26,395,885 (from NCBI)

This gene has 4 transcripts (splice variants), 211 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 12.3), small intestine (RPKM 10.6) and 25 other tissues.

功能概要

由该基因编码的多次跨膜蛋白属于 CDP-酒精磷脂酰转移酶 I 类家族。它催化磷酸乙醇胺从 CDP-乙醇胺转移到甘油二酯，产生磷脂酰乙醇胺，参与囊泡膜的形成和维持、脂质代谢的调节和蛋白质折叠。这种蛋白质是一种硒蛋白，在其活性位点含有稀有的硒代半胱氨酸 (Sec) 氨基酸。 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) 元素，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 7 月]

The multi-pass transmembrane protein encoded by this gene belongs to the CDP-alcohol phosphatidyltransferase class-I family. It catalyzes the transfer of phosphoethanolamine from CDP-ethanolamine to diacylglycerol to produce phosphatidylethanolamine, which is involved in the formation and maintenance of vesicular membranes, regulation of lipid metabolism, and protein folding. This protein is a selenoprotein, containing the rare selenocysteine (Sec) amino acid 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, Jul 2016]

SELENOI 基因产物(1)

mRNA Protein Name
NM_033505.4 NP_277040.1 ethanolaminephosphotransferase 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ethanolaminephosphotransferase activity IDA
IDA: 通过直接分析推断
17132865 GOA
enables ethanolaminephosphotransferase activity IMP
IMP: 通过突变表型推断
28052917 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphatidylethanolamine biosynthetic process IDA
IDA: 通过直接分析推断
17132865 GOA
involved in phosphatidylethanolamine biosynthetic process IMP
IMP: 通过突变表型推断
28052917 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
28052917 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

SELENOI 蛋白结构

CDP-OH_P_transf

CDP-OH_P_transf: CDP-alcohol phosphatidyltransferase (46 - 156)

  • 0
  • 100
  • 200
  • 300
  • 397 a.a.
蛋白主名 其他名称

ethanolaminephosphotransferase 1

ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)

重组 SELENOI 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70905 EPT1 Protein, Human (GST) Q9C0D9 (M1-P50) ≥95%

关联疾病

疾病名称 别名
Spastic Paraplegia 81, Autosomal Recessive

SPG81

Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction

Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction

Hereditary Spastic Paraplegia 81

Spastic Paraplegia 81 Autosomal Recessive

Doid:0112349
Childhood Hepatocellular Carcinoma

Pediatric Hepatocellular Carcinoma

Childhood Carcinoma Of Liver Cell

Childhood Hepatoma

Childhood Liver Cell Carcinoma

Pediatric Carcinoma Of Liver Cell

Pediatric Hepatoma

Pediatric Liver Cell Carcinoma

Childhood-Onset Hcc

Childhood-Onset Hepatocellular Carcinoma

Pediatric Hcc

Childhood Liver Cancer
Spastic Paraplegia 83, Autosomal Recessive

SPG83

Hereditary Spastic Paraplegia 83

Spastic Paraplegia 83 Autosomal Recessive

Doid:0112346

Paraplegia, Spastic, Type 83, Autosomal Recessive
Spastic Paraplegia 82, Autosomal Recessive

SPG82

Hereditary Spastic Paraplegia 82

Spastic Paraplegia 82 Autosomal Recessive

Doid:0112343
Adult Hepatocellular Carcinoma

Adult Primary Hepatocellular Carcinoma

Adult Hepatoma

Adult Hcc
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12636 SELENOI Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21253 Selenoi Mouse Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris SELENOI VGNC VGNC:45982
Bos taurus SELENOI VGNC VGNC:97309
Mus musculus SELENOI MGD MGI:107898
Rattus norvegicus SELENOI RGD RGD:1560938
Macaca mulatta SELENOI VGNC VGNC:77335
Felis catus SELENOI VGNC VGNC:81218
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